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Homozygous Cystathionine  -Synthase Deficiency, Combined With
Factor V Leiden or Thermolabile Methylenetetrahydrofolate
Reductase in the Risk of Venous Thrombosis
Leo A.J. Kluijtmans,
Godfried H.J. Boers,
Bert Verbruggen,
Frans
J.M. Trijbels,
Irena R.O. Nováková, and
Henk J. Blom
From the Departments of Pediatrics, Internal Medicine, and
Haematology, Central Laboratory for Haematology, University Hospital
Nijmegen, the Netherlands.
Severe hyperhomocysteinemia in its most frequent form, is caused by
a homozygous enzymatic deficiency of cystathionine  -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
334:763, 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 677CT 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.
Blood, Vol. 91 No. 6 (March 15), 1998:
pp. 2015-2018
© 1998 by The American Society of Hematology.
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