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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
Summary
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.
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.