Occlusive arterial disease as a form of presentation of homocystinuria.
Homocystinuria was first described in 1962. The disease affects several systems including the eyes, skeletal and nervous and vascular systems. We present the case of a 28-year old woman who presented with a severe occlusive arteriopathy. Screening for the most usual causes of arterial disease in young patients was negative, but a study of aminoaciduria and column chromatography confirmed the diagnosis of B6-responsive homocystinuria. Although it was necessary to amputate her left leg, the patient remains asymptomatic 16 months after B6 therapy was started.
Monreal
M
M
Internal Medicine Service, Hospital Universitario de Badalona Germans Trias i Pujol, Barcelona, Spain.
Callejas
J M
JM
Martorell
A
A
Silveira
P
P
Gallego
M
M
Lafoz
E
E
Casals
A
A
D000328:Adult; D001157:Arterial Occlusive Diseases / Q000209:etiology*; D005260:Female; D006712:Homocystinuria / Q000150:complications*; D006801:Humans; D007383:Intermittent Claudication / Q000209:etiology; D007866:Leg / Q000098:blood supply*