Sweeley-Klionsky Disease

Below you will find more information about Sweeley-Klionsky Disease from Medigest. If you believe that you are suffering from any of the symptoms of Sweeley-Klionsky Disease it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Sweeley-Klionsky Disease and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Sweeley-Klionsky Disease comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

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 and Signs

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.

Causes

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.

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