Fabry disease is an X-linked storage disorder caused by mutations in the a-galactosidase A gene.1 The deficiency of a-galactosidase A leads to accumulation of globotriaosylceramides in all organs containing lysosomes. As a response to the globotriaosylceramide storage, the tissue reacts with compensative mechanisms, e.g. hypertrophy, inflammation, and fibrosis. When organ involvement progresses, this finally leads to organ failure, mainly of three organ systems, such as the heart, the kidney, and the nervous system.2 Most patients experience a long-lasting diagnostic history before they are finally diagnosed as having Fabry disease. The deficiency of a-galactosidase A is characteristic and pathognomonic for male patients. Thus, diagnostic algorithms and the decision when to initiate enzyme replacement therapy in male patients have been well established in recent years.
展开▼