Frequency of hereditary prothrombotic risk factors in patients with Down Syndrome

Abstract

Objective: Down Syndrome (DS) is defined as chromosome 21 trisomy and associated with cardiovascular system diseases. We aimed to study inherited thrombophilia genes (MTHFR A1298C, MTHFR C677T, Factor II G20210A, Factor V Leiden G1691A, Factor V Cambridge G1091C, Factor XIII, APOB, ITGB3, FVHR2, FGB, PAI-1 and ACE) in patients with DS. Materials and Methods: A total of 53 patients with DS (32 male and 21 female) were included in the study. Demographical, laboratory and clinical features of cases were recorded. 12-lead Electrocardiogram (ECG), transthoracic echocardiography and the inherited thrombophilia genes were evaluated. Results: The clinical and developmental defect findings of the patients were high. The 39.6% of patients had both heterozygous MTHFR C677T and heterozygous MTHFR A1298C carriers, the 18.9% of patients had homozygous MTHFR A1298C carriers, the 17% of patients had heterozygous Factor V Leiden G1691A carriers, the 43.4% of patients had 4G/4G carriers, the 34% of patients had 4G/5G variation carriers for PAI, the 22.7% of patients had heterozygous FactorXIII carriers, the 49.1% of patients had ins/del carriers and the 37.7% of patients had del/del variation carriers for ACE. All patients had at least one of the homozygous and/or compound heterozygous variations for the inherited thrombophilia. Conclusions: The patients with DS have a high risk for thrombosis-related cardiovascular system diseases. It may be said that the average life expectancy of individuals with DS may be increased by precautions (related to medical, social, lifestyle, etc.) to reduce complications associated with hereditary thrombophilia.