HOMOCYSTINURIA PRESENTING AS MULTIPLE ARTERIAL OCCLUSIONS

  • 1 January 1984
    • journal article
    • research article
    • Vol. 53  (210) , 251-258
Abstract
A patient with pyridoxine-responsive homocystinuria who presented with multiple arterial occlusions after pregnancy but who showed no other stigmata of the disease was studied. In patients with unusual vascular lesions, screening for homocystinuria should be carried out even in the absence of the other manifestations of the condition. Family screening showed that her brother was also affected but that their children were not, confirming the autosomal recessive model of inheritance. Normal platelet behavior was observed; both she and her brother had normal veins and arteries on biopsy, so the mechanisms underlying the thrombotic complications remain uncertain. It seem likely that pregnancy contributed to the time of onset of the thrombotic complications in the index case, because of the fetal demands for pyridoxine or folate during gestation.