Chaper 11 (blood vessels) Flashcards

(104 cards)

0
Q

What type of patients are seen with hereditary spherocytosis?

A

1:2,000 individuals from Northern European ancestry

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1
Q

What are the pathologic cells of hereditary spherocytosis?

A

red blood cells (erythrocytes), destroyed via hemolysis

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2
Q

What are some unique features of hereditary spherocytosis?

A

autosomal dominant mutations in RBC membrane proteins, weak RBCs are removed by spleen, manifests with anemia and splenomegaly, jaundice, RBCs lack central pallor

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3
Q

What is the prognosis of hereditary spherocytosis?

A

variable severity, most have minor anemia, possibly complicated by parvovirus B19 infection (aplastic crisis), splenectomy may be treatment for severely affected patients

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4
Q

What are the pathological cells for sickle cell anemia?

A

RBCs, destroyed via hemolysis

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5
Q

What type of patients are seen with sickle cell anemia?

A

8% of african americans are heterozygotes (trait), 1:600 are homozygotes (have anemia)

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6
Q

What are some unique features of sickle cell anemia?

A

autosomal recessive betaglobin mutation in the RBC hemoglobin, makes RBCs prone to thrombosis, exacerbated by: blood is sluggish (spleen, marrow), dehydration, inflammation

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7
Q

What is the prognosis of sickle cell anemia?

A

Heterozygotes are asymptomatic and homozygotes express the condition, 50% of homozygotes live past their 50s, death is most commonly from a stroke or acute chest syndrome

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8
Q

What are the different types of thalassemia?

A

alpha thalassemia, beta thalassemia (beta thalassemia major and beta thalassemia minor)

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9
Q

What are the pathological cells of thalassemia?

A

RBCs, destroyed via hemolysis

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10
Q

What type of patients seen for thalassemia?

A

individuals from: mediterranean, african, Southeast Asia

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11
Q

What are some unique features of thalassemia?

A

Both (alpha and beta) cause early RBC hemolysis and damage RBC precursors in marrow. alpha thalassemia results from alpha-globin mutation and damages RBCs due to unpaired beta-globin (vice versa for beta-thalassemia)

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12
Q

What is the prognosis for alpha-thalassemia?

A

lethal in utero (4/4 mutations) or asymptomatic carrier (1/4 mutations)

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13
Q

What is the prognosis for beta-thalassemia minor?

A

asymptomatic or minor anemia, normal lifespan

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14
Q

What is the prognosis for beta-thalassemia major?

A

sever, hair-on-end skull, growth restrictions, lethal during 20s, hemochromatosis (heart/liver failure) secondary to repeated blood transfusions

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15
Q

What are pathological cells for glucose-6-phosphate dehydrogenase (G6PD) deficiency?

A

RBCs, destroyed via hemolysis

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16
Q

What type of patients are seen with glucose-6-phosphate dehydrogenase deficiency?

A

individuals from mediterranean or the Middle East, 10% of U.S. blacks

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17
Q

What are some unique features of glucose-6-phosphate dehydrogenase deficiency?

A

x-linked, RBCs are susceptible to damage because glutathione can’t be produced without G6PD, hemolysis is exacerbated by oxidants: infections, aspirin, fava beans

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18
Q

What is the prognosis for glucose-6-phosphate dehydrogenase deficiency?

A

many patients are asymptomatic or have very mild anemia, many go undiagnosed due to the lack of obvious features, avoidance of precipitating oxidants is recommended

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19
Q

What are the pathological cells for paroxysmal nocturnal hemoglobinuria (PNH)?

A

RBCs, destroyed via hemolysis

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20
Q

What type of patients are seen with paroxysmal nocturnal hemoglobinuria?

A

individuals from Southeast Asia, or the Far East, frequently diagnoses among middle-aged adults

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21
Q

What are some unique features of paroxysmal nocturnal hemoglobinuria?

A

x-linked, PIGA gene mutations in myeloid stem cells, RBCs are susceptible to damage from complement fixation, which is exacerbated at night (a pH drops slightly)

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22
Q

What is the prognosis for paroxysmal nocturnal hemoglobinuria?

A

this condition is very rare, may be managed with antibodies that inhibit the MAC of the complement system

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23
Q

What are the two types of immunohemolytic anemias?

A

warm and cold

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24
What are the pathologic cells for immunohemolytic anemias?
RBCs, destroyed via hemolysis
25
What type of patients are seen with immunohemolytic anemias?
individuals with leukemia/lymphoma and other or other autoimmune disorders: SLE, RA, systemic sclerosis, or inflammatory bowel disease (crohn, u.c.)
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What are some unique features of immunohemolytic anemias?
opsonization of antibodies against ones own RBCs, commonly results in removal of RBCs in the spleen, complement activation is also involved to a lesser degree
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What is a unique feature of warm immunohemolytic anemia?
IgG, rarely IgA (complement activation)
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What is a unique feature of cold immunohemolytic anemia?
IgM (complement system)
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What is the prognosis of immunohemolytic anemia?
mild-moderate anemia when the condition is isolated, may be associated with reduced lifespan in patients with serious comorbidities
30
What are the pathologic cells for malaria (tertian malaria)?
RBCs, destroyed via hemolysis
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What type of patients are seen with malaria?
anyone infected with malaria: Southeast Asia and Africa
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What are some unique features for malaria?
plasmodium falciparum destroys RBCs as part of its lifecycle, merozoite showers every 48 hours, blackwater fever, fatigue, vomiting, jaundice, headaches, convulsions, loss of consiousness
33
What is the prognosis for malaria?
patient with malaria have a shortened lifespan and die from cerebral malaria, liver or kidney failure
34
What are the pathological cells of iron deficiency anemia (IDA)?
RBC, reduced production
35
What type of patients are seen with iron deficiency anemia?
females of reproductive age the most frequently involved in the US
36
What are some unique features of iron deficiency anemia?
most common cause of anemia (iron is need for Hg), most frequently due to chronic blood loss in the U.S. (e.g. colon cancer, leiomyomas, low dietary intake is common in developing nations, microcytic and hypochromic RBCs
37
What is the prognosis of iron deficiency anemia?
patients may be asymptomatic or manifest with mild anemia (fatigue, weakness, mildly reduced cognition), no impact is observed on lifespan
38
What are the two types of megaloblastic anemias?
folic acid deficiency and vit B12 deficiency
39
What are the pathologic cells for megaloblastic anemia?
RBC, reduced production
40
What type of patients are seen with folic acid megaloblastic anemia?
anyone with a very poor diet or malabsorption
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What type of patients are seen with vitamin B12 deficiency megaloblastic anemia?
older adults with pernicious anemia, strict vegans
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What are some unique features associated with megaloblastic anemia?
dietary deficiency of folic acid or vit b12 produced defective DNA synthesis and megaloblasts are produced, which causes Macrocytic and hyperchromic RBCs, vitamin B12 produces neurologic abnormalities: CNS and PNS both respond well to nutrient supplementation
43
What is the prognosis for megaloblastic anemia?
patients recover well from folic acid or vitamin B12 supplementation therapy, no impact is observed on lifespan
44
What are the pathologic cells for Anemia of chronic disease?
RBC, reduced production
45
What type of patients are seen with anemia of chronic disease?
hospitalized patients with chronic inflammatory conditions (e.g. osteomyelitis, lung abscess, RA, breast cancer, lung cancer)
46
What are some unique features for anemia of chronic disease?
states of chronic inflammation suppress erythropoiesis, increased iron stores in bone marrow, increased serum ferritin, reduced iron-binding capacity (rule out IDA)
47
What is the prognosis for anemia of chronic disease?
mild anemia is the most frequent manifestation, but treatment of the underlying cause of inflammation is most important, underlying condition may impact survival (e.g. cancer), most patients respond well to iron and EPO supplementation
48
What are the pathologic cells for aplastic anemia?
RBC, reduced production
49
What type of patients are seen with aplastic anemia?
anyone may succumb to this condition, since it is most frequently idiopathic, but it may also develop as an adverse drug reaction or toxic exposure to benzene
50
What are some unique features of aplastic anemia?
bone marrow becomes hypocellular and 90% of marrow fills with yellow marrow (fat), T cells are found within the bone marrow, reticulocytopenia in peripheral blood
51
What is the prognosis for aplastic anemia?
anemia is slowly progressive with weakness, pallor, dyspnea, thrombocytopenia causing petechiae, and granulocytopenia causing infection risk, prognosis is unpredictable
52
What are the pathologic cells for myelopthisic anemia?
RBC, reduced production
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What type of patients are seen with myelopthisic anemia?
patients cancer mets: breast, lung, prostate; patients with chronic granulomatous disease
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What are some unique features of myelopthisic anemia?
bone marrow is infiltrated, dacrocytes in peripheral blood
55
What is the prognosis for myelopthisic anemia?
anemia is mild, but treatment of the underlying cause of marrow infiltration is most important (e.g. breast cancer, TB)
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What are the pathological cells of Relative polycythemia (secondary to dehydration)?
RBCs, increased concentration
57
What type of patients are seen with relative polycythemia?
result of reduced fluid (serum) of the blood, which causes a relative increase in % of RBCs per volume
58
What is the prognosis of relative polycythemia?
no impact of lifespan as long as they don't die of hypovolemic shock (severe dehydration)
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What are the types of polycythemia?
polycythemia vera (PCV) and elevated EPO
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What type of pathological cells are in absolute polycythemia?
RBCs, increased production
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What type of patients are seen with absolute polycythemia?
patients with JAK2 mutations develop PCV (polycythemia vera), elevated EPO may be from a medication or from hypoxia (increased altitude)
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What are some unique features of absolute polycythemia?
itching skin or risk for 30% have thrombotic complications: stroke, M.I., organ infarction (spleen, kidneys)
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What is the prognosis for absolute polycythemia?
polycythemia vera: low levels of EPO, patients live 15-3 years without medical management, but are expected to live 10-20 years after diagnosis with management
64
What are the pathologic cells of infectious mononucleosis?
B cells are infected with Epstein-Barr Virus (EBV)
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What type of patients are seen with infectious mononucleosis?
developed: adolescence/young adulthood; developing: early childhood
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What are some unique features of infectious mononucleosis?
"atypical lymphocytes" are CD8+ T cells that are formed to attack the EBV-infected B cells and are found in peripheral circulation, fever, pharyngitis, generalized lymphadenitis, lymphocytosis (12,000-18,000 cells/microL), splenomegaly, diagnosed via monospot test, transmitted via saliva (kiss)
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What is the prognosis for infectious mononucleosis?
self-limiting within 4-6 weeks without treatment
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What are pathologic cells for cat-scratch disease?
Bartonella henselae is introduced to the skin (eventually to lymphatics)
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What type of patients are involved with cat-scratch disease?
90% are pediatrics, frequently with a history of a cat scratch or thorn/splinter
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What are some unique features of cat-scratch disease?
lymphadenitis (axillary and cervical nodes), ~2 weeks post infection, granuloma formation ("irregular stellate necrotizing granulomas")
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What is the prognosis of cat-scratch disease?
self-limiting within 8-16 weeks without treatment, antibiotics may be used in immunosuppressed patients
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What are the pathologic cells for Acute lymphoblastic leukemia/lymphoma (ALL)
MC pre-B cells, but pre-T cells are possible (Lymphoma)
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What type of patients are seen with acute lymphoblastic leukemia/lymphoma (ALL)?
children and adolescents; pre-B cells: age 4; pre-T cells: age 15-20
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What are some unique features of acute lymphoblastic leukemia/lymphoma?
aggressive, represents 80% of childhood leukemia diagnosis; marrow suppression with pancytopenia is common, bone pain, generalized lymphadenopathy, fever, hepatosplenomegaly
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What is the prognosis for acute lymphoblastic leukemia/lymphoma?
improved prognosis: females, age 2-10; most (80%) cured following chemotherapy
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What are the pathologic cells for chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL)
Mature B cells
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What type of patients are seen with Chronic lymphocytic leukemia/small lymphocytic lymphoma?
older adults, average age at diagnosis is age 60, males are twice as likely to develop CLL
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What are some unique features of Chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL)?
most common leukemia of adults, indolent course, commonly associated with immune abnormalities (hypogammagloblinemia), CLL is more common than SLL and primarily involved marrow, SLL = <4,000 lymphocytes/microL and involves lymph nodes; displaces normal marrow and produces pancytopenia
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What is the prognosis for chronic lymphocytic leukemia/small lymphocytic lymphoma?
variable life expectancy, median is 4-6 years after diagnosis
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What are the pathologic cells for follicular lymphoma?
Mature B cells
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What type of patients are seen with follicular lymphoma?
adults > age 50
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What are some unique features of follicular lymphoma?
t(14,18), abnormal BCL2 gene that promoted B cell survival, 40% of non-hodgkin lymphomas, may transition to diffuse large B cells lymphoma (DLBCL), painless generalized lymphadenopathy, centrocytes
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What is the prognosis for follicular lymphoma?
median survival is 7-9 years after diagnosis, incurable prognosis is much worse with DLBCL transition: ~1 year
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What are the pathologic cells for mantle cell lymphoma?
Mature B cells
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What type of patients are seen with mantle cell lymphoma?
adults > age 50, males
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What are some unique features for mantle cell lymphoma?
t(11,14), cyclin D1 dysfunction, abnormal B cells are found in mantle zones of lymph nodes
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What is the prognosis for mantle cell lymphoma?
median survival is 3-5 years after diagnosis, incurable
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What are pathologic cells of diffuse large B cell lymphoma?
Mature B cells
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What type of patients are seen with diffuse large B cell lymphoma?
most commonly adults (age 60), but is also 15% of lymphomas in kids
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What are some unique features of diffuse large B cell lymphoma?
most common lymphoma of adults, aggressive, large cellular morphology
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What is the prognosis for diffuse large B cell lymphoma?
rapidly fatal without treatment (chemotherapy), 80% go into remission with chemo., 50% of those treated are eventually cured
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What are the pathologic cells of burkitt lymphoma?
Mature B cells
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What type of patients are seen with burkitt lymphoma?
children in africa
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What are some unique features of burkitt lymphoma?
one of the fastest growing tumors, extranodal sites are commonly involved (e.g. mandible, maxillae), past EBV infection is a risk factor, "starry sky" cellular appearance, MYC gene mutations
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What is the prognosis of burkitt lymphoma?
most patients are cured following aggressive chemotherapy
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What are the pathologic cells of multiple myeloma?
Plasma cells
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What type of patients are seen with multiple myeloma?
older adults, average diagnosis is age 70, males, individuals of african discent
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What are some unique features of multiple myeloma?
progressive features, myeloma nephrosis from bence-jones proteins, M-spike, "punched out" osteolytic lesions of the vertebrae and calvaria, pathologic fracture, bone pain, hypercalcemia, anemia
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What is the prognosis for multiple myeloma?
survival is 4-6 years after diagnosis, incurable
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What are the pathologic cells for hodgkin lymphoma?
B cells
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What type of patients are seen with hodgkin lymphoma?
bimodal age distribution: young adults (15-34) and older adults (>55 years)
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What are some unique features for hodgkin lymphoma?
more predictable than NHLs, redd-sternberg cells, arises from a single node, spreads to nearby nodes in a predictable manner, painless lymphadenopathy, fever, cachexia, pruritis, anemia. radiation is a risk for other cancers, previous EBV infection is associated with 70% of cases
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What is the prognosis for hodgkin lymphoma?
chemotherapy is very effective at managing HL, nearly all live to see another 5 years after diagnosis and approximately 50% are cured