Influence of genetic and environmental factors in peripheral arterial disease natural history: analysis from six years follow up

Background : Peripheral arterial disease (PAD) is a disease affecting million of patients worldwide. Though traditional cardiovascular risk factors have been associated with the development of PAD, the possible existence of an inherited genetic predisposition to PAD has been investigated in few familial aggregation studies. A link between genetics and PAD may open new avenues for the prevention of this morbid and mortal disorder. Aim : The aim of this study is to investigate a possible role of some genetic determinant involving into coagulation and homocysteine metabolism in the progression of PAD. Materials and Methods: We follow one-hundred patients affected by PAD for six years. We evaluated Ankle-Brachial Index (ABI) two times; first at the time of recruitment and then after six years, in order to assess the progression of disease. Genotypes for the genes of Factor V Leiden, Prothrombin or Factor II G20210A, Cystathionine Beta-Synthase 844ins68bp and Methylenetetrahydrofolate Reductase C677T was ascertained after taking blood samples. Chi-square test was performed to determinate the possible correlation of these genes and the most common environmental factors in the progression of PAD. Results: Genetic disorders resulting in high level of homocysteina or thrombophilic phenotype are not so frequent. None among the genetic factors we considered were correlated with PAD. Conclusion: PAD is a chronic disease whose course can be slowed down especially with the control of environmental risk factors. Genetic analyses are not useful to determine the disease progression or its tendency to remain stable.