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STEP 1 (2) > Heme-Pathology (2) > Flashcards

Heme-Pathology (2) Flashcards

1
Q

What is the first step in heme synthesis?

A

glycine + succinyl CoA are combined using vitB6 to form delta-aminolevulinic acid

Enzyme: d-aminolevulinic acid synthase (defect= sideroblastic anemia)

in the mitochondria

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2
Q

What is the second step in heme synthesis?

A

delta-ALA to porphobilinogen using delta-ALA dehydratase (lead poisoning)

in the cytoplasm

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3
Q

What is the third step in heme synthesis?

A

porphobilinogen to hydroxymethlbilane using porphobilinogen deaminase (acute intermittent porphryia)

in the cytoplasm

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4
Q

What are the 4th and 5th steps in heme synthesis?

A

4th: hydroxymethlbilane to uroporpyrinogen III
5th: uroporpyrinogen III to coprophyrinogen III using uroporphyrinogen decarboxylase (porphyria curanea tarda)

both in the cytoplasm

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5
Q

What is the 6th step in heme synthesis?

A

coprophyrinogen III to protoporphyrin and then to heme using Fe2+ and ferrochelatase (lead poisoning)

in the mitochondria

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6
Q

How does iron poisoning cause death?

A

cell death occurs due to peroxidation of membrane lipids resulting in symptoms such as:

N/V, gastric bleeding and scarring

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7
Q

How is iron poisoning tx?

A

IV deferoxamine, oral deferasirox for chelation

dialysis

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8
Q

What is a prothombin test used for?

A

tests function of common and extrinsic pathway factors I II, V, VII, and X

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9
Q

What is a PTT used for?

A

common and instrinic factor tests: all factors except VII, and XIII

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10
Q

How do Hemophilia A,B, or C react to a PT or PTT?

A

increased PTT only

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11
Q

MOI of Hemophilia A? B? C?

A

A and B: X-linked recessive

C: AR

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12
Q

How does hemophilia present?

A

macrohemorrhage- bleeding into joints, easy bruising

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13
Q

How does Vit K deficiency react to a PT or PTT?

A

both increased but bleeding time normal

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14
Q

What things increase bleeding time?

A

defects in platelet plug formation

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15
Q

What is immune thrombocytopenia?

A

the presence of Anti-GpIIB/IIIa Abs that bind platelets and result in splenic macrophage of the complex, commonly following viral illness

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16
Q

Describe TTP

A

Inhibition of deficiency of ADAMTS13 cleavage protein causes larger than usual vMF multimers that increase platelet adhesion and cause thrombosis

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17
Q

How does TTP present?

A

pentad of:

neurological and renal symptoms

fever

thrombocytopenia

and microangiopathic hemolytic anemia

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18
Q

What is the tx of TTP?

A

plasmapheresis and steroids

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19
Q

Which is elevated in von Willebran disease, PT or PTT? Why?

A

Intrinsic pthway coag defect, so PTT (vmF acts as a carrier of factor VIII)

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20
Q

Describe von Willebrand disease

A

AD disorder caused by a lack of circulating vMF leading to a mild bleeding disease and tx with desmopressin

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21
Q

What is DIC?

A

Widespread activation of clotting leading to a deficiency in clotting factors and eventually a leading state where both PT and PTT are elevated

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22
Q

What are some causes of DIC?

A

STOP Making New Thrombi

Sepsis (gram neg)

Trauma

Obstetric Complications

acute Pancreatitis

Malignancy

Nephrotic Syndrome

Transfusion

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23
Q

How does DIC present in labs?

A

increased PT AND PTT

schistocytes

increased fibrin split products (d-dimers)

decreased fibrinogen, factors V and VIII

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24
Q

Describe antithrombin deficiency

A

this is an inherited deficiency (can also be acquired) that has no direct effect on PT, PTT, or thrombin time but diminishes the increase in PTT following heparin administration

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25
Q

How can antithrombin deficiency be acquired?

A

renal failure/nephrotic syndrome with loss in urine leading to increased activity of factors IIa and Xa and hypercoagulopathy

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26
Q

What is Factor V Leiden?

A

production of mutant Factor V that is resistant to degradation by activated protein C (most common caused of inherited hypercoaguloability in whites)

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27
Q

What does a Protein C/S deficiency cause?

A

a decreased ability to inactivate factors Va and VIIIa increasing the risk of thrombotic skin necrosis with hemorrhage following administration of warfarin

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28
Q

What are the options in blood transfusion therapy?

A
  • packed RBCs
  • platelets
  • fresh frozen plasma
  • cyroprecipitate
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29
Q

What are the effects of giving packed RBCs?

A

increased Hb and O2 carrying capacity for acute blood loss or anemia

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30
Q

What are the effects of giving platelets?

A
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31
Q

What are the effects of giving FFP?

A

increased coag factors for tx od DIC, cirrhosis, or immediate warfarin reversal

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32
Q

What are the effects of giving cryoprecipitate?

A

contains fibrinogen, factor VIII, XIII, vFM, and fibronectin

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33
Q

What are the main risks of bloof infusion?

A
  • iron overload
  • hypocalcemia (citrate is a Ca2+ chelater)
  • hyperkalemia (RBCs may lyse)
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34
Q

What is leukemia?

A

lymphoid or myeloid neoplasm with widespread involvement of bone marrow with tumor cells found in peripheral blood

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35
Q

What is lymphoma?

A

disrete tumor mass arising from lymph nodes

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36
Q

What is a leukemoid rxn?

A

an acute inflammatory response to infection, resulting in increased WBC count with increased neutrophils, a left shift, and increased leukocyte alkaline phosphatase (LAP)

NOTE: CML also increases WBC with left shift but does NOT elevate LAP

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37
Q

Describe Hodgkin lymphoma

A

a localized, single group of nodes involved with extranodal invovlement rare and only continguous spread (i.e. much better prognosis than non-Hodgkin lymphoma)

38
Q

What is the strongest predictor of Hodgkin lymphoma prognosis?

A

stage

39
Q

what is the classic cell seen in Hodgkin lymphoma?

A

CD15+ and CD30+ Reed-Sternberg cell

40
Q

Who gets Hodgkin lymphoma?

A

bimodal with young adulthood and 55+ common; more common in men exept the nodular sclerosing type

41
Q

HL has a strong association with _____

A

EBV

42
Q

Describe Non-Hodgkin lymphoma (NHL)?

A

multiple, peripheral node involvement, with extranodal involvement common and noncontiguous spread

43
Q

Who gets Non-Hodgkin lymphoma (NHL)?

A

20-40 yo mostly

44
Q

Which forms of Hodgkin lymphoma have the a) best and b) worst prognosis?

A

a) lymphocyte-rich
b) lymphocyte-mixed or depleted

45
Q

What are some non-Hodgkin neoplasms of mature B cells?

A
  • Burkitt lymphoma
  • Diffuse large B-cell lymphoma
  • Follicular lymphoma
  • Mantle cell lymphoma
46
Q

Who gets Burkitt lymphoma?

A

adolescents

47
Q

What mutations are common in Burkitt lymphoma?

A

t(8:14) translocation of c-myc (8) and heavy chain Ig (14)

48
Q

What is this?

A

Starry-sky appearnace (sheets of lymphocytes with interspered macrophages) in Burkitt lymphoma

49
Q

Burkitt lymphoma has a strong association with _____

A

EBV

50
Q

Who gets diffuse large-B cell lymphoma?

A

usually older adults, but 20% in children (most common type of non-Hodgkin lymphoma in adults)

51
Q

Who gets follicular lymphoma?

A

adults

52
Q

What mutation is present in follicular lymphoma?

A

t(14:18) of heavy chain Ig (14) and BCL-2 (18)

53
Q

Describe follicular lymphoma

A

indolent course with BCl-2 inhibiting cellular apoptosis and presenting with painless waxing and waning LAD

54
Q

Mantle cell lymphoma also occurs in older males. What mutation is present?

A

t(11:14) of cyclin D1 (11) and heavy-chain Ig (14)

55
Q

Mantle cell lymphoma is __+

A

CD5

56
Q

What causes adult T-cell lymphoma?

A

HTLV (associated with IVDU)

57
Q

What is this?

A

Mycosis fungoides/Sezary syndrome

58
Q

What is Multiple Myeloma?

A

a neoplasm arising from a monoclonal plasma cell (fried egg apearance) that arises in marrow and produces large amounts of IgG (55%) or IgA (25%)

59
Q

What are the symptoms of MM?

A

CRAB

hyperCalcemia

Renal Involvement

Anemia

Bone lyitc lesions/Back pain

60
Q

What are some associations of MM?

A
  • infection susceptibility
  • primary amyloidosis (AL)
61
Q

How does MM appearance on x-ray?

A

punched-out lytic bone lesions

62
Q

How does MM appear on serum protein electrophoresis?

A

M spike

63
Q

What are two unique findings with MM?

A
  • Ig light chains in urine (Bence Jones protein)
  • Rouleaux formation, stacked RBCs (below)
64
Q

How is MM distinguished from Waldenstrom macroglobulinemia?

A

WM is associated with an M spike that is IgM and is a hypervisocity syndrome (e.g. blurred vision, Raynaud phenomenon); no CRAB

65
Q

Describe Monoclonal gammopathy of undeterined significance (MGUS)

A

this is a monoclonal expansion of plasma cells, asymptomatic, that may lead to MM (1-2%/yr); no CRAB

66
Q
A
67
Q

What are myelodysplastic syndromes?

A

stem-cell disorders involving ineffective hematopoiesis causing defects in cell maturation of all non-lymphoid linages caused by de novo mutations or environmental exposure (e.g. radiation, benzene, chemo)

68
Q

myelodysplastic syndromes have a significant risk of transformaiton to _____

A

AML

69
Q

What is Pseudo-Pelger-Huet anomaly?

A

the formation of neutrophils with bilobed nuclei seen after chemo

70
Q

Describe what happens in leukemias

A

unregulated growth and differentiation of WBCs in bone marrow causes bone marrow failure leading to anemia, infections, and hemorrhage

71
Q

What are some lymphoid leukemias?

A
  • acute lymphoblastic leukemia/lymphoma (ALL)
  • small lymphocytic lymphoma (SLL)/chronic lymphocytic leukemia (CLL)
  • Hairy cell leukemia
72
Q

Who gets ALL?

A

15 and under yo

73
Q

How can T-cell ALL present?

A

mediastinal mass

74
Q

ALL is associated with what?

A

Down syndrome

75
Q

What mutation has a good prognosis in ALL?

A

t(12:21)

76
Q

Who gets CLL?

A

60+ yo

77
Q

What is this?

A

Hairy cell leukemia, a leukemia of adults

78
Q

What are some myeloid leukemias?

A
  • acute myelogenous leukemia (AML)
  • Chronic myelogneous leukemia (CML)
79
Q

Auer rods (below) are seen in what?

A

AML

80
Q

CML has what classic mutation?

A

Philadelphia chromosome t(9;22), BCR-ABL

81
Q

CML

A

myeloid stem cell proliferation that may transform to AML or ALL

82
Q

One tx option for CML is what?

A

Imatinib

83
Q

What is Langerhan cell histiocytosis?

A

a collective group of proliferative disorders of dendritic (Langerhans) cells that presents in children as lytic bone lesions and skin rash or as recurrent otitis media with a mass involving the mastoid bone

84
Q

Findings of Langerhans cell histiocytosis

A
  • S-100 and CD1a positive
  • Birbeck granules (aka ‘tennis rackets’ on EM)
85
Q

What is polycythemia vera?

A

disorder of increased hematocrit associated with a JAK2 mutation that may present as intense itching after a how shower due to increased basophil action

86
Q

What is a classic but rare symptom of polycythemia vera?

A

erythromelalgia, severe, burning pain and red-blue coloration due to episodic clots in extremity vessels

87
Q

What is essential thrombocytosis?

A

similar to polycythemia vera, but specific for overproduction of abnormal platelets resulting in bleeding and/or thrombosis. Bone marrow contains enlarged megakaryocytes

88
Q

What is myelofibrosis?

A

obliteration of bone marrow due to increased fibroblast activity in response to proliferation of monoclonal cell lines resulting in characteristic ‘teardrop’ cells (below)

89
Q

What cell lines are elevated in polycythemia vera? Mutations?

A

RBCs, WBCs, and platelets elevated

JAK2 mutation

90
Q

What cell lines are elevated in essential thrombocytotis? Mutations?

A

platelets; JAK2

91
Q

What cell lines are changed in myelofibrosis? Mutations?

A

RBCs decreased, others variable; JAK2

92
Q

What cell lines are changed in CML? Mutations?

A

RBCs- decreased

WBCs, platelets- increased

Philadelphia chromosome

STEP 1 (2) (16 decks)

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