Primary antiphospholipid syndrome in combination with heterozygous mutation in prothrombin (G20210A) gene: a case report

• Published in: Klinicheskaia meditsina Vol. 80; no. 10; p. 66
• Main Authors: Tikhonova, T L, Kovalenko, T F, Patrushev, L I, Mach, E S, Reshetniak, T M
• Format: Journal Article
• Language: Russian
• Published: Russia (Federation) 2002
• Subjects: Antiphospholipid Syndrome - complications; Antiphospholipid Syndrome - genetics; Factor V - genetics; Heterozygote; Humans; Male; Middle Aged; Mutation; Prothrombin - genetics
• ISSN: 0023-2149

A 47-year-old man had residual effects of acute disorders of cerebral circulation in the territory of the median cerebral artery. Computer tomography confirmed the presence of the postischemic focus in the area of the head of the caudate nucleus. Also, thrombosis of small branches of the coronary arteries with development of postinfarction cardiosclerosis and arrhythmia, thrombosis of deep veins in the left leg gave grounds for verification of primary antiphospholipid syndrome (PAS). The diagnosis was serologically confirmed by the presence of anticardiolipin antibodies and the presence of lupus anticoagulant. A genetic examination detected heterozygous mutation G20210A in prothrombin gene but failed to identify G1691A (Leiden) mutation in gene of factor V and C677T in gene 5,10-methylentetrahydrofolatreductase. A family history was collected. Thrombotic complications were found in grandmother and aunt (by mother), in sister and brother. The latter had also a heterozygous mutation of prothrombin gene. Genetic mutations in PAS patients are an additional risk factor of recurrent thrombosis.