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Chapter 5.3 - Genetic Metabolic Diseases
from 5 - Hereditary and Genetic Causes of Stroke
Edited by Derya Uluduz, Istanbul Üniversitesi
Anita Arsovska
Book:

Rare Causes of Stroke

Published online:

06 October 2022

Print publication:

01 September 2022, pp 246-252
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Summary

Fabry disease is a rare multisystemic X-linked lysosomal storage disease characterized by lysosomal alpha-galactosidase A (α-Gal A) enzyme deficiency that results in globotriaosylceramide (Gb-3) accumulation inside the body. The incidence of the disease has been estimated to be approximately 1 in 40,000 to 1 in 117,000 in the general population. Male patients and symptomatic heterozygous females have symptoms including skin lesions, acroparesthesia, corneal and lenticular changes, abdominal pain, chronic diarrhea, proteinuria and hypohidrosis. Later, progressive vascular involvement leads to renal insufficiency, cardiovascular dysfunction and stroke. Treatment should include enzyme-replacement therapy (ERT) and adjunctive therapies under the supervision of a multidisciplinary clinical team. ERT is available in the forms of agalsidase alfa and agalsidase beta. We present a 21 year-old male with recurrent stroke and Fabry disease, treated with ERT