Peter MacCallum senior lecturer in haematology, Louise Bowles consultant haematologist, David Keeling consultant haematologist
MacCallum P, Bowles L, Keeling D.
Diagnosis and management of heritable thrombophilias
BMJ 2014; 349 :g4387
doi:10.1136/bmj.g4387
Re: Diagnosis and management of heritable thrombophilias
From an ocular point of view it should be noted that Rehak et al. 2008* found in their Meta-analysis that "the prevalence of APC-resistance and factor V Leiden is significantly higher in patients with retinal vein occlusion without general risk factors". If we interpret a retinal vein occlusion (RVO) as a first unprovoked episode of VTE then this would tie in with MacCallum's observation that 20% of the latter are heterozygous carriers of factor V Leiden (FVL). Considering pre-test probability I would therefore concord with Rehak et al that screening of RVO-patients younger than 50 years of age is prudent. The key point - that all too often remains unanswered - is how FVL-positive RVO-patients should be managed from a systemic point of view, i.e. should they be anti-coagulated and if yes what is the best agent?
*Rehak M, Rehak J, Muller M, Faude S, Faude F, Siegemund A, et al. The prevalence of activated protein C (APC) resistance and factor V Leiden is significantly higher in patients with retinal vein occlusion without general risk factors. Case-control study and meta-analysis. Thrombosis and Haemostasis 2008 May;99(5):925-9.
Competing interests: No competing interests