| Fabry disease | |
|---|---|
| Other names | Fabry's disease, Anderson–Fabry disease, angiokeratoma corporis diffusum, alpha-galactosidase A deficiency |
 | |
| Alpha galactosidase - the deficient protein in Fabry disease | |
| Pronunciation | |
| Specialty | Medical Genetics |
| Complications | Heart failure, abnormal heart rhythms |
| Usual onset | Childhood |
| Causes | Genetic |
| Diagnostic method | Enzyme activity assay, genetic testing |
| Differential diagnosis | Hypertrophic cardiomyopathy |
| Treatment | Enzyme replacement |
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin.[1] Fabry disease is one of a group of conditions known as lysosomal storage diseases. The genetic mutation that causes Fabry disease interferes with the function of an enzyme that processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs. It is inherited in an X-linked manner.
Fabry disease is sometimes diagnosed using a blood test that measures the activity of the affected enzyme called alpha-galactosidase, but genetic testing is also sometimes used, particularly in females.
The treatment for Fabry disease varies depending on the organs affected by the condition, and the underlying cause can be addressed by replacing the enzyme that is lacking.
The first descriptions of the condition were made simultaneously by dermatologist Johannes Fabry[2] and the surgeon William Anderson[3] in 1898.[4]
- ^ James, Berger & Elston 2006, p. 538
- ^ Fabry J (December 1898). "Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae)" [A contribution to the knowledge of the purpura haemorrhagica nodularis (purpura papulosa haemorrhagica Hebrae)]. Archiv für Dermatologie und Syphilis (in German). 43 (1): 187–200. doi:10.1007/bf01986897. S2CID 33956139.
- ^ Anderson W (April 1898). "A Case of 'Angeio-Keratoma'". British Journal of Dermatology. 10 (4): 113–117. doi:10.1111/j.1365-2133.1898.tb16317.x. S2CID 70966125.
- ^ Schiffmann R (2015). "Fabry disease". Neurocutaneous Syndromes. Handbook of Clinical Neurology. Vol. 132. pp. 231–248. doi:10.1016/B978-0-444-62702-5.00017-2. ISBN 9780444627025. PMID 26564084.