Favorites 2

Question 1

Sideroblastic anemia

Answer 1

ringed sideroblasts, B6 deficiency, alcohol, isoniazid

Question 2

Aplastic anemia

Answer 2

pancytopenia, hypocellular marrow, no splenomegaly

Question 3

Paroxysmal nocturnal hemoglobinuria (PNH)

Answer 3

CD55/59 deficiency, complement-mediated lysis

Question 4

Fanconi anemia

Answer 4

DNA repair defect, thumb/radial abnormalities, aplastic anemia

Question 5

Hereditary spherocytosis

Answer 5

↑ MCHC, osmotic fragility, splenectomy

Question 6

HUS vs. TTP

Answer 6

ADAMTS13, schistocytes, ↑ LDH, ↓ platelets

Question 7

ITP

Answer 7

antiplatelet antibodies, isolated thrombocytopenia

Question 8

Bernard-Soulier

Answer 8

GpIb defect, large platelets

Question 9

Glanzmann thrombasthenia

Answer 9

GpIIb/IIIa defect, no platelet aggregation

Question 10

Heparin-induced thrombocytopenia (HIT)

Answer 10

anti-PF4 antibodies

Question 11

Warfarin

Answer 11

inhibits epoxide reductase, affects II, VII, IX, X

Question 12

Heparin

Answer 12

activates antithrombin III, blocks thrombin & Xa

Question 13

Factor V Leiden

Answer 13

Resistant to protein C inactivation

Question 14

Vitamin K deficiency

Answer 14

↓ factors II, VII, IX, X, protein C & S

Question 15

Auer rods

Answer 15

AML (especially M3)

Question 16

t(15;17)

Answer 16

APL → treat with ATRA

Question 17

Philadelphia chromosome (t(9;22))

Answer 17

CML → treat with imatinib

Question 18

Reed-Sternberg cells

Answer 18

Hodgkin lymphoma

Question 19

Burkitt lymphoma

Answer 19

t(8;14), starry sky, EBV

Question 20

Follicular lymphoma

Answer 20

t(14;18), BCL-2

Question 21

Mantle cell lymphoma

Answer 21

t(11;14), cyclin D1

Question 22

Multiple myeloma

Answer 22

CRAB (Ca²⁺ ↑, Renal, Anemia, Bone lesions)

Question 23

MGUS (monoclonal gammapathy of unknown significance)

Answer 23

benign M spike, no CRAB
(hyperCalcemia, Renal insufficiency, Anemia, Bones lytic lesions)

Question 24

Waldenström macroglobulinemia

Answer 24

IgM spike + hyperviscosity

Question 25

Myelofibrosis

Answer 25

“teardrop cells,” dry tap marrow

Question 26

Langerhans cell histiocytosis

Answer 26

Birbeck granules ("tennis racket")

Question 27

Lesch-Nyhan syndrome

Answer 27

HGPRT deficiency, self-mutilation

Question 28

Orotic aciduria

Answer 28

megaloblastic anemia + orotic acid + no hyperammonemia

Question 29

Ornithine transcarbamylase deficiency (OTC)

Answer 29

hyperammonemia + ↑ orotic acid

Question 30

Homocystinuria

Answer 30

Marfanoid + thrombosis + lens dislocation (downward)

Question 31

Alkaptonuria

Answer 31

dark urine, ochronosis, arthropathy

Question 32

Maple syrup urine disease

Answer 32

BCAA defect, sweet smell

Question 33

Phenylketonuria (PKU)

Answer 33

musty odor, ↓ phenylalanine hydroxylase

Question 34

Tyrosinemia

Answer 34

liver failure + cabbage odor

Question 35

Glycogen storage diseases

Answer 35

Von Gierke, Pompe, Cori, McArdle

Question 36

Hurler vs. Hunter syndrome

Answer 36

coarse facies, corneal clouding (Hurler only)

Question 37

Tay-Sachs vs. Niemann-Pick

Answer 37

cherry-red spot; Niemann-Pick has hepatosplenomegaly

Question 38

Gaucher disease

Answer 38

lipid-laden macrophages ("crumpled tissue paper")

Question 39

Fabry disease

Answer 39

angiokeratomas, acroparesthesia, ↓ α-galactosidase A

Question 40

Krabbe disease

Answer 40

peripheral neuropathy, optic atrophy, globoid cells

Question 41

Metachromatic leukodystrophy

Answer 41

arylsulfatase A deficiency, demyelination

Question 42

X-linked adrenoleukodystrophy →

Answer 42

VLCFA accumulation

Question 43

Wernicke-Korsakoff syndrome

Answer 43

thiamine deficiency, mammillary body damage

Question 44

Refsum disease

Answer 44

phytanic acid buildup, cerebellar signs + ichthyosis

Question 45

Zellweger syndrome

Answer 45

peroxisome biogenesis defect, hypotonia, seizures

Question 46

Abetalipoproteinemia

Answer 46

↓ ApoB, fat malabsorption, acanthocytes

Question 47

Cystic fibrosis →

Answer 47

CFTR (ΔF508), salty sweat, meconium ileus

Question 48

Phenylethanolamine N-methyltransferase (PNMT)

Answer 48

converts NE → Epi (needs SAM)

Question 49

MAO inhibitors

Answer 49

hypertensive crisis with tyramine