doi: 10.1161/hs0102.100483
(Stroke. 2002;33:51.)
© 2002 American Heart Association, Inc.
Original Contributions |
Hyperhomocysteinemia and Other Inherited Prothrombotic Conditions in Young Adults With a History of Ischemic Stroke
From the Dipartimento di Medicina Clinica e Sperimentale, Centro di Coordinamento Regionale per le Emocoagulopatie, Clinica Medica, and Dipartimento di Scienze Neurologiche (G.O.), Università degli studi di Napoli "Federico II," Naples, Italy.
Correspondence to Dr Pasquale Madonna, Department of Clinical and Experimental Medicine, University of Naples "Federico II," Via Sergio Pansini 5, 80131 Naples, Italy. E-mail vadestef{at}unina.it
Background and Purpose— 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.
Methods— 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, <51 years) the prevalence of factor V (FV) Leiden, prothrombin (FII) G20210A, and C677T and 5,10-methylenetetrahydrofolate reductase (MTHFR) gene mutations and fasting serum total homocysteine levels. Two hundred sixty-two apparently healthy subjects (117 males, 145 females; mean±SD age, 36±13.2 years) served as controls.
Results— Total homocysteine levels differed significantly (P=0.004, t test) between patients and controls: 13.03±18.61 versus 10.75±6.24 µmol/L (mean±SD), respectively. In contrast, homozygosity for the TT mutation of the MTHFR gene was 30 of 132 (22.7%) in patients and 45 of 262 (17.2%) in controls; this difference was not statistically significant (P>0.05, 
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 µmol/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, 2 test).
Conclusions— In the present cohort of patients, moderate hyperhomocysteinemia is the only variable that helps to identify young adults with a history of ischemic stroke.
Key Words: genetics • homocysteine • stroke, ischemic • young adults
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