Interní Med. 2012; 14(10): 378-382

Fabry disease - lysosomal storage disease with multiorgan involvement

MUDr.Lubor Goláň

II. interní klinika VFN a 1. LF UK

Fabry disease is an inherited lysosomal storage disorder. The inheritance is gonosomal recessive but females can also be involved. A gene

mutation causes a shortage of the enzyme α-galactosidase A leading to storage of globotriaosylceramide in cells of various tissues

and their damage. It is a rare disease which manifests in childhood with symptoms secondary to peripheral nerve involvement (paresthesias,

pain of extremities, fevers). Hypertrophic cardiomyopathy and renal disease leading to failure of function are characteristic.

Involvement of central nervous system, gastrointestinal tract, ear and vestibular apparatus may also be present. Typical manifestations

are angiokerathomas of skin and corneal opacities called cornea verticillata. The treatment consists of enzyme substitution of missing

enzyme and control of symptoms. There are 3 case reports demonstrating the serious involvement in Fabry disease discussed in the paper.

Keywords: Fabry disease, hypertrophic cardiomyopathy, renal failure, lysosomal storage disease

Published: November 1, 2012  Show citation