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Hereditary Thrombophilia Screening

  

It is suggested that General practitioners DO NOT request Thrombophilia screens without review of this guideline AND discussion with haematology.


About Hereditary Thrombophilia Screening

It is suggested that General practitioners DO NOT request Thrombophilia screens without review of this guideline AND discussion with haematology.

Requests for thrombophilia screening can be reviewed via online Advice and Guidance (A&G) service. A&G is available at Warwick (SWFT) and George Eliot Hospital.

Thrombophilia testing is rarely performed urgently so there is time to wait for a written response if A&G is not available.

Testing for Hereditary Thrombophilia Screening (code = TPS)

Includes:

  • Protein C
  • Protein S
  • Antithrombin levels
  • Prothrombin gene mutation (20210A)
  • ACPR ‘activated protein C resistance’ screening for Factor V Leiden (if abnormal DNA analysis for Factor V Leiden is performed).

PLEASE ADD AS MUCH CLINICAL INFORMATION AS POSSIBLE ON REQUEST FORM. IN THE ABSENCE OF CLINICAL INFORMATION ALL REQUESTS WILL BE REJECTED AND THE SAMPLE FROZEN PENDING FURTHER INFORMATION. (All samples that do not appear to fulfil criteria will be stored for 1 month, the requesting clinician is advised to discuss the case with Consultant Haematologist at UHCW if they feel the test is warranted)

Indications for Hereditary Thrombophilia Screening
  • Personal history of VTE / related problems
  • Neonates and children with purpura fulminans (urgent protein S and C – discuss with haematologist)
  • Patients with cerebral venous sinus thrombosis aged <60 years
  • History of warfarin induced skin necrosis (test after warfarin treatment withdrawn)
  • Women with a history of second trimester miscarriage, placental abruption, Intrauterine Growth Retardation (IUGR), unexplained stillbirth / intrauterine death
  • Antithrombin levels in patients with recurrent VTE while receiving heparin based anticoagulation
  • Consider testing Antithrombin levels in patients with unprovoked thrombosis in whom you plan to stop anticoagulation as a positive result ‘may’ influence risk of recurrence.  Please only test if this will affect management
Contraindications
  • Do not screen patients when a positive result will not affect management
  • Patients with unprovoked VTE in whom you are continuing anticoagulation
  • Do not screen for factor V leiden, Prothrombin gene mutation, protein C or S inunprovoked thrombosis. (‘Unprovoked’ means no recent history of surgery within the preceding 3 months, immobility, fracture, cancer,oestrogen therapy, pregnancy).
  • Provoked VTE
  • Retinal vein occlusion
  • Abdominal thromboses
  • Family screening
  • Women planning pregnancy with a family history of VTE at a young age (<40years) in at least 1 first degree relative OR family history of known thrombophilic defect – please only test if it will affect management
  • Women planning use of HRT with a strong family history of VTE (1 or more 1st degree relatives) should be discussed with a haematology consultant with an interest in thrombosis and haemostasis prior to testing (11)
Do not screen patients when a positive result will not affect management:
  • Women planning use of combined oral contraceptive pill with a family history of VTE <45 – screening is not recommended as COCP is not recommended on history alone
  • Women planning use of COCP with a family member with VTE and known thrombophilia – COCP is not recommended (a negative thrombophilia test in this clinical situation does not exclude an increased risk of thrombosis
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