FRCPath Haem Part 1 EMQs-Haemostasis 513

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

Options

A. Do not perform inherited thrombophilia testing; advise alternative contraception.

B. Do not perform inherited thrombophilia testing because the site of thrombosis is not an indication for routine testing.

C. Do not perform inherited thrombophilia testing because the result is unlikely to alter clinical management.

D. Consider selective thrombophilia testing  if it will change management.

E. Do not perform inherited thrombophilia testing because family history alone is insufficient to justify screening.

Clinical scenarios

Question 1

A 34-year-old woman presents with sudden painless loss of vision in her right eye. Ophthalmological assessment confirms central retinal vein occlusion. She has no previous history of venous thromboembolism (VTE), and there is no significant family history of thrombosis. Her full blood count, renal function and liver function are normal.

Which is the most appropriate approach regarding inherited thrombophilia testing?

Question 2

A 26-year-old woman presents with swelling and discomfort of her left upper limb. Doppler ultrasound confirms an axillary and subclavian vein thrombosis. She has no previous history of VTE and no known family history of thrombophilia. She is otherwise well, with no evidence of malignancy or an underlying systemic disorder.

Which is the most appropriate approach regarding inherited thrombophilia testing?

Question 3

A 23-year-old woman attends her GP requesting combined oral contraceptive pills (COCP). Her mother experienced a proximal lower limb DVT at the age of 42 years following a long-haul flight. Her mother has never undergone thrombophilia testing. The patient herself has never experienced thrombosis.

What is the most appropriate advice regarding thrombophilia testing and contraception?

Question 4

A 29-year-old woman wishes to start COCP. Her sister developed an unprovoked pulmonary embolism at the age of 31 years. The sister underwent an inherited thrombophilia screen, which was reported as negative. The patient has no personal history of thrombosis.

What is the most appropriate approach?

Question 5

A 25-year-old woman requests COCP. Her father experienced an unprovoked pulmonary embolism at the age of 38 years and was subsequently diagnosed with hereditary antithrombin deficiency. The patient has never experienced VTE and is otherwise well.

Which is the most appropriate approach regarding contraception and thrombophilia testing?