Fabry's disease overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sukaina Furniturewala, MBBS[2]
Overview
- Fabry disease (also known as alpha-galactosidase A deficiency, ceramide trihexosidase deficiency, angiokeratoma corporis diffusum, Anderson Fabry disease) is an X-linked recessive inherited lysosomal storage disorder.
- It occurs as a result of the body's inability to make the enzyme alpha-galactosidase A. This enzyme encoded by the GLA gene located on the long arm of the X chromosome (q21-22) is in-turn responsible for breaking down a type of fat called globotriaosylceramide (Gb3 or GL-3) into building blocks that are used by the cells of the body.
- The Glycosphingolipid storage initiates a cascade of events that begins with the dysfunction of basic metabolic processes on the cellular level followed by progression to cell death, inflammatory events, and progressive major organ dysfunction.[2]
- Three main organ systems commonly affected include the brain, heart and kidney.
- Prenatal and neonatal studies of the histopathology of Fabry disease have confirmed that pathogenic GL3 accumulations occur in the maternal region of the placenta, fetal tissues, and the fetal placenta regions of affected males. In male fetuses affected these accumulations have been found in renal, myenteric plexus, and liver cells.This prenatal storage suggests that the process of Fabry disease may lead to early childhood symptoms[3][4]
- Fabry disease is a rare condition that can affect people regardless of their ethnic background.
References
[2] Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8: 539–548.
[3] Elleder M, Poupĕtová H, Kozich V . Fetal pathology in Fabry’s disease and mucopolysaccharidosis type I. Cesk Patol 1998;34:7–12.
[4] Thurberg BL, Politei JM . Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. Hum Pathol 2012;43:610–614.
[5] Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006 Apr;43(4):347-52. Epub 2005 Oct 14. Citation on PubMed or Free article on PubMed Central