Signs and Symptoms of Fabry Disease

The signs and symptoms associated with Fabry disease are widely varied, making diagnosis challenging. Clinical onset usually occurs in childhood or adolescence, but symptoms are frequently misinterpreted or overlooked.1 Accurate diagnosis is frequently not established until adulthood, when the disease has progressed, and organ dysfunction or failure has occurred.1

In this section, learn about clinical findings which may lead to a presumptive diagnosis of Fabry disease, including:

Angiokeratomas
Cardiac dysfunction
Gastrointestinal symptoms
Heat and cold intolerance
Hypohidrosis/anhidrosis
Neurological manifestations
Ocular findings
Pain
Renal manifestations

Presenting features

The cardinal presenting features of Fabry disease are intermittent acroparesthesia and episodic crises of pain and fever (especially in childhood), angiokeratomas, hypohidrosis, heat and cold intolerance, exercise intolerance, and a characteristic “whorled” corneal opacity that typically does not affect vision. Progressive accumulation of GL-3 in the vascular endothelium and other tissues can lead to life-threatening manifestations in adulthood involving the heart, kidneys, central and peripheral nervous system, and cerebrovascular system. 2-4 

References:

1. Shelley ED, WB Shelley, TW Kurczynski. Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. Pediatr Dermatol. 1995;12:215-219.

2. Desnick RJ, YA Ioannou, CM Eng. α-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001: 3733-3774.

3. Okuda S. Renal involvement in Fabry's disease. Intern Med. 2000;39:601-602.

4. Grewal RP. Stroke in Fabry’s disease. J Neurol 1994;241:153-156.