Morphology and progression of primary varicose veins: Importance of genetic variants of methylenetetrahydrofolate reductase (MTHFR) [Morphologie und Progression der primären Varikose: Die Bedeutung genetischer Varianten der Methylentetrahydrofolatreduktase (MTHFR)]

Background: Primary varicose vein disease should be treated by stage-adjusted therapy in order to prevent possible complications. The pathogenesis of primary varicose vein disease is still unknown. Objectives: An obvious heritability stresses the need for a genetic distinction between potential sources of axial reflux as well as of complicated disease. Results: Examination of blood and tissue specimens from 116 patients with primary varicose veins as well as from 36 controls yielded a significant association of two common polymorphisms of the MTHFR gene with two principal morphological phenotypes, c.677C>T with trunk type and junctional incompetence (p < 0.01) and c.1298A>C with perforator type with and without axial reflux (p < 0.01). A significant association of the c.1298A>C mutation with progression towards complicated disease grades C3–6 according to the CEAP classification was detected (p < 0.01). Recent results from 52 extremities of 34 patients suggest a significantly greater diameter of perforator veins observed in cases of CEAP C3–6 compared with C2 (p = 0.02). Conclusions: The results support a classification of primary varicose veins according to functional reflux, a selective elimination of relevant insufficiency factors and raise the question of prophylactic genetic testing. © 2015, Springer-Verlag Berlin Heidelberg.