Definition

Sweeley-Klionsky disease (also known as Anderson-Fabry disease, Angiokeratoma corporis diffusum, Ceramide trihexosidosis, and Fabry disease) is an X-linked recessive (inherited) lysosomal storage disease.

Diagnosis

Symptoms include fatigue, anhidrosis, and red spots on skin. Some of the typical pathological symptoms includes skin lesions (angiokeratomas), and a burning pain of the extremities. This pain can become very strong, especially when one has a fever. Angiokeratomas are tiny, painless papules that appear at any region of the body, but are typically found on the thighs, buttocks, lower abdomen, and groin. Ocular involvement may be found showing cornea verticillata (also known as vortex keratopathy); this corneal whorling does not have any effect on vision or eye function.

Treatment

It is currently being treated at the cellular level through the use of enzyme replacement therapy using Agalsidase alpha (Replagal) and Agalsidase beta (Fabrazyme).

Symptoms

A deficiency of the enzyme alpha galactosidase A leads to a glycolipid known as globotriaosylceramide (also abbreviated as Gb3, GL-3, or ceramide trihexoside) to accumulate within the blood vessels, other tissues, and organs.

Causes