Abstract
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a defect in the α-galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme α-galactosidase A. The consequent inability to catabolize glycosphingolipids causes progressive accumulation of globotriaosylceramide in the vascular endothelium throughout the body. Fatalities in the classical phenotype may usually occur as a consequence of cerebral, cardiac or renal disease. Dermatological manifestations are a relevant feature of Fabry disease and include angiokeratomas, telangiectasiae, lymphedema, anhidrosis or hypohidrosis and pseudo-acromegalic facial appearance. The actual causal treatment for Fabry disease is the enzyme replacement therapy. Dermatologists have a key role, since cutaneous manifestations may lead to the diagnosis. This may help an early therapeutic intervention, reducing both morbidity and mortality.
Lingua originale | English |
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pagine (da-a) | 6031-6036 |
Numero di pagine | 6 |
Rivista | CURRENT PHARMACEUTICAL DESIGN |
Volume | 19 |
Stato di pubblicazione | Published - 2013 |
All Science Journal Classification (ASJC) codes
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- ???subjectarea.asjc.3000.3002???