Purpose The diagnosis of uveitis prompts investigation into a long list of infectious, systemic autoimmune, and primary ocular conditions. Familial and acquired thrombophilia are rarely considered in the assessment of the pathoetiology of uveitis. We assessed three patients with uveitis who were referred to a thrombosis center by their retinologists-ophthalmologists after the search for an etiology among the common causes of uveitis did not yield a diagnosis, who were subsequently found to have familial thrombophilia and extra-ocular thrombotic events.
Methods We prospectively measured familial and acquired thrombophilias in 3 patients, along with a thorough review of other known etiologies for uveitis.
Results Of the three patients, one experienced 3 recurrent unexplained first trimester miscarriages and was found to have familial thrombophilia (high factor VIII, 158%, UNL 150%, and factor XI, 168%, UNL 150%) and familial hypofibrinolysis with 4G/4G homozygosity of the plasminogen activator inhibitor type 1 (PAI-1) gene. Enoxaparin, 40 mg twice/day was started at inception of her 4th pregnancy, which is now at 20 weeks gestation. The second patient developed deep venous thrombosis in both legs with pulmonary emboli, and 2 months later, was diagnosed with uveitis. She was found to have familial protein C deficiency (30%, laboratory lower normal limit 60%) and antiphospholipid syndrome. The third patient, whose son had an ischemic stroke at 1 month of age, was found to have thrombophilic compound heterozygous mutations in the methylenetetrahydrofolate reductase (MTHFR) gene as well as hypofibrinolytic 4G4G homozygosity in the PAI-1 gene.
Conclusion When the usual pathoetiologies of uveitis are not found, ophthalmologists should screen for thrombophilia, often being the first to illuminate treatable etiologies for other thrombotic events. In our 3 patients, when the pathoetiology of uveitis could not be discerned, screening for familial and acquired thrombophilia had important therapeutic ramifications in the probands and their first degree relatives. .
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