Fabry's disease, Anderson–Fabry disease, angiokeratoma corporis diffusum, alpha-galactosidase A deficiency
Alpha galactosidase - the deficient protein in Fabry disease
Pronunciation
/ˈfɑːbri/
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, Joh (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, William (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, Raphael (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.
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members of this group are Niemann–Pick disease, Fabrydisease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They...
under the brand name Galafold, is a medication for the treatment of Fabrydisease, a rare genetic disorder. It was developed by Amicus Therapeutics. The...
Members of this group include Niemann-Pick disease, Fabrydisease, Krabbe disease, Gaucher disease, Tay–Sachs disease, metachromatic leukodystrophy, multiple...
characterized by hyperkeratosis. Angiokeratoma corporis diffusum refers to Fabry'sdisease, but this is usually considered a distinct condition. Presentation...
members of this group are Niemann-Pick disease, Fabrydisease, Krabbe disease, Gaucher disease, Tay–Sachs disease and Metachromatic leukodystrophy. They...
for some lysosomal storage diseases: Gaucher disease, Fabrydisease, MPS I, MPS II (Hunter syndrome), MPS VI and Pompe disease. ERT does not correct the...
Jean Fabry (1876-1968), French politician Johannes Fabry, German dermatologist who provided the first description of Fabrydisease Joseph Fabry, author...
of the disease in a 13-year-old boy, naming the condition "purpura haemorrhagica nodularis". The disease is also called "Anderson-Fabrydisease", named...
epithelium forming a faint golden-brown whorl pattern. It is seen in Fabrydisease or in case of prolonged amiodarone intake. Furthermore, it is a common...
Other inherited causes of left ventricular hypertrophy may include Fabrydisease, Friedreich's ataxia, and certain medications such as tacrolimus. Other...
treatment of dialysis patients, and Fabrazyme, used to treat patients with Fabry'sdisease. Other products in development are Tolevamer for Clostridium difficile...
this condition include a metabolic disorder called Fabrydisease, immune disorders such as celiac disease or Sjogren syndrome, an inflammatory condition called...
globotriaosylceramide, causing Fabry'sdisease. The pharmaceutical drug migalastat enhances the function of alpha-galactosidase and is used to treat Fabry's. Globotriaosylceramide...
name Elfabrio, is an enzyme replacement therapy for the treatment of Fabrydisease. It is a recombinant human α-galactosidase-A. It is a hydrolytic lysosomal...
secreted sweat. Ectodermal dysplasia can present a lack of sweat glands. Fabrydisease, characterized by excess globotriaosylceramide (GL3), causes a decrease...
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