Week 5 Conditions

Question 1

Loss of 10-30% conjugating ability by UDP glucuronosyltransferase, mild increase in unconjugated bilirubin. Mild

Answer 1

Gilbert’s Syndrome

Question 2

Absent UDP glucuronosyltransferase. Presents as jaundice, kernicterus, and high unconjugated bilirubin.

Answer 2

Crigler-Najjar syndrome type I.
Type II is slightly less severe

Question 3

Defective liver secretion leading to conjugated hyperbilirubinemia. Black liver grossly. Asymptomatic

Answer 3

Dubin-Johnson syndrome. Caused by mutation in MRP2 gene

Question 4

Impaired hepatic storage of conjugated bilirubin, leading to conjugated hyperbilirubinemia. Liver is not black. Autosomal recessive

Answer 4

Rotor syndrome

Question 5

Microcytic anemia with basophilic stippling and ringed sideroblasts. GI and kidney disease. Black gums. Buildup of protoporphyrin and ALA

Answer 5

Lead poisoning. Affects ferrochetalase and ALA dehydratase.

Question 6

5 P’s: painful abdomen, port wine pee, polyneuropathy, psychological disturbances, worse with increased ALA synthase activity (like CYP450 inducers). Buildup of porphobilinogen and ALA

Answer 6

Acute intermittent porphyria. Defect in porphobilinogen deaminase

Question 7

Blistering photosensitivity and hyperpigmentation. Exacerbated with alcohol consumption. Buildup of uroporphryin

Answer 7

Porphyria cutanea tarda. Defect in uroporphyrinogen decarboxylase

Question 8

Extreme photosensitivity. Buildup of protoporphyrin

Answer 8

Erythropoetic porphyria. Defect in ferrochetalase

Question 9

Low platelet aggregation, big platelets, increased bleeding time. Autosomal recessive defect in adhesion. Abnormal gpIb (vWF receptor) so platelets cannot adhere to vWF

Answer 9

Bernard-Soulier syndrome

Question 10

Abnormal GpIIb/IIIa (fibrinogen receptor) so platelets cannot aggregate. Normal platelet count, high bleeding time

Answer 10

Glanzmann thrombasthenia

Question 11

Lack of granules in platelets. Decreased platelet secretion and decreased secondary wave of platelet aggregation. Mild, lifelong bleeding

Answer 11

Platelet storage pool disease (subtype: gray platelet syndrome)

Question 12

Anti GpIIb/IIIa antibodies leading to phagocytosis of platelets in spleen. High megakaryocyctes on bone marrow biopsy, low platelet count

Answer 12

Immune thrombocytopenia (ITP)

Question 13

Low platelets, low Hb, presence of schistocytes, high LDH, acute kidney injury. Normal PT and PTT. vWF metalloprotease ADAMTS13 not working, increase in large vWF multimers

Answer 13

Thrombotic thrombocytopenia purpura

Question 14

Increased PTT, increased bleeding time, normal platelet count and PT. Mild but most common bleeding disorder

Answer 14

Von Willebrand disease: Low vWF leading to high PTT bc of low factor 8, and defect in platelet plug formation bc platelets can’t bind to vWF

Question 15

Low platelet count, increased bleeding, increased PT and PTT. Schistocytes, increase in fibrin degradation products (D dimers)

Answer 15

Disseminated intravascular coagulation: widespread clotting factor activation

Question 16

Increased PPT. Deficiency of factor VIII. X linked recessive

Answer 16

Hemophilia A (Ate=eight)

Question 17

Increased PTT. Deficiency of factor IX. X linked recessive

Answer 17

Hemophilia B

Question 18

Increased PTT, deficiency of factor XI, autosomal recessive

Answer 18

Hemophilia C

Question 19

General coagulation defect. High PT and PTT, low activity of factors 2,8,9,10, protein C and S

Answer 19

Vit K deficiency

Question 20

Mutant factor V that is resistant to degradation by protein C. Risk of DVT, recurrent pregnancy loss

Answer 20

Factor V Leiden