top of page
Search

FRCPath Haem Part 1 EMQs- Haemostasis 03




Theme: Inherited thrombophilia


Options

A. Test for inherited thrombophilia

B. Do not test – results will not influence management

C. Test only if results will alter pregnancy management

D. Test for specific deficiency (Protein C/S)

E. Advise against oestrogen-containing therapy and testing

F. Defer testing until off anticoagulation

G. Test asymptomatic first-degree relatives selectively

H. Do not test – patient already in high-risk group

I. Test for antiphospholipid syndrome only

J. No inherited thrombophilia testing; investigate alternative causes


Questions


Q1

A 34-year-old woman presents with a first episode of unprovoked proximal DVT. She is on long term anticoagulation and remains well. Her mother had a DVT at age 68 following surgery, and there is no other family history of thrombosis. She is keen to stop anticoagulation. Answer:


Q2

A 27-year-old woman, currently 9 weeks pregnant, is referred for thrombosis risk assessment. She is asymptomatic but reports that her brother had a pulmonary embolism at age 29 and was subsequently diagnosed with antithrombin deficiency. She has never been tested, and obstetric team has contacted you for this. Answer:


Q3

A 5-year-old child presents with rapidly progressive purpuric skin lesions, disseminated intravascular coagulation, and skin necrosis following a viral illness. There is no significant past medical history, but a sibling died in infancy with a similar presentation of unexplained coagulopathy. Answer:


Q4

A 36-year-old woman seeks contraceptive advice. She is otherwise well but reports a strong family history of venous thromboembolism: her father and two siblings all had unprovoked VTE before the age of 40. None of them have undergone thrombophilia testing. She is particularly keen to use the combined oral contraceptive pill for cycle control. Answer:


Q5

A 42-year-old man presents with abdominal pain and is found to have portal vein thrombosis on imaging. There are no clear provoking factors such as cirrhosis, malignancy, or recent surgery. Inherited thrombophilia screening is requested by the admitting team. Answer:

 
 
 

1 Comment

adwaanhemay
10 minutes ago

Answers & Explanations


Q1 → B. Do not test – results will not influence management

  • Decision to stop anticoagulation depends on:

    • Provoked vs unprovoked event (Unprovoked events need lifelong anticoagulation)

    • Bleeding risk

  • Thrombophilia testing does not meaningfully refine recurrence risk here


Q2 → C. Test only if results will alter pregnancy management

  • First-degree relative with high-risk thrombophilia (AT deficiency)

  • Positive result → ↑ LMWH intensity / closer monitoring

  • This is one of the few pregnancy scenarios where testing matters


Q3 → D. Test for specific deficiency (Protein C/S)

  • Classic purpura fulminans → severe Protein C deficiency

  • Strong family history reinforces inherited severe deficiency


Q4 → E. Advise against oestrogen-containing therapy and testing

  • Strong FH alone = contraindication

  • Negative test would…


Like
bottom of page