FRCPath Haem Part 1 EMQs- Haemostasis 04

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 or Antithrombin)

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

Instructions:

• For each scenario, choose the single most appropriate next step in management.

• Each option may be used once, more than once, or not at all.

Each Questions

Q1

A 30-year-old woman is referred to the haematology clinic following three consecutive first-trimester miscarriages. She has no personal or family history of thrombosis. Her GP has requested a “full thrombophilia screen” including Protein C, Protein S, antithrombin, Factor V Leiden, and prothrombin gene mutation. Answer:

Q2

A 31-year-old asymptomatic man attends clinic because his sister was recently diagnosed with Protein S deficiency after an unprovoked DVT. There is no other family history of thrombosis. He wants to know whether testing would be useful for him, particularly in relation to long-haul travel and future surgery. Answer:

Q3

A 29-year-old woman is currently 20 weeks pregnant. She has a history of a previous unprovoked proximal DVT at age 25 and is already receiving prophylactic low molecular weight heparin. Her obstetrician queries whether thrombophilia testing should now be performed to refine her risk stratification for the remainder of pregnancy. Answer:

Q4

A 28-year-old woman is considering starting hormone replacement therapy for premature ovarian insufficiency. Her mother had a DVT at age 52 and was tested for thrombophilia with negative results. The patient asks whether she should undergo thrombophilia testing before starting HRT to ensure it is safe. Answer:

Q5

A 39-year-old man with a history of two unprovoked venous thromboembolic events is maintained on indefinite anticoagulation. He has never had thrombophilia testing. He asks whether testing should be performed now to better understand the cause of his condition. Answer: