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.

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