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HOMOCYSTINURIA AND CARDIOVASCULAR MANIFESTATIONS: 5 ITALIAN CASES
Abstract number: P-W-606
Evangelisti1 L., Attanasio1 M., Lucarini1 L., Rossi1 L., Lapini1 I., Lenti1 M., Prisco1 D., Abbate1 R., Gensini2 G.F., Pepe1 G.
11Department of Medical and Surgical Critical Care, University of Florence, Italy 22Department of Medical and Surgical Critical Care, Centro S.Maria degli Ulivi, Fondazione Don Carlo Gnocchi, Onlus, IRCSS, Florence, Italy, florence, Italy
How-to-cite Evangelisti L, Attanasio M, Lucarini L, Rossi L, Lapini I, Lenti M, Prisco D, Abbate R, Gensini GF, Pepe G. HOMOCYSTINURIA AND CARDIOVASCULAR MANIFESTATIONS: 5 ITALIAN CASES. J Thromb Haemost 2007; 5 Supplement 2: P-W-606
Abstract
Introduction: Homocystinuria is a metabolic disorder due mainly to cystathione beta-synthase (CBS) deficiency producing an increased urinary excretion of homocysteine and methionine. Differential diagnosis between homocystinuria and Marfan syndrome is based on the dosage of plasma and urinary homocysteine. Among the major clinical features of homocystinuria there are vascular and connective tissue manifestations such as deep venous thrombosis, ectopia lentis and skeletal alterations. In the present study we investigated the clinical manifestations of 5 Italian homocystinuric patients, performed mutation screening analysis on cysthationine-beta-syntase (CBS) gene and searched for genotype/phenotype correlation
Methods: The CBS gene analysis was performed by denaturing high performance liquid chromatography (dHPLC) and direct sequencing of the heteroduplexes.
Results: We detected one novel (missense mutation A157P) and 7 known mutations of CBS gene. The missense A157P is present in 3/300 controls suggesting the possibility that is either a frequent mutation or a rare polymorphism. In our patients homocysteine appears to be the only known factor responsible for venous thrombosis events
Conclusions: Our clinical data suggest that the connective tissue manifestations in homocystinuric patients include also cardiovascular and skin features, increasing the overlapping with Marfan phenotype. The detection of cardiovascular manifestations suggests a long term follow up of these patients with aging.
To cite this abstract use the following format:
Journal of Thrombosis and Haemostasis 2007; Volume 5, Supplement 2: abstract number
Session Details
| Date: |
01/08/2007
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| Time: |
00:00-00:00
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| Session name: |
XXIst ISTH Congress |
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| Location: |
Oxford, UK |
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