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- An X-linked glycolipid storage disease caused by mutation in GLA gene causing a deficiency of the lysosomal enzyme α-galactosidase A
- Also known as angiokeratoma corporis diffusum, ceramide trihexosidosis, α-galactosidase A deficiency, or Anderson-Fabry disease
- Multisystem, progressive disease that can have cutaneous, cardiovascular, cerebrovascular, renal, neurologic, and psychiatric manifestations
- Second most prevalent lysosomal storage disease (after Gaucher disease)
- Manifests primarily in men (given that it is X-linked), but female heterozygotes are also affected
- Reported incidence from 1:3,100 to 1:117,000 live male births, although the prevalence is likely underestimated given delays in diagnosis (1). Female prevalence is unclear due to perceived underdiagnosis.
- More likely to be undiagnosed in at risk populations (e.g., young patients with stroke, hypertrophic cardiomyopathy of unknown cause)
Etiology and Pathophysiology
- X-linked inborn error of the glycosphingolipid metabolic pathway
- Deficiency of α-galactosidase A results in the accumulation of globotriaosylceramide (Gb3) in lysosomes in multiple cell types throughout the body.
- Accumulation of Gb3 is particularly prominent in the vascular endothelium and smooth muscle cells, leading to vascular occlusion, ischemia, and infarct.
- Gene defect located on the long arm of the X chromosome, Xq22
- X-linked inheritance pattern
- Hemizygous men are most commonly affected. Up to 70% of affected females have mild to pronounced features.
- Genetic testing is available. If family history suggests a diagnosis of Fabry disease, genetic testing and counseling should be offered to all family members, regardless of gender.
Fabry disease is a hereditary disorder. Early identification and proper management can prevent or delay complications.