Fabry disease
ORPHA:324· ICD-10 E75.2
Definition
A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood