When should I consider referring a patient for specialist assessment of thrombophilia?

You should consider referring a patient for specialist assessment of thrombophilia in specific circumstances, primarily related to unprovoked venous thromboembolism (VTE) or in the context of pre-conception planning ²,³,⁴. Key considerations for referral or testing include:

• Unprovoked Deep Vein Thrombosis (DVT) or Pulmonary Embolism (PE):
  • Consider testing for antiphospholipid antibodies if it is planned to stop anticoagulation treatment ³,⁴. Be aware that these tests can be affected by anticoagulants, and specialist advice may be needed ⁴.
  • Consider testing for hereditary thrombophilia if the patient has unprovoked DVT or PE and a first-degree relative who has had DVT or PE, *and* it is planned to stop anticoagulation treatment ³,⁴. Specialist advice may be needed as tests can be affected by anticoagulants ⁴.
• Pre-conception and Pregnancy:
  • Seek specialist advice for women who have an abnormal thrombophilia screen ².
  • For women with a history of DVT or PE, specialist advice is required ². The Royal College of Obstetricians and Gynaecologists (RCOG) guideline recommends thrombophilia testing for certain groups of women with previous VTE, with interpretation of results by clinicians with expertise in the area ². Pre-pregnancy counselling should be offered to women with a history of VTE to formulate a management plan for thromboprophylaxis in pregnancy, which involves collaboration with a haematologist with expertise in thrombosis in pregnancy ².

When thrombophilia testing is generally not recommended:

• Superficial Vein Thrombosis (SVT): Investigation for underlying thrombophilia is not routinely indicated ¹. There is no evidence to suggest that the presence of thrombophilia alters the management of SVT or influences recurrence or progression rates ¹.
• Provoked DVT or PE: Do not offer thrombophilia testing to people who have had provoked DVT or PE ⁴.
• Continuing Anticoagulation: Do not offer testing for hereditary thrombophilia to people who are continuing anticoagulation treatment ⁴. If a person is continuing on anticoagulation treatment for other reasons, testing is not required as it will not alter management ³.
• First-degree Relatives: Do not routinely offer thrombophilia testing to first-degree relatives of people with a history of DVT or PE and thrombophilia ⁴.