HEME/ONC Flashcards
(462 cards)
1
Q
What is the pathophysiology of WBCs?
A
The pathophysiology of WBCs involves various mechanisms affecting their function and production.
1
Q
How are RBCs produced via the kidneys?
A
RBCs are produced in response to erythropoietin, which is stimulated by the kidneys.
2
Q
What are the two types of Macrocytic anemias?
A
- Megaloblastic: Vitamin B12 and folate deficiencies
- Non-megaloblastic: Liver disease, alcohol, myelodysplastic disorders, aplastic anemia, chemo
3
Q
What is the process of erythropoiesis?
A
Erythropoiesis is the process of producing red blood cells from stem cells in the bone marrow.
4
Q
What are the different types of Normocytic Anemias?
A
- Hemolytic:
- Intrinsic issues: cytoskeleton, enzymes, hemoglobin
- Extrinsic issues: autoimmune, microangiopathic, physical
- Non-Hemolytic:
- Hemorrhage/blood loss
- Anemia of chronic kidney disease (reduced erythropoietin)
- Early stages of micro-/macrocytic disorder
5
Q
What are the steps of hemostasis?
A
- Blood vessel wall contraction
- Formation of a platelet plug at the site of damage
- Requires attachment, activation, and aggregation of platelets
- Von Willebrand factor
- Formation of fibrin protein that helps to bind and compact the platelet plug
- Fibrinolysis: ensures that clot does not grow too large
Impairment of any of these steps can cause either excessive bleeding or excessive clotting.
6
Q
What is the coagulation cascade?
A
The coagulation cascade is a series of events that lead to the formation of a blood clot.
7
Q
What is the extrinsic pathway?
A
The extrinsic pathway is short and involves only one factor, factor VII.
8
Q
What is the intrinsic pathway?
A
The intrinsic pathway is long and involves multiple factors; use TENEX (twelve, eleven, nine, eight) to remember it leads to Factor X.
9
Q
What are the coagulation factors?
A
Coagulation factors are inactivated forms found in plasma, with ‘A’ at the end indicating the activated form. Originally numbered I-XII.
10
Q
Where are III, IV, VI?
A
III: Tissue factor, IV: Calcium.
11
Q
What does the coagulation cascade look like in vivo?
A
- Activation of factor X to Xa (extrinsic ten-ase complex)
- Conversion of factor IX to IXa, activating factor X to Xa (intrinsic ten-ase complex)
- Thrombin activates factor XI to XIa, leading to further generation of factor IXa during severe hemostatic challenges.
Coagulation factors are shown as roman numerals, with only the activated forms (suffix ‘a’) shown for simplicity.
12
Q
What is the process of Hemostasis?
A
- Platelet plug formation:
- Collagen fibers exposed at area of damage
- Von Willebrand factor binds to collagen and platelets
- Platelets undergo activation, change shape, and release chemicals
- Fibrin formation:
- Coagulation factors activated in cascade, forming fibrin polymers that cover the platelet plug
- Over time, damage is fixed and clot is dissolved.
13
Q
What are the natural anticoagulants involved in the process of hemostasis and fibrinolysis?
A
Natural anticoagulants include:
1. Antithrombin: inactivates thrombin and factor Xa
2. Protein C: inactivates factors V and VII
3. Protein S: cofactor for Protein C.
14
Q
What are the clot busters involved in the process of hemostasis and fibrinolysis?
A
Clot busters include plasminogen converted to plasmin by plasminogen activators (tPA), which specifically targets fibrin.
15
Q
What does fibrinolysis look like?
A
Fibrinolysis involves plasmin breaking fibrin into d-dimers and fibrin degradation products (FDP).
16
Q
How is the liver essential to hemostasis?
A
The liver makes thrombopoietin, all clotting factors, anticoagulants, and fibrinolytics except von Willebrand factor.
17
Q
What are disorders of hemostasis and thrombosis?
A
Disorders can be acquired or congenital, based on platelet deficiency/dysfunction, decrease/absence or genetic mutation of coagulation factors, or medications.
18
Q
What are myeloproliferative disorders?
A
Myeloproliferative diseases are characterized by cellular proliferation of one or more hematologic cell lines in the peripheral blood.
19
Q
What does it mean to have Leukemia?
A
Diseases arising from bone marrow. Malignant condition involving excess production of immature or abnormal leukocytes. These abnormal WBC accumulate in the bone marrow and blood.
Leukemias are categorized as: Acute or chronic based on the percentage of blasts or leukemia cells in bone marrow or blood; Myeloid or lymphoid based on the predominant lineage of the malignant cells.
20
Q
What is palliative care?
A
Specialized medical care of people living with a serious illness. This type of care is focused on providing relief from the symptoms and stress of the illness. The goal is to improve quality of life for both the patient and the family. Can be provided at any stage of a serious illness.
21
Q
What are the barriers to palliative care?
A
Confusion about terminology (palliative vs hospice), prognostic uncertainty, psychology of decision making, training of healthcare providers, stigma of ‘drug seeking’.
22
Q
What are the pain management strategies for cancer pain?
A
Acute vs chronic, somatic vs visceral, neuropathic pain, is challenging (a ‘moving target’).
23
Q
What are the pain management for pharmacologic management?
A
NSAIDS/COX2 inhibitors, opiates, meds for neuropathic pain.
24
What are the pain management for integrative therapies?
Hot or cold packs, massage, and physical therapy can be helpful for musculoskeletal pain. Similarly, integrative medicine therapies of acupuncture, chiropractic care, biofeedback, meditation, music therapy, guided imagery, psychotherapy, support groups, religious services, depression, and anxiety.
25
What are the pain management for dyspnea?
Oxygen therapy/BiPAP, opioids/benzos to improve perception of dyspnea, steroids, relaxation techniques.
26
What is a common side effect of opiate medication?
Constipation, prevention is key.
27
What is the primary function of red blood cells?
To transport oxygen to cells and tissues.
28
What is anemia?
A significant deficit in the mass/function of circulating RBCs.
29
How is anemia measured?
By hemoglobin and hematocrit.
30
What are the three main causes of anemia?
1. Decreased production 2. Increased rate of destruction 3. Loss from the vessels.
31
What can lead to decreased production of RBCs?
Lack of erythropoietin, missing building blocks of hemoglobin, bone marrow suppression, or failure.
32
What conditions can cause increased destruction of RBCs?
Autoimmune disorders, structural changes, enzyme deficiencies, or mechanical issues.
33
What are some causes of blood loss leading to anemia?
Hemorrhage, frequent blood draws, or donations.
34
What are the normal RBC count ranges for women and men?
Women: 4.2-5.4, Men: 4.7-6.1.
35
What is the normal range for hemoglobin in adults?
28-32 pg for mean cell hemoglobin (MCH).
36
What does MCV indicate?
Average size of RBCs; Microcytic (<80), Normocytic (80-100), Macrocytic (>100).
37
What are symptoms of mild to moderate anemia?
Often asymptomatic; may experience breathlessness and/or fatigue during strenuous exercise.
38
What are symptoms of severe anemia?
Dyspnea, fatigue, pallor.
39
What is Iron Deficiency Anemia (IDA)?
Decreased iron availability in bone marrow leads to decreased production of hemoglobin.
40
What is the most common type of anemia in the world?
Iron Deficiency Anemia (IDA).
41
What are risk factors for IDA?
Females, pregnant women, infants, children, adolescents, elderly, vegetarians, frequent blood donors.
42
What symptoms are associated with IDA?
Pica, pallor, atrophic glossitis, cheilosis, cold intolerance.
43
What lab findings indicate IDA?
Low hemoglobin, low serum ferritin, low serum iron, elevated TIBC.
44
What is the treatment for IDA?
Treat underlying cause and provide oral iron (Ferrous Sulfate) or parenteral iron if necessary.
45
What enhances iron absorption?
Vitamin C; drinking orange juice with iron pills.
46
What inhibits iron absorption?
Calcium.
47
What is Anemia of Chronic Disease?
Anemia associated with many chronic systemic diseases, often mild or moderate.
48
What are the causes of Anemia of Chronic Disease?
Causes include inflammation (IBS, RA, malignancy), organ failure (kidney, hepatic, endocrine), and elderly individuals.
49
What percentage of individuals over 85 have idiopathic anemia?
20% of individuals over 85 have idiopathic anemia.
50
What is the role of hepcidin in Anemia of Chronic Disease?
Hepcidin from the liver increases with inflammation and promotes iron storage.
51
What are the symptoms to inquire about for Anemia of Chronic Disease?
Ask about history of colon cancer and colonoscopy.
52
What are the lab findings for diagnosing Anemia of Chronic Disease?
Low hemoglobin, low serum iron, normal or high serum ferritin, low TIBC, microcytic.
53
What is the treatment for Anemia of Chronic Disease?
Address the underlying cause.
54
What characterizes Alpha Thalassemias?
Hereditary disorder with reduced synthesis of ALPHA globin chains, an autosomal recessive disorder.
55
Where is Alpha Thalassemia more prevalent?
More common in tropical and subtropical climates, but also prevalent in North America, Europe, and Australia.
56
How many alpha globin genes are involved in normal production?
Normal production relies on 4 alpha globin genes, 2 on each copy of chromosome 16.
57
What are the symptoms of silent carriers of Alpha Thalassemia?
Silent carriers have one abnormal gene copy, usually asymptomatic, may show mild microcytosis and hypochromia.
58
What are the symptoms of Alpha Thalassemia trait?
Requires 2 abnormal copies of the gene, may have mild to moderate microcytosis and hypochromia.
59
What characterizes Hemoglobin H disease?
Requires 3 abnormal genes; symptoms include microcytic, hypochromic anemia, mild jaundice, and hepatosplenomegaly.
60
What is Hydrops fetalis in Alpha Thalassemia?
Occurs with 4 abnormal genes, has an 80% chance of survival, typically results in death in utero.
61
What history should be inquired for Alpha Thalassemia?
PMHx including IDA, prior transfusion, recent leg ulcers, growth retardation, splenomegaly, family history, and social history.
62
What are the blood test findings for Alpha Thalassemia?
CBC shows decreased Hg, MCV, MCH, elevated RBC count; peripheral blood smear shows target cells and poikilocytosis.
63
What is the treatment for carriers of Alpha Thalassemia?
No treatment needed, but at higher risk for iron, folate, and B12 deficiencies; provide supplements PRN.
64
What is the treatment for Hemoglobin H disease?
Folic acid, may require transfusions or splenectomy, check labs every 6 months, avoid oxidative drugs.
65
What complications may arise from Hemoglobin H disease?
Complications may include cholithiasis, infection, leg ulcers, folic acid deficiency.
66
What is the treatment for Hydrops Fetalis?
No established treatment; complications for the mother include preeclampsia, antepartum hemorrhage, and sepsis.
67
What is Beta Thalassemia?
A hereditary disorder characterized by reduction in the synthesis of BETA globin chains.
68
What type of genetic disorder is Beta Thalassemia?
It is an autosomal recessive disorder with abnormal RBC production.
69
What causes impaired beta-globin synthesis in Beta Thalassemia?
Mutations on several genes on chromosome 11.
70
What is the difference between Beta + and Beta 0 in Beta Thalassemia?
Beta + indicates decreased production of beta protein; Beta 0 indicates no production of beta protein.
71
What are the symptoms of Thalassemia minor?
Asymptomatic, but may have some mild anemia.
72
What are the symptoms of Thalassemia intermedia?
Variable symptom onset and severity; symptoms may begin in children 2-6 years old, including diminished growth and development or may be asymptomatic into adulthood.
73
What are the symptoms of Thalassemia major?
Growth retardation, jaundice, skin pallor, poor musculature, genu valgum, craniofacial changes, and symptoms emerge at 6-24 months including failure to thrive, feeding problems, diarrhea, irritability, and hepatosplenomegaly.
74
What does a CBC show for Thalassemia major?
Reduced hemoglobin level to < 7, elevated RBC count in minor, low MCV (often < 70), and lower RDW.
75
What does hemoglobin electrophoresis show in Thalassemia major?
HbF is 92-95% of total hemoglobin and HbA is absent.
76
What is the treatment for Thalassemia major?
Regular lifelong blood transfusions, possible splenectomy, and bone marrow or cord blood transplant.
77
What is Sideroblastic Anemia?
A condition characterized by inadequate marrow utilization of iron for heme synthesis, which can be acquired or congenital.
78
What are common causes of acquired Sideroblastic Anemia?
Myelodysplastic Syndrome, drugs (e.g., chloramphenicol), toxins (e.g., ethanol), and deficiencies of Vitamin B6 or copper.
79
What is the hallmark of congenital Sideroblastic Anemia?
It is X-linked and more common in men due to mutations in heme synthesis enzymes.
80
What does a peripheral blood smear show in Sideroblastic Anemia?
A dimorphic population of RBCs: one normal and one hypochromic.
81
What is Vitamin B12 deficiency?
The only anemia to have psychiatric and neurological issues, characterized by macrocytic and megaloblastic anemia.
82
What are common causes of Vitamin B12 deficiency?
Inadequate dietary intake, absence of gastric acid, pernicious anemia, dysfunction of the terminal ileum, and certain medications.
83
What are the symptoms associated with Vitamin B12 deficiency?
Fatigue, dyspnea, palpitations, pallor, neurological symptoms, and neuropsychiatric symptoms.
84
What does a blood test show for Vitamin B12 deficiency?
Low hemoglobin, elevated MCV, decreased Vitamin B12, elevated serum/urine methylmalonic acid, and elevated homocysteine.
85
What is the treatment for Vitamin B12 deficiency?
Vitamin B12 supplementation either oral or IM.
86
What is Folic Acid Deficiency associated with?
Macrocytic and Megaloblastic Anemia. It is very important for DNA and RNA synthesis.
87
What is the difference between folate and folic acid?
Folate is the naturally occurring vitamin in foods, while folic acid is synthetic.
88
What is a common cause of Folic Acid Deficiency?
Usually a result of inadequate dietary intake, especially in alcoholics.
89
How long can the body store folate?
We can only store folate for 6 months.
90
What is Tropical sprue?
A rare, acquired disease, most likely infectious, that causes mouth and digestive tract ulcerations.
91
What are some risk factors for Folic Acid Deficiency?
Poor diet, severe alcoholism, and certain GI diseases like celiac disease.
92
What are common symptoms of Folic Acid Deficiency?
Weakness, fatigue, irritability, shortness of breath, headache, and palpitations.
93
What are some signs of Folic Acid Deficiency?
Pallor, edema, jaundice, and pigmentary changes in the skin.
94
What should be assessed in the history and physical exam for Folic Acid Deficiency?
Symptoms of anemia and neurological symptoms, diet, history of malabsorptive diseases, and alcohol use.
95
What is the diagnostic test for Folic Acid Deficiency?
Serum folate to establish the diagnosis.
96
What is the treatment for Folic Acid Deficiency?
Daily folic acid supplement.
97
What dietary advice is given for Folic Acid Deficiency?
Eat folate-rich foods like grains, greens, meat, and fruit.
98
How long does recovery from Folic Acid Deficiency typically take?
Generally have full recovery in about 8 weeks.
99
What should women who are planning to become pregnant do regarding folic acid?
They should take a folic acid supplement daily that contains 0.4 to 0.8 mg.
100
When does the neural tube develop during pregnancy?
During week 6 of pregnancy, and women usually don’t know they are pregnant yet.
101
What is Hemolytic Anemia?
Anemias caused by reduced lifespan of RBCs due to destruction.
102
What are the two types of Hemolysis?
Intravascular Hemolysis (in blood vessel) and Extravascular Hemolysis (in spleen/liver).
103
What are the intrinsic and extrinsic causes of Hemolytic Anemia?
Intrinsic causes are within RBCs, while extrinsic causes are outside of RBCs.
104
What is the reticulocyte count in hemolytic anemias?
The reticulocyte count will be elevated in hemolytic anemias.
105
What is G6PD Deficiency?
The most common genetic hemolytic anemia caused by an X-linked genetic defect leading to decreased activity of the G6PD enzyme.
106
What does G6PD do?
G6PD is an enzyme that protects RBCs from oxidative injury, which would otherwise cause hemolysis.
107
Why is G6PD deficiency prevalent in certain regions?
Due to protection from malaria, G6PD deficiency is particularly prevalent in regions where malaria is or once was highly endemic, including tropical Africa.
108
How many people are affected by G6PD deficiency worldwide?
It is the most common enzyme deficiency, affecting 400 million people worldwide.
109
What mutations cause G6PD deficiency?
G6PD deficiency results from mutations in the G6PD gene, with more than 160 different gene mutations or mutation combinations identified.
110
What are the symptoms of G6PD deficiency?
Patients are typically asymptomatic at steady state; severe deficiency may remain asymptomatic until exposed to triggers like infections or certain foods.
111
What are the signs of acute hemolytic anemia?
Signs include renal failure, jaundice, and dark urine (looks like coke).
112
What medications can trigger hemolytic anemia?
Recent history of medications such as dapsone, nitrofurantoin, phenazopyridine, and sulf-containing drugs should be asked about.
113
What should be monitored in patients with G6PD deficiency?
Monitor signs and symptoms of acute hemolytic anemia, including color of urine.
114
What does the peripheral blood smear show in G6PD deficiency?
It will show 'Heinz Bodies' and 'bite cells'.
115
What is the gold standard for assessing G6PD status?
G6PD enzyme activity assay, a direct measurement of G6PD activity normalized by RBC count or hemoglobin concentration.
116
What is the general management for acute hemolytic anemia?
Avoid oxidants, eliminate or control potential triggers, monitor signs and symptoms, administer folic acid, and consider blood transfusion if hemoglobin < 7.
117
What is Sickle Cell Anemia?
An autosomal recessive disorder in which abnormal hemoglobin leads to chronic hemolytic anemia with numerous clinical consequences.
118
What is seen on a peripheral blood smear in Sickle Cell Anemia?
Irreversible sickle cells.
119
What is the major hemoglobin seen on electrophoresis in Sickle Cell Anemia?
Hemoglobin S.
120
What is a common family history finding in Sickle Cell Anemia?
Positive family history and lifelong personal history of hemolytic anemia.
121
What are recurrent pain episodes in Sickle Cell Anemia associated with?
Vaso-occlusive crisis.
122
What should be asked about in the past medical history (PMH) for Sickle Cell Anemia?
Vaccination history, past history of acute or chronic complications, and history of transfusions.
123
What are common presenting symptoms based on acute issues in Sickle Cell Anemia?
Acute chest syndrome, vaso-occlusive crisis, splenic sequestration, stroke, priapism, infection.
124
What characterizes a vaso-occlusive crisis?
Presents with sudden onset pain, commonly in extremities, chest, and back.
125
What are common descriptors of pain during a vaso-occlusive crisis?
Continuous, throbbing, sharp, pounding, dull, stabbing, cutting, and gnawing.
126
What triggers vaso-occlusive crises?
Stress, exposure to cold, and infection.
127
What is the treatment for vaso-occlusive crisis?
Pain control and fluids if dehydrated.
128
What is acute chest syndrome (ACS) in Sickle Cell Anemia?
Vaso-occlusive crisis in the lungs and a major cause of death (25%).
129
What are symptoms of acute chest syndrome?
Shortness of breath, cough, fever, chest, rib, and sternal pain.
130
What is splenic sequestration crisis?
Usually occurs in children, characterized by LUQ fullness, pain, abdominal pain, nausea/vomiting, lethargy, and irritability.
131
What are symptoms of stroke in Sickle Cell Anemia?
Sudden onset of hemiparesis, aphasia, facial droop, and occasionally seizures or coma.
132
What is priapism?
Sustained, unwanted painful erection lasting ≥ 4 hours.
133
What are general physical exam findings in Sickle Cell Anemia?
Tachypnea and fever.
134
What are abdominal findings in Sickle Cell Anemia?
Splenomegaly during splenic sequestration and hepatomegaly in two-thirds of patients.
135
What is the typical hematocrit level in Sickle Cell Anemia?
Usually 20-30%.
136
What is seen on a peripheral blood smear in Sickle Cell Anemia?
Irreversibly sickled cells comprise 5-50% of RBCs, reticulocytes (10-25%), Howell-Jolly bodies, and target cells.
137
What is the typical WBC count in Sickle Cell Anemia?
Elevated to 12,000-15,000.
138
What is the screening test for sickle hemoglobin?
Positive result indicates the presence of sickle hemoglobin.
139
How is the diagnosis of Sickle Cell Anemia confirmed?
Hemoglobin electrophoresis.
140
What is the chronic treatment for Sickle Cell Anemia?
Hydroxyurea, taken every day to increase HbF production.
141
What are the indications for transfusion in Sickle Cell Anemia?
Severe symptomatic chronic anemia and history of severe/recurrent acute chest syndrome.
142
What is the treatment for acute complications in Sickle Cell Anemia?
Administer oxygen if O2 saturation < 95%, provide IV hydration, analgesics, and transfusion if needed.
143
What is important in patient education for Sickle Cell Anemia?
Vaccination schedule and prophylactic penicillin until age 5.
144
What are other chronic issues associated with Sickle Cell Anemia?
Avascular necrosis, leg ulcers, pulmonary hypertension, proteinuria/renal complications, ophthalmologic complications, and iron overload.
145
When does the spleen typically stop working in Sickle Cell Anemia?
By age 5.
146
What is Hereditary Spherocytosis?
A defect in the RBC membrane that causes RBC to be round instead of biconcave.
147
What is a common complication of Hereditary Spherocytosis?
Chronic hemolytic anemia.
148
How is Hereditary Spherocytosis diagnosed?
Usually diagnosed based on family history/genetic testing; milder cases may be diagnosed in adulthood.
149
What are common physical findings in Hereditary Spherocytosis?
Jaundice, medial malleolar skin ulcers, palpable spleen, gallstones.
150
What are the diagnostic findings for Hereditary Spherocytosis?
Hyperchromic red blood, reticulocytes present, peripheral blood smear shows small percentage of spherocytes, indirect bilirubin often increased, Coombs test is negative.
151
What is the treatment for Hereditary Spherocytosis?
No cure; treatment aimed at reducing complications, including folic acid and splenectomy.
152
What is Autoimmune Hemolytic Anemia?
Premature destruction of RBC by autoantibodies that target RBC antigen (Rh factor).
153
What are the two types of Autoimmune Hemolytic Anemia?
Warm and cold autoimmune hemolytic anemia.
154
What are common symptoms of Autoimmune Hemolytic Anemia?
Fatigue, lightheadedness, pale skin, chest pain, shortness of breath, tachycardia.
155
What are the characteristics of 'warm' autoimmune hemolytic anemia?
More common; autoantibodies react at body temperature; can be primary or secondary.
156
What can cause 'warm' autoimmune hemolytic anemia?
Medications like cephalosporins, dapsone, levodopa, and others.
157
What are the characteristics of 'cold' autoimmune hemolytic anemia?
Not as common; autoantibodies react at temperatures lower than body temperature; also known as cold agglutinin disease.
158
What are the diagnostic findings for Autoimmune Hemolytic Anemia?
Decreased hemoglobin/hematocrit, increased reticulocyte count, increased LDH, decreased haptoglobin, Coombs test will detect antibodies.
159
What is the treatment for Autoimmune Hemolytic Anemia?
Steroids, immunosuppressives, blood transfusions.
160
What is Aplastic Anemia?
A rare and life-threatening disorder due to malfunctioning bone marrow and pancytopenia.
161
What age groups are most frequently affected by Aplastic Anemia?
Occurs most frequently between the ages of 10 and 25 years and over 60 years old.
162
What are the two main types of Aplastic Anemia?
Acquired (70-80%): idiopathic, infection, exposure to drugs or radiation; Inherited (15-20% of cases).
163
What are the symptoms of Aplastic Anemia?
Anemia: weakness and fatigue; Neutropenia: susceptible to infections; Thrombocytopenia: bleeding, bruising.
164
What physical exam findings are associated with Aplastic Anemia?
Pallor, Petechiae, Epistaxis, Menorrhagia in menstruating females.
165
How is Aplastic Anemia diagnosed?
Perform CBC with differential to detect pancytopenia and assess disease severity; Assess bone marrow features; Rule out causes of secondary aplastic anemia.
166
What factors influence the treatment of Aplastic Anemia?
Depends on age of patient, presence of appropriate donor for hematopoietic stem cell transplantation (HSCT), disease severity, comorbidities.
167
What are the treatment options for Aplastic Anemia?
Bone marrow transplantation and immunosuppressive drugs.
168
What is Hemochromatosis?
Increased accumulation of iron as hemosiderin in various organs; an autosomal recessive disease.
169
What can cause secondary Hemochromatosis?
Parenteral iron overload (many transfusions).
170
What factors can potentiate liver disease in Hemochromatosis patients?
Alcohol consumption, diabetes, or obesity.
171
What are the common presentations of Hemochromatosis?
Most adults are not symptomatic; may present with abnormal liver studies or high risk due to family history.
172
What are the classic symptoms of fully established Hemochromatosis?
Cirrhosis, diabetes, skin pigmentation (bronze diabetes).
173
How is Hemochromatosis diagnosed?
Mildly abnormal liver chemistries; elevated plasma iron with > 45% transferrin saturation; elevated serum ferritin; genetic testing; CT or MRI may show iron overload; liver biopsy.
174
What are the treatment options for Hemochromatosis?
Chelating agents, phlebotomy, decrease iron-rich food intake, liver transplant.
175
What are Porphyrias?
A group of disorders caused by deficiencies of the enzymes that help produce heme.
176
What accumulates in the blood in Porphyrias?
Heme precursors (porphyrins).
177
What is the most common type of Porphyria?
Porphyria cutanea tarda, caused by deficiency of enzyme Uroporphyrinogen decarboxylase.
178
What are the symptoms of Porphyria cutanea tarda?
Skin becomes very photosensitive due to buildup of heme precursors.
179
What is the second most common type of Porphyria?
Acute intermittent porphyria, caused by deficiency of porphobilinogen deaminase.
180
What symptoms are associated with Acute Intermittent Porphyria?
Intermittent but severe abdominal pain, neurologic dysfunction, psych disturbances.
181
What is Paroxysmal Nocturnal Hemolytic Anemia?
A rare genetic issue that leads to complement-mediated hemolysis and is often identified in adulthood.
182
What are the symptoms of Paroxysmal Nocturnal Hemolytic Anemia?
Symptoms include hemolytic anemia, decrease in nitric oxide, fatigue, dark urine, GI issues, erectile dysfunction, and thrombosis.
183
How is Paroxysmal Nocturnal Hemolytic Anemia diagnosed?
Diagnosis is made using flow cytometry.
184
What is the treatment for Paroxysmal Nocturnal Hemolytic Anemia?
Treatment involves drugs that block complement.
185
What is the typical type of RBC transfusion used?
Usually 'packed RBCs' where plasma is removed and also usually 'leukocyte reduced'.
186
What may be used in emergencies for RBC transfusion?
Whole blood may be used in emergencies.
187
What tests are performed on recipient samples for RBC transfusion?
Tests include Hg/Hct, ABO/Rh, and antibody testing.
188
What tests are performed on donor samples for RBC transfusion?
Tests include ABO/Rh, infectious disease screening, and antibody testing.
189
What is required for both donor and recipient in RBC transfusion?
Both require serologic crossmatch.
190
What are the two types of crossmatching in RBC transfusion?
'Type and screen' or 'type and cross'.
191
What guides transfusions in RBC transfusion?
Hemoglobin guides transfusions.
192
What patient factors need to be considered during RBC transfusion?
Factors include intravascular volume status, evidence of shock, and duration and severity of anemia.
193
What are the indications for RBC transfusion in hospitalized patients?
Indications include hemoglobin < 7 or hemoglobin < 8 if recent surgery/heart disease.
194
What is the expected increase in hemoglobin from RBC transfusion?
Expected increase in adults is (1/10) (Hct by 3%) per RBC unit transfused but may vary in practice.
195
What should be monitored during RBC transfusion?
Monitor for transfusion reactions.
196
What is a platelet transfusion?
Platelet transfusion refers to infusion of platelets to prevent bleeding (prophylactic transfusion) or to control bleeding (therapeutic transfusion) in patients with thrombocytopenia or platelet dysfunction.
197
What is the common threshold for prophylactic platelet transfusions?
Prophylactic platelet transfusions are usually given when platelet count is less than 10,000 mcL.
198
When are prophylactic platelet transfusions given prior to procedures?
They are usually given prior to invasive procedures or surgery in thrombocytopenia patients with a platelet count of less than 50,000 mcL.
199
What is the risk of spontaneous bleeding at a platelet count of 80,000 mcL?
There is a risk of spontaneous bleeding at 80,000 mcL.
200
What is the risk of life-threatening spontaneous bleeding at a platelet count of 5,000 mcL?
There is a risk of life-threatening spontaneous bleeding at 5,000 mcL.
201
How long do platelets live after transfusion?
Platelets live for about 5 days and must be monitored closely for growing infections.
202
What does plasma consist of?
Plasma consists of the noncellular portion of blood that is separated and frozen after collection.
203
What is the typical use of plasma components?
It is used to treat and prevent bleeding in patients with coagulopathy and to replete plasma proteins that may be deficient.
204
What is the typical rate of infusion for plasma components?
The typical rate of infusion is 10-20 mL/kg with an expected increase in coagulation factor activity by 20% immediately after transfusion.
205
What are the types of transfusion reactions?
Transfusion reactions can range from mild (common) to severe (rare).
206
What is acute intravascular hemolysis?
Acute intravascular hemolysis occurs in 1/240,000-760,000 units transfused, usually caused by ABO-incompatible transfusion and can result in organ failure.
207
What is a nonhemolytic febrile reaction?
Nonhemolytic febrile reaction occurs in about 2-3/100 units transfused and is usually mild, presenting with fever, chills, and mild dyspnea.
208
What is a mild allergic reaction to transfusion?
A mild allergic reaction occurs in about 1/100 units transfused, causing urticaria or pruritis due to sensitization to plasma proteins.
209
What are the symptoms of an anaphylactic reaction?
Anaphylactic reactions occur in 1/150,000 units transfused and can cause acute hypotension, hives, abdominal pain, and respiratory distress.
210
What is the risk of infection from transfusions?
Infection risk varies depending on the organism, with newer infectious organisms being more likely to be transferred.
211
What is transfusion-associated circulatory overload (TACO)?
TACO occurs in about 1/100 units transfused and is usually due to excess volume infusion, exacerbating CHF.
212
What is transfusion-related acute lung injury (TRALI)?
TRALI occurs in 1/5000 units transfused and is characterized by acute pulmonary edema due to antibodies in the donor blood reacting with the recipient.
213
What is a delayed hemolytic reaction?
A delayed hemolytic reaction occurs 1-30 days after transfusion and is usually less severe than acute hemolytic reactions.
214
What is transfusion-associated graft-versus-host disease?
This occurs when donor lymphocytes attack an immunocompromised recipient’s bone marrow and has a high rate of mortality.
215
What is thrombocytopenia?
Abnormal decrease in the number of platelets in the blood (<150).
216
What can cause thrombocytopenia?
Decreased production/dysfunctional platelets, increased destruction, splenic sequestration.
217
What are the signs and symptoms of thrombocytopenia?
Clinically relevant spontaneous bruising, epistaxis, gingival bleeding, or other types of hemorrhage generally do not occur until the platelet count has fallen below 10,000-20,000 mcL.
218
What are the causes of decreased production of platelets?
Congenital (rare, usually present early in childhood with bleeding, bruising) and acquired (aplastic anemia, myelodysplastic syndrome, alcohol, drugs platelet dysfunction, chemotherapy/radiation).
219
What are possible causes of thrombocytopenia?
Idiopathic thrombocytopenia purpura (ITP), heparin-induced thrombocytopenia (HIT), microangiopathic disorders, thrombotic thrombocytopenia purpura (TTP), disseminated intravascular coagulation (DIC), hemolytic uremic syndrome (HUS).
220
What symptoms may patients with thrombocytopenia present with?
Patients may be asymptomatic or present with bleeding and/or clinical manifestations associated with the underlying cause of thrombocytopenia.
221
What should be asked about in a patient history for thrombocytopenia?
History of bleeding (spontaneous and with hemostatic challenges), family history of thrombocytopenia, recent viral and bacterial infections, history of malignancies, liver disease, alcohol intake, illicit drug use.
222
What physical exam findings should be assessed in thrombocytopenia?
Assess skin and palate for bruising, purpura, and petechiae; examine for signs associated with underlying causes like chronic liver disease, skin rash, skin necrosis, splenomegaly, and fluid infection.
223
What diagnostic tests should be performed for thrombocytopenia?
Complete blood count with white blood cell differential and evaluation of peripheral blood smear.
224
What is the treatment for thrombocytopenia?
Treat any precipitating cause, discontinue all possible medications, discontinue drugs that interfere with platelet function, observe if not severe and no bleeding, use steroids and IV immunoglobulin for immune thrombocytopenia, and give platelet transfusion if evidence of bleeding.
225
What is Immune Thrombocytopenia Purpura (ITP)?
A condition where pathogenic antibodies bind to platelets, accelerating their clearance from circulation.
## Footnote
Can be primary (idiopathic) or secondary to autoimmune disease or infection (HIV, hep C, H. pylori).
226
What are the subsets of ITP?
ITP can be primary or secondary. There is also a subset called drug-induced ITP.
## Footnote
Drugs causing immune reactions include beta lactam antibiotics, cabamazepine, heparin, MMR vaccine, phenytoin, bactrim, valproic acid, and vancomycin.
227
How does ITP present clinically?
Patients may not appear sick but can show symptoms like bleeding gums or excessive bruising.
228
How is ITP diagnosed?
Diagnosis is a diagnosis of exclusion, with isolated thrombocytopenia on labs.
229
What is the treatment for ITP?
Treatment includes steroids at high doses for multiple months, followed by weaning off. Avoid the causative agent.
230
What is Heparin Induced Thrombocytopenia (HIT)?
A condition affecting about 3% of patients exposed to unfractionated heparin and 6% exposed to LMWH.
231
When does HIT occur?
HIT occurs within 5-14 days of initial exposure, about 1 day after reexposure.
232
What are the symptoms of HIT?
Patients can experience thrombosis, skin necrosis, or anaphylaxis, along with a fall in platelet count.
233
How is HIT diagnosed?
Diagnosis involves identifying thrombocytopenia and using the 4T score system.
234
What is the treatment for HIT?
The treatment is to discontinue heparin and use an alternative anticoagulant. Avoid heparin.
235
What is Thrombotic Thrombocytopenia Purpura (TTP)?
A condition characterized by a high rate of morbidity without treatment (90%).
236
What enzyme is associated with TTP?
ADAMTS13, which cleaves large vWF precursor into smaller vWF.
237
What are the causes of TTP?
Can be inherited or idiopathic.
238
How does inherited TTP occur?
The body does not make ADAMTS13 properly.
239
What causes idiopathic TTP?
Autoantibodies to ADAMTS13.
240
What is the consequence of large vWF precursors in TTP?
They cause tiny clots to form throughout blood vessels, using up available platelets.
241
What are the physical exam findings in TTP?
Petechiae, purpura, bleeding, and can lead to stroke.
242
What is the typical demographic for TTP?
Middle-aged individuals.
243
What are the diagnostic criteria for TTP?
Thrombocytopenia, microangiopathic hemolytic anemia, and lack of ADAMTS13 activity (less than 10% of normal).
244
What is the treatment for TTP?
Plasma exchange and high dose steroids.
245
What is Disseminated Intravascular Coagulation (DIC)?
A condition caused by uncontrolled local or systemic activation of coagulation, leading to widespread tiny clot formation.
246
What are the consequences of DIC?
Depletion of coagulation factors and fibrinogen, often resulting in thrombocytopenia.
247
What are common causes of DIC?
Sepsis, pregnancy, cancer, trauma, burns, and massive PE.
248
What is the typical demographic for DIC?
Older people.
249
What are the symptoms of DIC?
Bleeding usually occurs at multiple sites or can be widespread.
250
What are the signs of bleeding in DIC?
Bleeding from the eyes, urine, nose, and other sites.
251
What are the diagnostic criteria for DIC?
Thrombocytopenia, elevated PTT and PT/INR, and low fibrinogen.
252
What is the treatment for DIC?
May require platelet or FFP transfusion.
253
What is Hemolytic Uremic Syndrome (HUS)?
A syndrome characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury.
254
What are the two forms of Hemolytic Uremic Syndrome (HUS)?
Typical HUS, caused primarily by Shiga toxin (often from shiga-toxin producing E coli- O157), and Atypical HUS (aHUS), which is genetic and involves over-activation of the alternate complement pathway.
255
Who is most commonly affected by Hemolytic Uremic Syndrome (HUS)?
Children are often affected, with a hallmark symptom of diarrhea that turns bloody after 3-5 days.
256
What are the physical symptoms of Hemolytic Uremic Syndrome (HUS)?
Petechiae, purpura, and dark urine.
257
How is Hemolytic Uremic Syndrome (HUS) diagnosed?
Diagnosis is based on hemolytic anemia, thrombocytopenia, and elevated creatinine/BUN levels.
258
What is the treatment for Hemolytic Uremic Syndrome (HUS)?
Supportive care; antibiotics or motility-slowing agents should not be used.
259
What is Splenic Sequestration?
A condition where an enlarged spleen sequesters extra platelets, leading to thrombocytopenia.
260
What are some causes of splenomegaly leading to Splenic Sequestration?
Lymphomas, cirrhosis, and infections such as EBV.
261
What is Hemophilia A?
An X-linked recessive bleeding disorder caused by a deficiency or absence of coagulation factor VIII.
262
Who is primarily affected by Hemophilia A?
Almost exclusively males, as it is X-linked and four times more common than Hemophilia B.
263
What are common symptoms of Hemophilia A?
Bleeding tendency, with most bleeding occurring internally into joints or muscles, and spontaneous bleeding.
264
What are the life-threatening sites of bleeding in Hemophilia A?
Intracranial, neck, throat, chest, and GI tract.
265
What are some signs of bleeding into joints in Hemophilia A?
Unusual sensations like tingling and tightness, loss of range of motion, warmth, swelling, and tenderness.
266
How is Hemophilia A diagnosed?
Diagnosis is confirmed by low Factor VIII activity level (typically < 30-35%) with normal von Willebrand factor antigen level.
267
What is the treatment for Hemophilia A?
Referral to specialized treatment centers, with several types of Factor VIII replacements and treatment protocols.
268
What is Hemophilia B?
An X-linked recessive bleeding disorder caused by a chromosomal mutation resulting in a deficiency or absence of coagulation factor IX.
## Footnote
Also known as "Christmas disease" and is almost exclusively found in males.
269
What are the symptoms of Hemophilia B?
Same as Hemophilia A.
270
How is Hemophilia B diagnosed?
Same as Hemophilia A, just with factor IX.
271
What is the treatment for Hemophilia B?
Same as Hemophilia A.
272
What is Hemophilia C?
A very rare factor XI deficiency with an autosomal recessive pattern of inheritance, affecting both males and females equally.
## Footnote
Most problems are caused during childbirth.
273
What is Von Willebrand Disease?
The most common bleeding disorder caused by quantitative or qualitative defects in vWF factor activity, usually congenital but may be acquired in rare cases.
## Footnote
It has three types: Type 1 (quantitative deficiency), Type 2 (qualitative deficiency), and Type 3 (total deficiency).
274
What is the inheritance pattern of Von Willebrand Disease?
Autosomal inheritance with equal frequency in men and women.
275
What are the symptoms of Von Willebrand Disease?
Typically present with mucocutaneous bleeding, including epistaxis, gingival bleeding, easy bruising, GI bleeding, menorrhagia, and postpartum bleeding.
## Footnote
Most patients (60-80%) have excessive bleeding after surgery or dental extractions.
276
How is Von Willebrand Disease diagnosed?
Decreased vWF activity.
277
What is the treatment for Von Willebrand Disease?
Desmopressin for Type 1 and vWF concentrates for Types 2 and 3.
## Footnote
Patients may be pretreated for surgical/dental procedures.
278
What is Vitamin K required for?
Vitamin K is required for the function of coagulation factors II, VII, IX, and X.
279
Why is dietary vitamin K deficiency uncommon in healthy adults?
Vitamin K is widely distributed in green vegetables and synthesized by gut bacteria.
280
What can cause significant morbidity/mortality in newborns regarding Vitamin K?
Newborns not given Vitamin K at birth can experience significant morbidity/mortality.
281
Why are neonates prone to vitamin K deficiency?
Neonates are prone to vitamin K deficiency due to poor placental transmission, immature liver for prothrombin synthesis, low levels in breast milk, and a sterile gut in the first few days.
282
What can cause vitamin K deficiency in adults?
Vitamin K deficiency in adults can result from malabsorption and is high in hospitalized patients on broad-spectrum antibiotics with poor or no oral intake.
283
What are the usual manifestations of vitamin K deficiency in adults?
Bleeding, easy bruising, and mucosal bleeding (epistaxis, GI hemorrhage, menorrhagia, hematuria).
284
What are the manifestations of vitamin K deficiency in infants?
Mucosal, GI, or intracranial bleeding.
285
How is vitamin K deficiency diagnosed?
Usually prolonged PT or elevated INR that decreases after Vitamin K administration.
286
What is the treatment for vitamin K deficiency?
IV or oral Vitamin K. All infants should be given Vitamin K at birth.
287
Where are coagulation factors produced?
Hepatocytes are the production site of almost all coagulation factors, protein C, and protein S.
288
What issues can arise from coagulopathy of liver disease?
Bleeding issues or thrombosis issues due to imbalance of production.
289
What are the diagnostic indicators of coagulopathy of liver disease?
PT and PTT will be elevated, and platelets will be low.
290
What is the treatment for bleeding in coagulopathy of liver disease?
Treatment with FFP (fresh frozen plasma). Definitive treatment is addressing the underlying liver disease.
291
What is Virchow’s triad related to thrombosis?
Endothelial damage, hypercoagulability, and blood stasis.
292
What are the risk factors for thrombosis?
Age, obesity, smoking, chronic inflammation, some medications, cancer, recurrent surgery, long travel, genetic predisposition.
293
What are the symptoms of arterial thrombosis?
Causes ischemia/infarct (pain out of proportion, pale, pulseless).
294
What are the symptoms of venous thrombosis?
Causes swelling, pain, and warmth.
295
What is the treatment for arterial thrombosis?
Anti-platelet medications.
296
What is the treatment for venous thrombosis?
Anticoagulants.
297
What is hypercoagulability?
A condition that predisposes individuals to forming clots at earlier ages and in atypical places.
298
What are genetic causes of hypercoagulability?
Decreased protein C, protein S, antithrombin, mutations like Factor V Leiden, Prothrombin G2021A, and elevated homocysteine.
299
What are common clinical presentations of hypercoagulability?
Unprovoked DVT/PE or arterial clots unrelated to atrial fibrillation.
300
What are acquired causes of hypercoagulability?
Antiphospholipid syndrome, some cancers, infections like Covid-19, liver disease, drugs (hormones, heparin), and pregnancy.
301
What are the diagnostic methods for identifying thrombus?
CTA, MRA, angiography, and ultrasound.
302
What is the treatment for hypercoagulability?
Need life-long anticoagulation.
303
What is Factor V Leiden?
The most common genetic predisposition to hypercoagulability, caused by a point mutation leading to over-expression of Factor V.
304
What is the inheritance pattern of Factor V Leiden?
Autosomal dominant.
305
What is the clinical significance of Factor V Leiden mutation?
Incomplete penetrance; most individuals with the mutation do not develop clots, but it is more common to develop DVT and PEs.
306
How is Factor V Leiden diagnosed?
Part of the hypercoagulability workup.
307
What is the treatment for Factor V Leiden?
Anti-coagulation only if thrombosis occurs.
308
What is Antiphospholipid Syndrome (APS)?
The most common acquired predisposition to hypercoagulability, characterized by autoantibodies against phospholipid-binding proteins.
309
What are the primary autoantibodies involved in APS?
Anticardiolipin, anti-beta-2 glycoprotein, and lupus anticoagulant.
310
What are the risk factors for APS?
Chronic inflammatory conditions, especially lupus.
311
What are the clinical presentations of APS?
Associated with arterial and venous thrombosis, as well as recurrent miscarriages.
312
How is APS diagnosed?
Everyone diagnosed with lupus should be tested; it is part of the hypercoagulability workup.
313
What is the primary prevention for APS?
Aspirin.
314
What is the treatment after thrombosis in APS?
Warfarin.
315
What is the treatment during pregnancy for APS?
Aspirin + LMWH (therapeutic-weight based).
316
What types of cancers are more commonly associated with cancer-related thrombosis?
Pancreatic cancer is the most common, followed by lung cancer.
317
What is the typical prophylaxis for cancer-related thrombosis?
No primary prophylaxis is typically recommended unless hospitalized.
318
What is the preferred treatment for thrombosis in cancer patients?
Low Molecular Weight Heparin (LMWH) is preferred for thrombosis treatment.
319
What are vascular purpuras?
Hemorrhagic lesions of the skin and mucous membranes that are non-blanching.
320
What are the characteristics of vascular purpuras?
They can be palpable or non-palpable, inflammatory or non-inflammatory, and can be round or branching (retiform).
321
What are some inflammatory conditions that can cause vascular purpuras?
Behcet disease, erythema multiforme, granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis, IgA vasculitis, and polyarteritis nodosa.
322
What are some non-inflammatory causes of vascular purpuras?
Cryoglobulinemias, Waldenstrom macroglobulinemia, hepatitis C, HIV, hypercoagulopathies, and arthropod bites.
323
What are some non-inflammatory conditions that are not palpable?
Trauma, senile purpura, drug-induced conditions, and microangiopathic disorders (DIC, TTP, HUS).
324
What is Neutropenia?
Decreased Neutrophils, leading to an increased risk of infection.
## Footnote
Classified as chronic (lasting > 3 months) vs. acute (lasting < 3 months), acquired vs. congenital, and extrinsic vs. intrinsic.
325
What is Febrile Neutropenia?
Defined as a single fever (101.0°F) or sustained elevated temperature (100.4°F) in a patient with current or anticipated neutropenia.
## Footnote
Most commonly occurs in patients receiving cytotoxic chemotherapy, affecting 10-50% of patients with solid tumor malignancies and > 80% of patients with hematologic malignancies.
326
What are common symptoms of Polycythemia Vera?
Common complaints include headache, dizziness, tinnitus, blurred vision, and fatigue due to expanded blood volume and increased blood viscosity.
## Footnote
Generalized pruritis is related to histamine release from basophils, and thrombosis may occur.
327
What is the median age at presentation for Polycythemia Vera?
The median age at presentation is 60 years old, with 10% of patients reported to be under 40 years old.
328
What is the treatment of choice for Polycythemia Vera?
Phlebotomy is the treatment of choice, with one unit of blood (approximately 500 mL) removed weekly until the hematocrit is < 45%.
## Footnote
Hematocrit is maintained at <45% by repeated phlebotomy as necessary.
329
What initial tests are performed for diagnosing Polycythemia Vera?
Initial testing includes CBC with blood smear (all increased, RBC morphology normal), EPO levels (decreased in primary, increased in secondary), and bone marrow hypercellularity.
330
What physical exam findings are associated with Polycythemia Vera?
Physical exam may reveal splenomegaly (present in 75% at diagnosis), high blood pressure, and a ruddy complexion.
331
What is Essential Thrombocytosis?
Elevation of platelet count in the absence of other disease.
## Footnote
Also known as primary thrombocytosis, autonomous thrombocytosis, or essential thrombocythemia.
332
What is the typical age range for Essential Thrombocytosis?
50-60 years old with a slightly higher incidence in women.
333
What are common symptoms of Essential Thrombocytosis?
Most patients are asymptomatic at presentation; detection of thrombocytosis is incidental. Symptoms may include thrombosis or hemorrhage.
## Footnote
Examples: large vessel thrombosis, bruising, hematomas, epistaxis, and vasomotor disturbances.
334
What are the diagnostic criteria for Essential Thrombocytosis?
Persistently elevated platelet count over 450, bone marrow biopsy shows increased megakaryocytes, genetic testing, and peripheral blood smear.
335
What is the treatment for Essential Thrombocytosis?
Strict control of coexistent cardiovascular risk factors is mandatory. Treatment of choice is oral hydroxyurea, 500-1000 mg/day. Aspirin may reduce thrombotic complications.
336
What is Chronic Myeloid Leukemia (CML)?
A myeloproliferative disorder characterized by overproduction of myeloid cells.
337
What is the median age of onset for Chronic Myeloid Leukemia?
67 years old, slightly more prevalent in males.
338
What percentage of leukemias does Chronic Myeloid Leukemia account for?
Accounts for 15% of all leukemias.
339
What are common symptoms of Chronic Myeloid Leukemia?
Diagnosis is incidental in about 40% of cases. Symptoms include fatigue, night sweats, malaise, weight loss, low fever, weakness, and splenic enlargement in 40-50% of patients.
340
What are the diagnostic criteria for Chronic Myeloid Leukemia?
CBC with differential and platelets, bone marrow aspirate and biopsy, and cytogenetics (Philadelphia chromosome present).
341
What is the treatment for Chronic Myeloid Leukemia?
Chemotherapy depends on response; certain patients may receive a bone marrow transplant.
342
What is the survival rate for Chronic Myeloid Leukemia?
More than 80% of patients remain alive and without disease progression at 9 years.
343
What is Acute Myeloid Leukemia (AML)?
Characterized by incomplete maturation of blood cells and reduced production of normal hematopoietic elements.
344
What are the types of Acute Myeloid Leukemia?
AML with recurrent genetic abnormalities, AML with myelodysplasia-related features, therapy-related AML (t-AML), AML not otherwise specified (NOS), myeloid sarcoma, myeloid proliferations related to Down syndrome, and blastic plasmacytoid dendritic cell neoplasm.
345
Who is most commonly affected by Acute Myeloid Leukemia?
Most common in elderly persons, with more than half of cases in patients > 65 years old and about ⅓ of cases in patients > 75 years old. Slightly higher incidence in males.
346
What are common symptoms of Acute Myeloid Leukemia?
Common symptoms result from pancytopenia and include fatigue, dyspnea, infection, and bleeding. General PE findings: lymphadenopathy, sternal tenderness, splenomegaly, fever.
347
What are specific findings in Acute Myeloid Leukemia?
Skin may have leukemic infiltrate (chloroma). HEENT may show retinal hemorrhages and gingival hyperplasia. Neuro symptoms include altered mental status and cranial nerve palsies.
348
What are the diagnostic tests for Acute Myeloid Leukemia?
CBC with differential for acute leukemia, bone marrow aspirate and biopsy, cytogenetics, and Auer rods.
349
What is the treatment for Acute Myeloid Leukemia?
Chemotherapy and stem cell transplantation. Approximately 70-80% of adults with AML under age 60 achieve complete remission; adults older than 60 achieve remission in about 50% of instances.
350
What is Chronic Lymphocytic Leukemia (CLL)?
Malignancy of B-Lymphocytes, characterized by immunosuppression, bone marrow failure, and organ infiltration with lymphocytes.
351
Who is most commonly affected by Chronic Lymphocytic Leukemia?
Most common leukemia in adults, often diagnosed between ages 60-74 years old.
352
What are common symptoms of Chronic Lymphocytic Leukemia?
Most patients are asymptomatic at diagnosis; some present with night sweats, weight loss, fatigue, fever, lymphadenopathy, hepatomegaly, and splenomegaly.
353
What is the hallmark of diagnosis for Chronic Lymphocytic Leukemia?
Isolated lymphocytosis, with 75-98% of circulating cells being lymphocytes. Requires CBC, peripheral smear, flow cytometry, and possibly lymph node biopsy.
354
What is the standard treatment for early Chronic Lymphocytic Leukemia?
Observation and monitoring until development of indications for treatment, such as symptoms attributed to CLL or progressive lymphocytosis.
355
What are symptoms that should prompt treatment in Chronic Lymphocytic Leukemia?
Constitutional symptoms (fever, night sweats, extreme fatigue, weight loss), significant hepatomegaly, splenomegaly, lymphadenopathy, recurrent infections, symptomatic anemia, or thrombocytopenia.
356
What is the prognosis for Chronic Lymphocytic Leukemia?
CLL is incurable but has a highly variable disease course. One-third of patients never need treatment. Remissions are common, but relapse is frequent. 5-year survival is approximately 66%.
357
What are adverse prognostic factors in Chronic Lymphocytic Leukemia?
Males, age, advanced stage, and short lymphocyte doubling time (<12 months).
358
What is Acute Lymphocytic Leukemia (ALL) characterized by?
Characterized as B-cell (70-80%) or T-cell.
359
In which demographic is ALL more common?
More common in Hispanic children at ages 2-3.
360
What are some risk factors for ALL?
Risk factors include radiation (prenatal x-ray exposure, tons of CT scans in childhood or adolescence), childhood exposure to pesticides and herbicides, and parental tobacco smoke.
361
What genetic factor is associated with ALL?
Associated with Trisomy 21.
362
How quickly can symptoms of ALL develop?
Symptoms may develop over days to weeks.
363
What are common presenting symptoms of ALL?
Presenting symptoms include fever due to leukopenic infection, fatigue, lethargy, pallor due to anemia, bleeding, petechiae, or bruising due to thrombocytopenia, bone or joint pain, limping, lymphadenopathy, splenomegaly, and hepatosplenomegaly.
364
What oncologic emergencies may occur at presentation of ALL?
Oncologic emergencies may include tumor lysis syndrome, febrile neutropenia, and mediastinal mass compressing the trachea or superior vena cava, causing respiratory distress or superior vena cava syndrome (more common in T-cell ALL).
365
What should be assessed in the physical exam for ALL?
Assess for fever, lymphadenopathy, pallor, headache, and skin findings such as petechiae, purpura, or ecchymosis.
366
What findings may suggest a mediastinal mass in ALL?
Findings such as dullness to percussion may suggest associated pleural effusion.
367
What should be assessed in the abdomen during the physical exam for ALL?
Assess for splenomegaly and hepatomegaly, as the spleen and liver are common extramedullary sites of disease.
368
What are the diagnostic criteria for ALL?
Suspect diagnosis in a child with typical symptoms of ALL, cytopenias, leukocytosis, and/or leukemia blast cells detected on CBC.
369
What diagnostic procedure is performed for ALL?
Perform bone marrow aspirate and biopsy to check for the Philadelphia chromosome.
370
What is the primary treatment for ALL?
Treatment includes chemotherapy and immunotherapy.
371
What is the overall prognosis for newly diagnosed childhood ALL?
Remission is achieved in about 98% of cases.
372
What is the reported 5-year survival rate for children and adolescents with ALL?
5-year survival rate is greater than 90%, with long-term event-free survival about 85%.
373
What is Plasma Cell Myeloma previously called?
Previously called Multiple Myeloma. Disease of the plasma cells.
374
What is the typical age of diagnosis for Plasma Cell Myeloma?
Typically diagnosed around age 70.
375
In which demographic is Plasma Cell Myeloma more common?
More common in African-Americans in the US.
376
What are some risk factors for Plasma Cell Myeloma?
Genetic factors, history of premalignant state (monoclonal gammopathy of undetermined significance), exposure to nuclear radiation, petroleum, pesticides.
377
What are the most common presenting symptoms of Plasma Cell Myeloma?
Fatigue (due to underlying anemia) and bone pain (due to osteolytic skeletal lesions).
378
What does the clinical presentation of Plasma Cell Myeloma include?
End organ damage: hypercalcemia, renal insufficiency, anemia, bone lesions.
379
What should be noted in the history of present illness (HPI) for Plasma Cell Myeloma?
Recurrent infections, bone fractures or kidney problems.
380
What comorbidities should be considered in the past medical history (PMI) for treatment strategies?
Kidney disease, hypertension, and diabetes mellitus.
381
What family history (FH) is relevant for Plasma Cell Myeloma?
History of cancers.
382
What physical exam findings should be assessed in Plasma Cell Myeloma?
Ophthalmologic exam for retinal hemorrhages, skin examination for petechiae, purpura, acrocyanosis.
383
What neurological signs should be evaluated in Plasma Cell Myeloma?
Signs of peripheral neuropathy such as decreased sensation and weakness of extremities.
384
What are key diagnostic indicators for Plasma Cell Myeloma?
Fatigue, bone pain, hypercalcemia, elevated creatinine, anemia.
385
How is Plasma Cell Myeloma diagnosed?
Bone marrow biopsy, skeletal survey, CBC, CMP, Bence Jones Protein in urine. Rouleaux formation on peripheral blood smear.
386
What are the treatment options for Plasma Cell Myeloma?
Chemotherapy, stem cell transplantation, radiation.
387
What characterizes Myelodysplastic Syndrome?
Cytopenias with hypercellular bone marrow and morphologic abnormalities in one or more hematopoietic cell lines.
388
What are the potential causes of Myelodysplastic Syndrome?
Can be idiopathic or due to prior exposure to cytotoxic chemotherapy or radiation therapy.
389
How is Myelodysplastic Syndrome diagnosed?
Bone marrow biopsy.
390
What are the treatment options for Myelodysplastic Syndrome?
Supportive care and chemotherapy. Usually fatal.
391
What is Hodgkin Lymphoma?
Also known as Hodgkin disease, it is a rare but highly curable cancer, accounting for 0.5% of all cancers in the US.
392
What are the types of Hodgkin Lymphoma?
There are several types: Nodular sclerosing subtype, Mixed cellularity subtype, Lymphocyte-rich subtype, and Lymphocyte-depleted subtype.
393
Who is more commonly affected by Hodgkin Lymphoma?
It is more common in men, particularly those aged 15-34 and those over 55 years old.
394
What are the risk factors for Hodgkin Lymphoma?
Risk factors include infectious mononucleosis, EBV infection, family history, HIV, smoking, and childhood or adolescent CT radiation exposure.
395
What is a characteristic cell found in Hodgkin Lymphoma?
The Reed-Sternberg cell, which is a lymphocyte containing more than one nucleus.
396
What are the common symptoms of Hodgkin Lymphoma?
Symptoms include painless supradiaphragmatic lymphadenopathy, unexplained fever, drenching night sweats, and unexplained weight loss greater than 10% within 6 months.
397
What is the significance of family and social history in Hodgkin Lymphoma?
Family history of Hodgkin lymphoma and hematopoietic malignancy, as well as a social history of smoking, are important.
398
What physical examination findings are associated with Hodgkin Lymphoma?
Physical findings may include facial edema due to SVC obstruction and painless adenopathy in cervical and supraclavicular lymph nodes.
399
How does Hodgkin Lymphoma spread?
It arises within a single lymph node area and spreads in an orderly fashion to contiguous lymph nodes.
400
How is Hodgkin Lymphoma diagnosed?
Diagnosis is made with an excisional lymph node biopsy; fine needle aspiration (FNA) is not adequate.
401
What additional tests are performed for Hodgkin Lymphoma diagnosis?
Testing for HIV and hepatitis B/C, along with imaging studies like PET scans, are performed.
402
What are the treatment options for Hodgkin Lymphoma?
Treatment options include chemotherapy, radiation, and surgery.
403
What are the cure rates for Hodgkin Lymphoma based on stage?
For low stage, the cure rate is 75% with a 10-year survival of 90%. For higher stage, the cure rate is 55% with a 10-year survival of 50-60%.
404
What is Non-Hodgkin Lymphoma?
A group of cancers of lymphocytes, with 85% being B-cell and 15% T-cell.
## Footnote
Classified as indolent (low grade) or aggressive (intermediate-high grade).
405
What percentage of new cancers in the US each year does Non-Hodgkin Lymphoma represent?
5% of all new cancers in the US each year.
406
What are the risk factors for Non-Hodgkin Lymphoma?
Autoimmune disorders, immunosuppression, infections, smoking, genetics, obesity, family history.
407
What causes Non-Hodgkin Lymphoma?
Accumulation of multiple genetic alterations including gene mutation, amplification or deletion, and chromosomal translocations.
408
What are the common symptoms of Non-Hodgkin Lymphoma?
Painless, persistent lymphadenopathy at a single or multiple sites, constitutional symptoms like weight loss, fever, pruritis, fatigue, splenomegaly, and symptoms from compression on organs by enlarged lymph nodes.
409
How is Non-Hodgkin Lymphoma diagnosed?
Biopsy of lymph nodes, PET scan, and bone marrow biopsy can be used for staging.
410
What are the treatment options for Non-Hodgkin Lymphoma?
Chemotherapy, radiation, and surgery.
411
What is Amyloidosis?
A group of conditions characterized by extracellular deposition of abnormal proteins.
412
What organs can be involved in Amyloidosis?
Can involve multiple organs and can be primary or secondary due to infection, inflammation, or malignancy.
413
What are the common symptoms of Amyloidosis?
Fatigue, weight loss, dyspnea, and dysfunction of one organ usually predominant, although multiple organs are often affected.
414
What skin symptoms are associated with Amyloidosis?
Purpura, including of the periorbital area and neck, thickening of skin and soft tissues.
415
What are some clinical presentations of Amyloidosis?
Neck lymphadenopathy, elevated JVP, S3 gallop, pleural effusion, hepatomegaly, peripheral edema, arthropathy, signs of peripheral neuropathy.
416
How is Amyloidosis diagnosed?
Diagnosis requires a high index of suspicion and is usually made by biopsy as part of work-up for organ dysfunction that is atypical or not from any known cause.
417
What tests are used for identifying amyloidogenic proteins?
Biopsy of involved organ or surrogate site verification of amyloid deposition by classic CONGO RED staining.
418
What is the treatment for Amyloidosis?
Suppress underlying plasma cell dysfunction as quickly as possible: stem cell transplant with chemotherapy, immunosuppressive medications, organ transplant, supportive care.
419
What is the prognosis for Amyloidosis?
Natural history varies; progressive and fatal within 2 years in about 80% of patients. About 5-30% survive more than 10 years from diagnosis, especially poor prognosis with cardiac amyloid.
420
What are malignant effusions?
Fluid accumulation in body cavities due to cancer.
## Footnote
Can occur in pleural, pericardial, and peritoneal spaces.
421
What is hypercalcemia in cancer patients?
A condition affecting 20-30% of cancer patients, often caused by myeloma, breast cancer, or non-small cell lung cancer.
## Footnote
Symptoms include anorexia, nausea, fatigue, and constipation.
422
What is tumor lysis syndrome?
A massive release of cellular contents into the bloodstream after rapid lysis of malignant cells, leading to complications like hyperkalemia and renal failure.
## Footnote
Can result in seizures, arrhythmias, or cardiac death.
423
What are infections in cancer patients?
Infections can be an emergency in neutropenic patients due to impaired defense mechanisms or immunosuppressive effects of chemotherapy.
## Footnote
Must look for all sources of infection: urine, blood, lungs, etc.
424
What is the MOA of heparin?
Helps clots from getting bigger and prevents new clots.
425
Which WBCs make up about 30% of healthy individuals?
Lymphocytes.
426
CD20 positive lymphoma is best treated with?
Rituximab.
427
What is tracked to monitor the production of RBCs?
Reticulocytes.
428
How long should warfarin take to reach an INR of 2-3?
5-7 days.
429
What is iron stored as?
Ferritin.
430
What would we expect on a peripheral smear of Hgb H alpha thalassemia?
Target cells and Heinz bodies.
431
ALL is treated with which chemotherapeutic?
Vincristine.
432
The most commonly used fibrinolytic is?
Tenecteplase.
433
What is the hallmark of diagnosis for Chronic lymphocytic leukemia?
Isolated lymphocytosis (75%-98% lymphocytes).
434
Uncle has a bleeding disease but mom didn't; likely diagnosis is?
Hemophilia B.
435
Patient with a prostate mass should be treated with?
Goserelin.
436
What is the cause of vaso-occlusive pain in sickle cell?
Low oxygen.
437
Medication used for HIT treatment?
Argatroban.
438
Patient is taking oral iron and vitamin C, now needs infusion. What do you give?
Iron sucrose.
439
What would Hemophilia A increase?
PTT.
440
What would heparin increase?
PTT.
441
Treatment for trophoblastic tumors, RA, psoriasis, but can't be taken with NSAIDs?
Methotrexate.
442
What should be done before giving blood?
Type and screen.
443
What condition is associated with painless, firm lymph nodes in multiple spread out areas?
Non-Hodgkins lymphoma
444
What condition is associated with the Philadelphia chromosome?
CML
445
In HUS, what occurs after a child has bloody diarrhea for 4 days?
Elevated BUN and creatinine
446
What can macrocytic anemia be due to?
Lack of intrinsic factor
447
What symptoms are shown by medication used in tumor lysis syndrome?
N/V/D, dark urine, and hyperkalemia
448
Why did a sepsis patient's hemoglobin drop after fluids?
Dilution from fluids
449
What disorder can progress to AML?
Myelodysplastic syndrome
450
What does someone with new heavy periods and tingling likely have?
Aplastic anemia
451
What is the most likely cause of warm autoimmune hemolytic anemia?
Drug or autoimmune
452
Increased reticulocytes help with the diagnosis of what?
CLL
453
What does thrombin do in the clotting cascade?
Activates fibrinogen into fibrin
454
What inhibits platelets floating around in the blood?
Nitric oxide
455
What do cancer patients who are neutropenic need to stimulate leukocytosis?
Colony-stimulating factor (CSF)
456
What blood product would most rapidly increase oxygen binding capacity in active bleeding?
Packed RBCs
457
What factor is used in the extrinsic pathway?
Factor VII
458
What kind of blood can a person who is A- receive?
A- and O-
459
What is released by platelets to enhance vasospasm and aggregation?
Thromboxane A2
460
A yellow child likely has increased levels of what?
Bilirubin
461
What glycoprotein aids in platelet adhesion?
von Willebrand factor
