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Intermittent claudication -- atypical presentation, diagnosis and treatment.

I Taylor1, X Dennett, K Nicholls

  • 1Department of Neurology, Royal Melbourne Hospital, Parkville, Vic. 3050, Australia. i.taylor@bigpond.com

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|September 1, 2004
PubMed
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Fabry's disease can cause intermittent claudication due to small vessel vasculopathy. This case suggests microvascular glycosphingolipid accumulation, not macrovascular issues, may be the cause.

Area of Science:

  • Vascular Medicine
  • Rare Genetic Disorders

Background:

  • Fabry disease is a rare X-linked genetic disorder.
  • It results from deficient activity of the enzyme alpha-galactosidase A.
  • Accumulation of globotriaosylceramide leads to systemic complications.

Observation:

  • A male patient presented with recurrent intermittent claudication.
  • This symptom was associated with small vessel vasculopathy.
  • The presentation mimicked macrovascular insufficiency.

Findings:

  • The case suggests microvascular involvement as a cause of claudication in Fabry disease.
  • Local accumulation of glycosphingolipid in smooth muscle fibers of vessel walls is implicated.
  • This contrasts with the classical understanding of macrovascular insufficiency.

Related Experiment Videos

Implications:

  • Highlights the role of microvascular disease in Fabry-related symptoms.
  • Suggests a need to consider microvascular assessment in patients with Fabry disease and claudication.
  • May influence diagnostic and therapeutic strategies for Fabry disease complications.