Role of hyperhomocystinemia in retinal vascular occlusive disease.

Elevated plasma homocysteine (Hcy) level is considered a risk factor for vascular diseases. In recent years, many scientific reports have suggested that hyperhomocystinemia may be associated with an increased risk of retinal vascular occlusive disease (RVOD). The prevalence of elevation of homocysteine in patients with a recent retinal vascular occlusion was compared to a health control group in this study. Forty-nine consecutive patients (22 M; 27 F) (age 26-85 years, mean 69) with diagnosis of retinal vascular occlusion were compared with 71 healthy controls. These patients underwent laboratory evaluation for plasma fasting total homocysteine, activated protein C resistance, protein C, protein S, antithrombin III, and antiphospholipid and anticardiolipin antibodies. The G20210 prothrombin gene mutation (FII G20210A) and Factor V Leiden mutation (FVL) were evaluated. None of these enrolled subjects had other prothrombic risk factors. The health control group consisted of healthy subjects from the general population, with no history or clinical evidence of retinal vascular disease, recruited during the same 2-year period. High fasting homocystinemia (higher than 15 mumol/L) was detected in 24/49 subjects (48.9%) (P < .0005). There was a high prevalence of hyperhomocystinemia: these data suggest an association between RVOD and high fasting homocystinemia. Elevated homocysteine may be an independent risk factor, and its assessment may be important in the investigation, management, and follow-up of patients with RVOD. Further controlled studies are necessary to clarify the exact role of hyperhomocystinemia in RVOD and to evaluate the appropriate therapeutic approach.

Genetic prothrombotic risk factors in women with unexplained pregnancy loss.

INTRODUCTION: Inherited thrombophilia has been associated with unexplained recurrent pregnancy loss (RPL) and stillbirth. This thrombotic tendency can manifest as thrombotic lesions in the placenta, and may lead to abortion and stillbirth. The aim of our case-control study was to investigate the prevalence of FVL and FII G20210A in women with adverse pregnancy outcome, compared to the prevalence of the same mutations in our health control group. MATERIALS AND METHODS: 102 consecutive women with unexplained pregnancy loss (55 with history of RPL, and 47 with history of stillbirth) were studied for hereditary thrombophilia. The health control group consisted of 217 healthy women from the general population. RESULTS AND CONCLUSIONS: Of the 55 women with recurrent abortions, we found the same prevalence for the FVL and the FII G20210A(9.1%, 5 pts). (p=NS compared to control group). Of the 47 women with stillbirth, 11 (23.4%) had the FVL and 9 (19.1%) had the FII G20210A(p<0.0005 for both mutations). In our experience the prevalence of FVL and the FII G20210Amutations was significantly higher in women with unexplained stillbirth, instead the prevalence of genetic thrombophilia was high but not statistically significant in women with recurrent pregnancy loss.