Hyperhomocysteinemia and other inherited prothrombotic conditions in young adults with a history of ischemic stroke

• Published in: Stroke (1970) 2002, Vol.33 (1), p.51-56
• Main Authors: MADONNA, Pasquale, DE STEFANO, Valentino, COPPOLA, Antonio, CIRILLO, Ferdinando, CERBONE, Anna Maria, OREFICE, Giuseppe, DI MINNO, Giovanni
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Brain Ischemia - diagnosis; Brain Ischemia - etiology; Brain Ischemia - genetics; Factor V - genetics; Female; Genetic Predisposition to Disease; Genotype; Homocysteine - blood; Humans; Hyperhomocysteinemia - blood; Hyperhomocysteinemia - complications; Hyperhomocysteinemia - genetics; Male; Medical sciences; Methylenetetrahydrofolate Reductase (NADPH2); Neurology; Oxidoreductases Acting on CH-NH Group Donors - genetics; Polymorphism, Genetic; Prothrombin - genetics; Risk Factors; Stroke - diagnosis; Stroke - etiology; Stroke - genetics; Vascular diseases and vascular malformations of the nervous system; Venous Thrombosis - genetics
• ISSN: 0039-2499; 1524-4628
• DOI: 10.1161/hs0102.100483

The mechanisms of ischemic stroke in young adults are poorly understood. During the last years, several studies suggested a role for genetic factors predisposing to thrombophilia and for moderate hyperhomocysteinemia in this setting. We evaluated in 132 consecutive patients (66 males, 66 females; mean+/-SD age, 38.4+/-11.7 years; mean+/-SD age at first event, 34.8+/-10.9 years; range, 6 months to 50 years) referred to our center between January 1997 and December 1999 for a history of young adult ischemic stroke (age at first event, 0.05, chi(2) test). However, when we stratified the whole population according to genotype, fasting serum homocysteine levels were significantly higher in TT patients than in TT controls (25.3+/-36.8 versus 15+/-11.6 micromol/L; P=0.02, t test). Mutations of FV Leiden and of FII G20210A gene are currently reported to be associated with a tendency toward ischemic stroke. Their frequencies were not statistically significantly different between patients and controls in this setting: 7 of 132 (5.3%) versus 17 of 262 (6.5%) for FV Leiden and 10 of 132 (7.6%) versus 16 of 262 (6.1%) for FII G20210A, respectively (all P>0.05, chi(2) test). In the present cohort of patients, moderate hyperhomocysteinemia is the only variable that helps to identify young adults with a history of ischemic stroke.