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Intermittent claudication unmasking underlying Fabry's disease.
E J Diamantopoulos1, E A Andreadis, C V Vassilopoulos
14th Department of Internal Medicine, Evangelismos State General Hospital, Athens, Greece.
Summary
Fabry disease, a rare genetic disorder, was diagnosed in a middle-aged woman presenting with leg pain and symptoms mimicking peripheral arterial occlusive disease. This case highlights the importance of considering Fabry disease in female carriers with unusual vascular symptoms.
Area of Science:
- Genetics
- Vascular Medicine
- Rare Diseases
Background:
- Peripheral arterial occlusive disease (PAOD) typically presents with cardiovascular risk factors.
- Unexplained leg pain, especially at rest, can indicate severe ischemia and warrant further investigation.
- Fabry disease is a rare X-linked genetic disorder affecting multiple organ systems.
Observation:
- A 53-year-old woman presented with leg pain, decreased sweating, and Raynaud's phenomenon, despite lacking typical PAOD risk factors.
- Symptoms included burning pain in lower extremities, angiokeratomas, corneal opacities, and left ventricular hypertrophy (LVH).
- These clinical features raised suspicion for an underlying predisposing condition.
Findings:
- Diagnosis of Fabry disease was confirmed by low serum a-galactosidase-A activity.
- The patient exhibited intermittent claudication attributed to generalized atherosclerosis.
- This case is unusual as Fabry disease symptoms are rarely pronounced in female carriers.
Implications:
- This case underscores the importance of considering Fabry disease in the differential diagnosis of vascular conditions, even in female patients.
- Early diagnosis of Fabry disease in carriers can facilitate timely management and potentially prevent severe complications.
- Further research into the clinical spectrum and management of Fabry disease in female carriers is warranted.