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Published on: July 28, 2018
Vasospasmus: a rare manifestation of homocystinuria
R Katzenschlager1, H Burgmann, H Ehringer
1Abteilung für Angiologie, Universität Wien, Osterreich.
Insights
Homocystinuria can cause rare arterial spasms and stenoses in iliac arteries. Vasodilative therapy effectively treated these vascular complications in a patient with homocystinuria.
Area of Science:
- Vascular Medicine
- Metabolic Disorders
- Genetics
Background:
- Homocystinuria is a rare inherited metabolic disorder.
- Elevated homocysteine levels can lead to vascular complications.
- Arterial spastic stenosis is an uncommon manifestation.
Observation:
- A patient presented with multiple spastic stenoses of the iliac arteries and left tibiofibular trunc occlusion.
- Laboratory tests showed elevated homocysteine levels, confirmed by fibroblast culture.
- Vascular imaging revealed significant arterial narrowing and occlusion.
Findings:
- The patient's arterial spasms responded well to vasodilative agents like nitroglycerine, molsidomine (cGMP-mediated), and prostaglandin E1.
- Nifedipine, a calcium influx blocker, was ineffective in treating the spasms.
- Literature review indicates arterial spastic abnormality is a rare complication of homocystinuria.
Implications:
- This case highlights a rare vascular complication of homocystinuria.
- Effective treatment involves vasodilative therapies targeting specific pathways.
- Understanding these rare manifestations is crucial for comprehensive patient management.
Abstract:
We report about a patient suffering from multiple spastic stenoses of varying degree of both iliac arteries and from occlusion of the left tibiofibular trunc. Laboratory investigations revealed increased levels of homocysteine and the diagnosis of homocystinuria was confirmed by fibroblast cell culture. The spasms responded well to vasodilative therapy with nitroglycerine, molsidomine (cGMP mediated) and prostaglandine E1 but not with nifedipine (Ca influx blocker). Our review of literature demonstrated that this arterial spastic abnormality is a very rare complication in patients suffering from homocystinuria.
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