It is also known as Anderson-Fabry disease, Angiokeratoma corporis diffusum, Ruiter-Pompen-Wyers syndrome, Ceramide trihexosidosis and Sweeley-Klionsky disease. It is an X-linked recessive inherited lysosomal storage disease. It is genetically inherited disease.

 

It is due to deficiency of enzyme alpha galactosidase A causing accumulation of glycolipids in the blood vessels, tissues and organs. It occurs due to lack of the enzymes needed to metabolize the lipids like oils, waxes and fatty acids. It is one of severe lipid storage disease.

Signs and symptoms

• Anhidrosis
• Fatigue
• Angiokeratomas: These are small, painless papules appearing at any region of the body, but are predominant on thighs, buttocks, lower abdomen and groin
• Burning pain in extremity like hands or feet called acroparesthesias.
• Ocular involvement leading to vortex keratopathy, conjunctival aneurysms, and posterior spoke like cataracts, papilloedema, macular edema, optic atrophy, retinal vascular dilation, corneal verticillata.
• Kidney complications like renal in sufficiency renal failure.
• Heart disease.
• Stroke
• Hearing loss
• Tinnitus
• Vertigo
• Nausea
• Diarrhea

Treatment of Fabry disease

Enzyme replacement therapy using Agalsidase alpha and Agalsidase beta.