Next Article in Journal
Molecular Basis and Clinical Management of Gaucher Disease
Previous Article in Journal
Molecular Basis, Diagnosis and Clinical Management of Mucopolysaccharidoses
Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on as a courtesy and upon agreement with PAGEPress.
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:

Anderson-Fabry, the Histrionic Disease: From Genetics to Clinical Management

Franco Cecchi
Benedetta Tomberli
1,2,* and
Amelia Morrone
Department of Clinical and Experimental Medicine, Italy
Department of Heart and Vessels, Referral Center for Cardiomyopathies, Careggi Hospital, Italy
Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Italy
Molecular and Cell Biology Laboratory, Paediatric Neurology Unit, Neuroscience Department, Meyer Children’s Hospital, Florence, Italy
Author to whom correspondence should be addressed.
Cardiogenetics 2013, 3(s1), e3;
Submission received: 14 November 2012 / Revised: 21 January 2013 / Accepted: 4 February 2013 / Published: 27 February 2013


Anderson-Fabry disease (AFD) is an Xlinked lysosomal storage disorder of glycosphingolipid catabolism, due to deficiency or absence of a galactosidase A (α-gal A) enzyme. The disease may affect males and females, the latter with an average 10 years delay. Metabolites storage (mostly Gb3 and lyso-Gb3) leads to progressive cellular and multiorgan dysfunction, with either early and late onset variable clinical manifestations that usually reduce quality of life and life expectancy. Heart and kidney failure, stroke and sudden death are the most devastating complications. AFD is always been considered a very rare disease, although new epidemiologic data, based on newborn screening, showed that AFD prevalence is probably underestimated and much higher than previously reported, especially for late-onset atypical phenotypes. Currently, the diagnosis may be easier and simpler by evaluating α-gal A enzyme activity and genetic analysis for GLA gene mutations on dried blood spot. While a marked α-gal A deficiency leads to diagnosis of AFD in hemizygous males, the molecular analysis is mandatory in heterozygous females. However, referral to a center with an expert multidisciplinary team is highly advisable, in order to ensure careful management and treatment of patients, based also on accurate molecular and biochemical data interpretation. While long-term efficacy of enzyme replacement therapy (ERT) in advanced stage is still debated, increasing evidence shows greater efficacy of early treatment initiation. Concomitant, organ-specific therapy is also needed. New treatment approaches, such as chemical chaperone therapy, alone or in combination with ERT, are currently under investigation. The present review illustrates the major features of the disease, focusing also on biochemical and genetic aspects.
Keywords: Anderson-Fabry; heart failure; renal failure; stroke; genetics; enzyme replacement therapy Anderson-Fabry; heart failure; renal failure; stroke; genetics; enzyme replacement therapy

Share and Cite

MDPI and ACS Style

Cecchi, F.; Tomberli, B.; Morrone, A. Anderson-Fabry, the Histrionic Disease: From Genetics to Clinical Management. Cardiogenetics 2013, 3, e3.

AMA Style

Cecchi F, Tomberli B, Morrone A. Anderson-Fabry, the Histrionic Disease: From Genetics to Clinical Management. Cardiogenetics. 2013; 3(s1):e3.

Chicago/Turabian Style

Cecchi, Franco, Benedetta Tomberli, and Amelia Morrone. 2013. "Anderson-Fabry, the Histrionic Disease: From Genetics to Clinical Management" Cardiogenetics 3, no. s1: e3.

Article Metrics

Back to TopTop