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Occlusive arterial disease as a form of presentation of homocystinuria
M Monreal1, J M Callejas, A Martorell
1Internal Medicine Service, Hospital Universitario de Badalona Germans Trias i Pujol, Barcelona, Spain.
Insights
Homocystinuria, a rare genetic disorder, can cause severe vascular issues. Early diagnosis and Vitamin B6 treatment led to a positive outcome for a young woman with severe arterial disease.
Area of Science:
- Biochemistry
- Genetics
- Vascular Medicine
Background:
- Homocystinuria is a rare inherited metabolic disorder.
- It is characterized by elevated homocysteine levels, affecting multiple organ systems.
- Vascular complications, including arteriopathy, are a significant manifestation.
Observation:
- A 28-year-old woman presented with severe occlusive arteriopathy.
- Standard screening for common causes of arterial disease in young individuals was negative.
- Diagnostic evaluation included aminoaciduria and column chromatography.
Findings:
- The patient was diagnosed with pyridoxine (Vitamin B6)-responsive homocystinuria.
- Despite the severity of her arteriopathy, necessitating leg amputation, the patient responded well to B6 therapy.
Implications:
- This case highlights the importance of considering homocystinuria in young patients with unexplained arterial disease.
- Vitamin B6 therapy can be effective in managing vascular complications of homocystinuria.
- Timely diagnosis and treatment are crucial for improving patient outcomes in homocystinuria.
Abstract:
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.