Is thrombophilia a major risk factor for deep vein thrombosis of the lower extremities among Lebanese patients?

R Kreidy1, N Irani-Hakime21Department of Vascular Surgery, 2Department of Laboratory Medicine, Saint George Hospital, University Medical Center, University of Balamand, Beirut, LebanonAim: Factor V Leiden (R506Q) mutation is the most commonly observed inherited genetic abnormality related to vein thrombosis. Lebanon has one of the highest frequencies of this mutation in the world with a prevalence of 14.4% in the general population. The aim of this study is to define risk factors including inherited genetic abnormalities among Lebanese patients with lower extremity deep vein thrombosis. We report the clinical outcome of patients with thrombophilia.Methods: From January 1998 to January 2008, 162 patients (61 males and 101 females) were diagnosed with lower extremity deep vein thrombosis. Mean age was 61 years (range: 21 to 95 years).Results: The most frequent risk factors for vein thrombosis were surgery, advanced age, obesity, and cancer. Twenty-five patients had thrombophilia, 16 patients had factor V Leiden (R506Q) mutation, and seven patients had MTHFR C677T mutation. Ninety-two percent of patients screened for thrombophilia were positive. Screening was requested in young patients (16), patients with recurrent (11), spontaneous (8), and extensive (5) venous thrombosis, familial history (5), pregnancy (4), estroprogestative treatment (3), and air travel (1). Nine patients had one, 11 patients had two, and five had three of these conditions. Follow-up (6 to 120 months) of these 25 patients treated with antivitamin K did not reveal recurrences or complications related to venous thromboembolism.Conclusion: Factor V Leiden mutation followed by MTHFR mutation are the most commonly observed genetic abnormalities in these series. Defining risk factors and screening for thrombophilia when indicated reduce recurrence rate and complications. Recommendations for thrombophilia screening will be proposed.Keywords: venous thrombosis, risk factors, genetics, factor V Leiden, prothrombin G20210A, MTHFR C677

Vasculopatia livedoide: uma doença cutânea intrigante Livedoid vasculopathy: an intringuing cutaneous disease

A vasculopatia livedoide é uma afecção cutânea oclusiva dos vasos sanguíneos da derme, de caráter pauci-inflamatório ou não-inflamatório. Caracteriza-se pela presença de lesões maculosas ou papulosas, eritêmato-purpúricas, nas pernas, especialmente nos tornozelos e pés, as quais produzem ulcerações intensamente dolorosas, que originam cicatrizes atróficas esbranquiçadas, denominadas "atrofia branca". Nesta revisão, abordamos os estudos e relatos de caso da literatura médica referentes às associações etiopatogênicas da doença, particularmente as que se referem aos estados de trombofilia, seus achados histopatológicos e abordagens terapêuticas empregadas na difícil condução clínica destes casos.<br>Livedoid vasculopathy is a skin disease that occludes the blood vessels of the dermis. It has a pauciinflammatory or non-inflammatory nature. It is characterized by the presence of macular or papular, erythematous-purpuric lesions affecting the legs, especially the ankles and feet, and producing intensely painful ulcerations, which cause white atrophic scars called "atrophie blanche". This review includes studies and case reports found in the medical literature regarding the etiopathogenic associations of the disease, particularly those related to thrombophilia, their histopathological findings and the therapeutic approaches used in the difficult clinical management of these cases