Fabry Disease
Pathogenesis (Lysosomal Storage Disorder)
- Inefficient alpha-galactosidase A results in failure of fatty acid (globotriaosylceramide) breakdown with toxic accumulation in lysosomes of blood vessels, skin, kidneys, heart, and nervous system.
Clinical
- Onset: Childhood
- Neurological/Systemic Manifestations: DIFFUSE. Divide into – a) Pain, b) Skin Abnormalities, c) Renal/GI Abnormalities, d) Cardiovascular/Cerebrovascular Disease. These manifestations include Acroparesthesias (pain in hands and feet), Angiokeratomas (dark red spots on skin), Hypohidrosis, Corneal opacity, GI system abnormalities, Hearing loss & ringing, Kidney failure, Heart damage, and Stroke.
Genetics
- GLA gene
- X-linked (Females affected ~ as severely as Males)
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov