Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
Blood
; 91(6): 2015-8, 1998 Mar 15.
Article
en En
| MEDLINE
| ID: mdl-9490685
ABSTRACT
Severe hyperhomocysteinemia in its most frequent form, is caused by a homozygous enzymatic deficiency of cystathionine beta-synthase (CBS). A major complication in CBS deficiency is deep venous thrombosis or pulmonary embolism. A recent report by Mandel et al (N Engl J Med 334763, 1996) postulated factor V Leiden (FVL) to be an absolute prerequisite for the development of thromboembolism in patients with severe hyperhomocysteinemia. We studied 24 patients with homocystinuria caused by homozygous CBS deficiency from 18 unrelated kindreds for FVL and for the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and investigated their possible interaction in the risk of venous thrombosis. Thrombotic complications were diagnosed in six patients, of whom only one was a carrier of FVL. On the contrary, thermolabile MTHFR caused by the 677C-->T mutation, was frequently observed among homocystinuria patients, especially among those with thromboembolic complications three of six homocystinuria patients who had suffered from a thromboembolic event had thermolabile MTHFR. These data indicate that FVL is not an absolute prerequisite and probably not even a major determinant of venous thrombosis in homocystinuria, but, interestingly, thermolabile MTHFR may constitute a significant risk factor for thromboembolic complications in this inborn error of methionine metabolism.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Embolia Pulmonar
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Tromboflebitis
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Factor V
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Trombofilia
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Cistationina betasintasa
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Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH
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Homocisteína
Tipo de estudio:
Etiology_studies
/
Risk_factors_studies
Límite:
Adolescent
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Adult
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Child, preschool
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Blood
Año:
1998
Tipo del documento:
Article
País de afiliación:
Países Bajos