Turkish Journal of Internal Medicine

Yazarlar: Aysegul ORUC

Konular:Genel ve Dahili Tıp

Anahtar Kelimeler:Fabry disease,Alpha-galactosidase A

Özet: Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of the disease. The clinical heterogeneity and non-specific symptoms cause under-diagnosis and diagnosis delay. There are several clinical variants of FD which are associated with genetic and residual enzyme activity and listed as the classical, atypical (later-onset), renal and cardiac variants. Renal, cardiovascular and neurovascular involvement are the main causes of morbidity and mortality. Patients with acroparesthesias, episodic pain crises, proteinuria, chronic kidney disease, ventricular hypertrophy and cerebrovascular evets of unknown etiology should be screened for Fabry disease. Early initiation of enzyme replacement treatment improves the quality of life and prognosis. Therefore it is essential to have awareness and knowledge about Fabry disease. Herein we aimed to summarize Fabry disease and point out that a Fabry patient might have visited you at your outpatient clinic.

---