Heme Clinical Manifestations

Question 1

general thrombocytopenia

Answer 1

SUPERFICIAL bleeding.
Purpura (skin and MM).
Petechia (Mostly on the LE).
Ecchymoses.
Do not blanch under pressure.

Question 2

immune thrombocytoenic purpura

Answer 2

often asymptomatic.
mucocutaneous bleeding.
Not associated with splenomegaly.

Question 3

heparin induced thrombocytopenia

Answer 3

Bleeding.

Venous thrombosis, gangrene, organ infarction, and skin necrosis.

Question 4

disseminated intravascular coagulation (DIC)

Answer 4

bleeding- oozing from venipuncture sites, catheters, drains.
extensive bruising.
thrombosis-gangrene or multi organ failure.`

Question 5

hemophilia a and b

Answer 5

deep bleeding in JOINTS or MUSCLE BEDS.
Chronic disability due to swelling, deformity, severe pain, and limited rom due to repeated joint hemorrhages.
GI bleeding and brain bleeding.

Question 6

factor v leiden mutation

Answer 6

pain, swelling and tenderness, mc in LE

Question 7

protein c or s deficiency

Answer 7

increased incidence of DVT/PE

warfarin induced skin necrosis

Question 8

Hemolytic anemia

Answer 8

jaundice

pigmented gallstones

Question 9

sickle cell trait

Answer 9

asymptomatic and not anemic unless exposed to severe hypoxia, extreme physical stress, dehydration or high altitude.
episodic hematuria or isosthenuria due to kidney papillary necrosis.
splenic infarction at high altitude and sudden death with prolonged exercise or physical training.

Question 10

Sickle Cell Disease

Answer 10

Dactylitis is common initial presentation (inflammation of fingers & toes -> sausage fingers)
Infections -> functional asplenia (from repeated splenic infarctions) leads to increased risk of encapsulated organisms)
Splenic sequestration crisis -> vasoocclusion in the spleen & RBC pooling in the spleen
Painful vasoocclusive “crisis” -> triggers by hypoxia, cold weather, infection, etc. Abrupt onset of pain (chest, back, abdominal, bone). Renal or hepatic dysfunction. Priapism common.
Bony vasoocclusion -> can lead to avascular necrosis of bones
Stroke -> 25% of patients have a stroke by age 45

Question 11

Thalasemmias

Answer 11

1. Ineffective erythropoiesis- anemia, bone pain & fracture, hepatomegaly, splenomegaly
2. Hemolysis- anemia, gallstones
3. Iron deposition in visceral organs- endocrine dysfunction, liver cirrhosis, arrhythmia & heart failure

Question 12

alpha thalassemia- aka hemoglobin h disease

Answer 12

At birth- jaundice & anemia
Excess beta chains form insoluble beta chain tetramers (Heinz bodies).
Heinz bodies in RBCs leads to their destruction by the spleen.

Question 13

beta thalassemia major (Cooley’s Anemia)

Answer 13

Symptoms begin after 6 months of age.
Decreased production of beta globin chains.
Decreased beta chains leads to an increase of alpha chain production but the alpha chains aren’t able to form tetramers (because they need two beta chains).
This leads to ineffective erythropoiesis and shortened RBC life span.
Anemia can be so severe that it leads to irritability, dyspnea and mental delays.
Patients typically have osteoporosis by age 10.

Question 14

G6PD deficiency

Answer 14

asymptomatic until times of oxidative stress.
Episodic hemolytic anemia.
Neonatal jaundice.

Question 15

Hereditary spherocytosis (HS)

Answer 15

Recurrent episodes of hemolysis (anemia, jaundice & splenomegaly) are the hallmark.
Increased pigmented gallstones

Question 16

autoimmune hemolytic anemia

Answer 16

Anemia, hemolysis, splenomegaly.
Cold-induced vascular phenomena in CAD: acrocyanosis (numbness or mottling of the fingers, toes, nose, ears) that resolves with warming of body parts. Reynaud phenomenon, livedo reticularis (mottling).

Question 17

thrombotic thrombocytopenia purpura (TTP)

Answer 17

Thrombocytopenia = mucosal bleeding
Microangiopathic hemolytic anemia = splenomegaly, anemia, jaundice
Neruologic symptoms = headache, visual changes, confusion, seizures
Kidney failure or uremia (not common)
Fever (rare)

Question 18

Hemolytic uremic syndrome (HUS)

Answer 18

Prodromal diarrhea 5-10 days prior (abdominal pain, bloody diarrhea)
Renal involvement (oliguria & hematuria)
Physical exam = pallor, jaundice, hepatosplenomegaly

Question 19

Paroxysmal Nocturnal Hemoglobinuria

Answer 19

Hemolytic anemia (hemoglobinuria) - dark, cola colored urine during the night or early in the morning with partial clearing during the day.
Pancytopenia  = often occurs after bone marrow injury.
Unexplained thrombosis in atypical veins = despite pancytopenia, thrombosis in hepatic veins, cerebral veins, abdominal veins.

Question 20

iron deficiency anemia

Answer 20

fatigue, weakness, dyspnea.
CNS: Poor concentration, apathy, irritability, poor school performance, cognitive disturbances.
Pagophagia: Craving for ice.
Pica: craving for non food substances (clay, starch).

Question 21

lead poisoning

Answer 21

Neuro symptoms: ataxia, fatigue, learning disabilities, difficulty concentrating, hearing loss.
GI: “colic” with intermittent abdominal pain, vomiting, loss of appetite and constipation.
Renal: glycosuria, proteinuria.
General anemia symptoms: fatigue, weakness, dyspnea.

Question 22

anemia of chronic disease

Answer 22

The initial severity is related to the underlying disorder, but, although persistent, it usually does not persist.
Many patients are asymptomatic and the anemia is often found coincidentally.

Question 23

aplastic anemia

Answer 23

Pancytopenia: easy bruising, bleeding, frequent infections, fatigue.
Thrombocytopenia: mucosal bleeding.
Leukopenia: recurrent or frequent infections, fever

Question 24

b12 deficiency

Answer 24

anemia sxs.
Neuro symptoms: symmetric paresthesia most common initial symptom (especially in the legs); lateral and posterior spinal cord demyelination & degeneration, ataxia, vibratory, sensory and proprioception deficits, decreased deep tendon reflexes, Babinski POSITIVE, seizures, psychosis.
Epithelial Symptoms = glossitis, diarrhea, malabsorption

Question 25

folate deficiency

Answer 25

Anemia symptoms similar to B12 symptoms, but NO neurological symptoms

Question 26

hereditary hemochromatosis

Answer 26

Asymptomatic in early stages - symptoms usually begin after 40 Liver = cirrhosis Endocrine = diabetes from pancreatic beta cell damage Heart = restrictive or dilated cardiomyopathy, arrhythmias Reproductive = hypogonadism, erectile dysfunction Skin = metallic or bronze skin (from iron deposition)

Question 27

polycythemia vera (primary erythrocytosis)

Answer 27

Increased RBC mass due to hyperviscosity or thrombosis Hyperviscosity = pruritis, especially after a hot bath or shower (due to histamine release from basophils), headache, dizziness, tinnitus, blurred vision, fatigue Thrombosis = erythromelalgia (episodic burning or throbbing of hands & feet with edema, cyanosis or pallor), TIA

Question 28

myelodysplastic syndrome

Answer 28

Often present as asymptomatic pancytopenia on routine CBC | Pancytopenia = easy bruising, bleeding, frequent infections and fatigue

Question 29

acute myeloid leukemia (aml)

Answer 29

Pancytopenia -> anemia (fatigue is the most common presenting symptom) Dyspnea (why? _______________________) Weakness Thrombocytopenia (what is a symptom of this? ___________) Neutropenia (increased infections and fever)

Question 30

leukostasis

Answer 30

WBC count > 100,000 & symptoms of tissue hypoxia

Question 31

chronic myelogenous leukemia

Answer 31

``` Fatigue Night sweats (oh! Remember those ROS!) Weight loss (oh! Remember those ROS!) Fever Pruritis after hot baths & showers (What other disease has this symptom? ______________) Splenomegaly is MC finding on PE. ``` Chronic phase = 70% asymptomatic; usually incidental finding on CBC Accelerated/Blast phase = neutrophil differentiation becomes progressively impaired and counts are more difficult to control with chemo. This causes the symptoms of weight loss, night sweats, fatigue, and thrombocytopenia (what symptom? ___________) Blast crisis = presents as acute leukemia with lymph node, skin and soft tissue involvement

Question 32

acute lymphocytic leukemia (all)

Answer 32

Symptoms of pancytopenia: fever, infections, bleeding from thrombocytopenia (petechiae, purpura) & anemia sxs. MC site for mets is CNS or testes. CNS symptoms include headache, visual changes, vomiting

Question 33

chronic lymphocytic leukemia (cll)

Answer 33

pancytopenia--> easy bruising, bleeding, frequent infections and fatigue

Question 34

multiple myeloma

Answer 34

Bone pain = most common symptom; vertebral most common, ribs. Due to osteolytic lesions, also have pathogenic osteopenic fractures, spinal cord compression, radiculopathy. Recurrent infections (leukopenia & ineffective Ig production); hyperviscosity (esp. with IgM) Elevated calcium Anemia Kidney injury

Question 35

hodgkin lymphoma

Answer 35

Asymptomatic, painless lymphadenopathy = most common presentation (70%) Usually painless but ETOH ingestion may induce lymph node pain within minutes Neck LN are the most common (cervical and supraclavicular), axilla; rubbery, fixed, may fluctuate in size Mediastinal LN or mass is the second most common presentation- often an incidental finding on chest radiograph. Can cause chest pain, cough or dyspnea. Large mediastinal adenopathy is adverse prognostic factor Fatigue, pruritis, intra-abdominal disease, hepatomegaly, splenomegaly ”B symptoms” = fever, night sweats, weight loss (>10% of body weight over 6 months). Pel-Ebstein fever = cyclical fever that recurs at variable intervals of several days or weeks and lasts 1-2 weeks. Symptoms due to cytokine release by Reed-Sternberg cells. B symptoms indicate advanced disease.

Question 36

non hodgkin lymphoma

Answer 36

Local = painless lymphadenopathy; hepatosplenomegaly Extranodal involvement = GI tract is most common, CNS Systemic B symptoms = fever, night sweats, weight loss