Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Book

Fabry Disease

Syed Rizwan A. Bokhari  1 , Hassam Zulfiqar  2 , Anis Hariz  3
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
Affiliations
Free Books & Documents
Book

Fabry Disease

Syed Rizwan A. Bokhari et al.
Free Books & Documents

Excerpt

Fabry disease is a multi-systemic, X-linked lysosomal storage disease caused by decreased activity of alpha-galactosidase A and results in lysosomal accumulations of neutral glycosphingolipids and globotriaosylceramide GL-3. Angiokeratoma corporis diffusum is the typical skin lesion seen in Fabry disease and is linked to renal involvement, especially proteinuria. Young adults presenting with a cerebrovascular event in association with myocardial infarction and renal dysfunction should be considered for Fabry disease. Abnormalities in almost any part of the body can be found with more predisposition of the skin, eye, kidney, heart, brain, and peripheral nervous system.

PubMed Disclaimer

Conflict of interest statement

Disclosure: Syed Rizwan Bokhari declares no relevant financial relationships with ineligible companies.

Disclosure: Hassam Zulfiqar declares no relevant financial relationships with ineligible companies.

Disclosure: Anis Hariz declares no relevant financial relationships with ineligible companies.

References

    1. Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018 Jul;124(3):189-203. - PubMed
    1. Lenders M, Brand E. Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients with Fabry Disease. J Am Soc Nephrol. 2018 Sep;29(9):2265-2278. - PMC - PubMed
    1. Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ. The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. Genet Med. 2019 Mar;21(3):631-640. - PMC - PubMed
    1. Chan B, Adam DN. A Review of Fabry Disease. Skin Therapy Lett. 2018 Mar;23(2):4-6. - PubMed
    1. Del Pino M, Andrés A, Bernabéu AÁ, de Juan-Rivera J, Fernández E, de Dios García Díaz J, Hernández D, Luño J, Fernández IM, Paniagua J, Posada de la Paz M, Rodríguez-Pérez JC, Santamaría R, Torra R, Ambros JT, Vidau P, Torregrosa JV. Fabry Nephropathy: An Evidence-Based Narrative Review. Kidney Blood Press Res. 2018;43(2):406-421. - PubMed

Publication types

LinkOut - more resources