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.
|Number of pages||2|
|Journal||Monaldi Archives for Chest Disease - Cardiac Series|
|Publication status||Published - 1995|
- Heterozygosity homocysreinuria
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
- Pulmonary and Respiratory Medicine