Anderson-Fabry Disease: Clinical Manifestations of Disease in Female Heterozygotes

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2002 Jan 24

PMID 11804208

Citations 67

Authors

C Whybra

C Kampmann

I Willers

J Davies

B Winchester

J Kriegsmann

K Bruhl

A Gal

S Bunge

M Beck

Affiliations

Soon will be listed here.

Abstract

Anderson-Fabry disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal alpha-galactosidase A. Clinical manifestations of Anderson-Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson-Fabry disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular disease, and gastrointestinal and heart problems. It therefore appears that Anderson-Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant disease.

Citing Articles

confocal microscopic study of cornea verticillata and limbus deposits in patients with Fabry disease.

Zhou X, Zhao Y, Li Y, Yuan Y, Yan X, Zhang W Front Med (Lausanne). 2025; 12:1541510.

PMID: 39975669 PMC: 11836033. DOI: 10.3389/fmed.2025.1541510.

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.

Anania M, Pieruzzi F, Giacalone I, Trezzi B, Marsana E, Roggero L Int J Mol Sci. 2025; 26(2).

PMID: 39859188 PMC: 11764669. DOI: 10.3390/ijms26020473.

The Identification of a Novel Pathogenic Variant of the Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.

Giacalone I, Ruzzi L, Anania M, Cuonzo M, Marsana E, Mastrippolito S Int J Mol Sci. 2025; 26(2.

PMID: 39859185 PMC: 11764866. DOI: 10.3390/ijms26020470.

Role of standard echocardiography in Anderson-Fabry disease.

Conte M, Cioffi G, Romeo M, Petraglia L, Parente E, Poggio P Front Cardiovasc Med. 2024; 11:1467815.

PMID: 39526187 PMC: 11544540. DOI: 10.3389/fcvm.2024.1467815.

Echocardiography in Anderson-Fabry Disease.

Lillo R, Pieroni M, Camporeale A, Ciabatti M, Lombardo A, Massetti M Rev Cardiovasc Med. 2024; 23(6):201.

PMID: 39077168 PMC: 11274060. DOI: 10.31083/j.rcm2306201.

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