[Juvenile vascular pathology due to homocystinuria. A clinical case report]

Abstract

The authors report a case of juvenile vasculopathy in a homocystinuria patient. They point out that thromboembolism may be the only symptomatic expression of this genetically determined metabolic disease. Diagnostic approach and surgical therapy of the vascular lesions as well as medical therapy to prevent further complications are analysed. The opportunity to perform clinical tests for the diagnosis of homocystinuria in all those young patients presenting vascular lesions without other risk factors is finally stressed.