CONGRESS 2023 - Thrombophilia Guideline Update

Thrombophilia is defined as hereditary and/or acquired conditions associated with an increased predisposition to thrombosis. The previous British Society for Haematology guideline on thrombophilia testing (2012) focused only heritable thrombophilia testing. The updated guideline published in 2022 (1) has a widened scope to include both heritable and acquired thrombophilia especially antiphospholipid antibodies, paroxysmal nocturnal haemoglobinuria, myeloproliferative neoplasm (MPN) and the presence of a JAK2 mutation in the absence of an MPN phenotype. Disorders such as cancer, inflammatory conditions and obesity are associated with thrombosis through multiple mechanisms, but these are not included in the guideline which focuses only the factors identified from laboratory testing. The key principle in the guideline is that when clinical utility of testing is not clear, thrombophilia testing is not mandatory, and testing should be done only if the result will alter the management of the patient. These guidelines emphasise the importance of identifying antiphospholipid syndrome and JAK2 +/- MPN phenotype because they have a significant impact on management. The guidelines confirm the limited utility of testing for hereditary thrombophilia testing in venous thromboembolism, arterial thrombosis and recurrent pregnancy loss. 1. Arachchillage, DJ, Mackillop, L, Chandratheva, A, Motawani, J, MacCallum, P, Laffan, M. Thrombophilia testing: A British Society for Haematology guideline. Br J Haematol. 2022; 198: 443– 458. https://doi.org/10.1111/bjh.18239

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