FRCPath Haem Part 1 EMQs- Haemostasis 88 and 89

Theme: Inherited and Acquired Platelet Function Disorders

Options

A. Bernard–Soulier syndrome

B. Glanzmann thrombasthenia

C. Scott syndrome

D. Wiskott–Aldrich syndrome

E. Hermansky–Pudlak syndrome

F. Chediak–Higashi syndrome

G. Gray platelet syndrome

H. Paris–Trousseau syndrome

I. Aspirin-induced platelet dysfunction

J. BTK inhibitor-associated platelet dysfunction

K. SSRI-induced platelet dysfunction

L. Platelet dysfunction secondary to paraproteinaemia

M. Platelet dysfunction due to myelodysplastic syndrome

N. Platelet dysfunction due to acute leukaemia

Questions

Scenario 1

A 14-year-old boy presents with lifelong epistaxis and gum bleeding. Platelet count is 40 × 10⁹/L. Blood film demonstrates very large platelets. Platelet aggregation studies show normal aggregation responses but markedly reduced ristocetin-induced agglutination that fails to correct with patient plasma.

Which diagnosis is most likely?

Scenario 2

A 7-year-old child has severe mucocutaneous bleeding since infancy. Platelet count is normal. Aggregation studies demonstrate absent responses to ADP, collagen and adrenaline, but normal response to ristocetin.

Which diagnosis is most likely?

Scenario 3

A 21-year-old woman has excessive bleeding after dental extraction despite normal platelet count and normal aggregation studies. Flow cytometry demonstrates failure of activated platelets to externalize phosphatidylserine.

Which diagnosis is most likely?

Scenario 4

A 5-year-old boy is referred with recurrent bacterial infections, severe eczema and thrombocytopenia. Blood film reveals unusually small platelets.

Which diagnosis is most likely?

Scenario 5

A young adult presents with easy bruising and recurrent epistaxis. Examination reveals oculocutaneous albinism. Platelet electron microscopy demonstrates absence of dense granules.

Which diagnosis is most likely?

Scenario 6

A child develops recurrent pyogenic infections and partial albinism. Peripheral blood film shows giant cytoplasmic granules in neutrophils. Platelet dysfunction contributes to a bleeding tendency.

Which diagnosis is most likely?

Scenario 7

A 32-year-old woman has lifelong bruising and menorrhagia. Platelet count is mildly reduced. Blood film demonstrates large pale-gray appearing platelets lacking normal granularity.

Which diagnosis is most likely?

Scenario 8

A neonate with developmental delay and congenital anomalies develops thrombocytopenia. Blood film demonstrates giant platelets with abnormal α-granule morphology.

Which diagnosis is most likely?

Scenario 9

A 74-year-old man with Waldenström macroglobulinaemia develops spontaneous bruising. Platelet count is normal. Aggregation studies demonstrate impaired platelet function due to circulating IgM paraprotein coating platelet membranes.

Which diagnosis is most likely?

Scenario 10

A 68-year-old man with chronic lymphocytic leukaemia is receiving treatment with ibrutinib. He develops troublesome epistaxis and bruising despite a normal platelet count. Coagulation studies are normal.

Which diagnosis is most likely?