FRCPath Haem Part 1 EMQs-Haemostasis 61

Theme: Inherited Platelet Disorders

A. May–Hegglin anomaly

B. Sebastian syndrome

C. Fechtner syndrome

D. Epstein syndrome

E. Eckstein syndrome

F. Bernard–Soulier syndrome

G. Grey platelet syndrome

H. Giant platelet syndrome with velocardiofacial syndrome (22q11.2 deletion)

Questions (Select ONE best option for each scenario):

Q1.

A 24-year-old man is incidentally found to have thrombocytopenia on routine blood tests. Blood film shows giant platelets and Döhle-like leukocyte inclusions. Platelet function is otherwise normal. Genetic testing reveals an MYH9 mutation.

Q2.

A 19-year-old woman presents with hearing loss, cataracts, and proteinuria. Blood film shows granulocyte inclusions similar to those seen in Sebastian syndrome. Platelet count is low but function is near normal.

Q3.

A 32-year-old man has lifelong mild thrombocytopenia, nephritis, and progressive sensorineural deafness. Blood film shows Döhle-like bodies and giant platelets. Platelet aggregation studies are normal.

Q4.

A 27-year-old woman presents with bleeding gums and menorrhagia. Platelet aggregation studies show defective adhesion to von Willebrand factor. Platelets are large and dysfunctional. No leukocyte inclusions are seen.

Q5.

A 15-year-old boy has recurrent epistaxis and easy bruising. Blood film shows absence of alpha granules giving platelets a pale appearance. Platelet count is mildly reduced.

Q6.

A newborn is noted to have cyanotic congenital heart disease, hypocalcaemia, and facial dysmorphism. Platelets are large with reduced glycoprotein Ib/IX expression.

Q7.

A 40-year-old man presents with thrombocytopenia and nephritis. Blood film shows MYH9-related giant platelets, leukocyte inclusions, and cataracts. Unlike Sebastian syndrome, granulocyte inclusions are distinct in morphology.

Q8.

A 10-year-old child has mild bleeding symptoms. Blood film shows large platelets but no leukocyte inclusions. Platelet function is near normal. There is a family history of autosomal dominant thrombocytopenia.