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Chapter 5.3 - Genetic Metabolic Diseases

from 5 - Hereditary and Genetic Causes of Stroke

Published online by Cambridge University Press:  06 October 2022

Anita Arsovska
Edited by
Derya Uluduz
Anita Arsovska
Affiliation:
University of Ss Cyril and Methodius
Derya Uluduz
Affiliation:
Istanbul Üniversitesi
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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

Keywords

Fabry diseasestrokealpha-galactosidase A enzyme deficiencyenzyme-replacement therapyagalsidase alfaagalsidase beta
Type
Chapter
Information
Rare Causes of Stroke
A Handbook
 , pp. 246 - 252
Publisher: Cambridge University Press
Print publication year: 2022

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References

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