Heterozygosity for hemocysteinuria: A detectable and reversible risk factor for pulmonary thromboembolism

M. Confalonieri, P. Parigi, A. Scartabellati, S. Aiolfi, G. Patrini, L. Ghio, F. Mauri, L. Gandola

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Abstract

Heterozygosity for homocysteinuria is a common, inherited autosomal condition that has recently been considered as an independent cardiovascular risk factor. In vitro and in vivo results suggest that this condition, like the homozygous form, is also a risk factor for deep-venous thrombosis and pulmonary thromboembalism. We report a case of recurrent pulmonary thromboembolism in a young woman with familial hyperhomocysteinaemia. The relative frequency of this condition, as well as its simple and harmless cure, make testing for heterozygosity for homocysteinuria useful and profitable in the prevention of pulmonary thromboembolism, above all in younger subjects with a significant case history.

Original languageEnglish
Pages (from-to)114-115
Number of pages2
JournalMonaldi Archives for Chest Disease - Cardiac Series
Volume50
Issue number2
Publication statusPublished - 1995

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Keywords

  • Heterozygosity homocysreinuria
  • Thromboembolism

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Pulmonary and Respiratory Medicine

Cite this

Confalonieri, M., Parigi, P., Scartabellati, A., Aiolfi, S., Patrini, G., Ghio, L., Mauri, F., & Gandola, L. (1995). Heterozygosity for hemocysteinuria: A detectable and reversible risk factor for pulmonary thromboembolism. Monaldi Archives for Chest Disease - Cardiac Series, 50(2), 114-115.