Von Willebrand Disease — MFDS Part 1 MCQ

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ModerateHuman DiseaseVon Willebrand DiseaseMFDS Part 1

A 24-year-old woman reports recurrent epistaxis, heavy menstrual bleeding and prolonged oozing after a previous dental extraction. Her mother has experienced similar symptoms. Her platelet count, prothrombin time and activated partial thromboplastin time are normal. Which haematological condition is the most likely diagnosis?

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Correct answer: C — Von Willebrand disease

Explanation lettering: D = shown as A · E = shown as B · A = shown as C · B = shown as D · C = shown as E

The correct answer is **A, von Willebrand disease**. The recurrent mucocutaneous bleeding, heavy menstrual bleeding, prolonged bleeding after dental extraction and affected female relative are characteristic. Mild von Willebrand disease commonly has a normal platelet count, PT and APTT because routine screening tests do not reliably detect impaired von Willebrand factor-mediated platelet adhesion. Haemophilia A and B are X-linked factor deficiencies that predominantly affect males, typically cause deep-tissue or joint bleeding and usually prolong the APTT. Thrombocytopenia can cause mucocutaneous bleeding but would, by definition, produce a reduced platelet count. Disseminated intravascular coagulation is an acute acquired consumptive coagulopathy, usually associated with systemic illness, thrombocytopenia and prolonged coagulation tests.

Reference: NHS Genomics Education Programme. Von Willebrand disease, Key facts, Clinical features and Diagnosis sections. 2020. https://www.genomicseducation.hee.nhs.uk/documents/von-willebrand-disease/