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Fabry Disease, a Complex Pathology Not Easy to Diagnose

Institute of Biomedicine and Molecular Immunology A. Monroy, Italian National Research Council, Palermo
Department of Medical Biopathology and Biotechnology, University of Palermo
Department of Neurology, Guzzardi Hospital, Vittoria (RG), Italy
Author to whom correspondence should be addressed.
Cardiogenetics 2015, 5(1), 5612;
Submission received: 30 October 2015 / Revised: 27 November 2015 / Accepted: 29 November 2015 / Published: 28 December 2015


Fabry disease is a multisystemic lysosomal storage disorder, inherited in an X-linked manner. It is a defect of metabolism of the glycosphingolipids, due to the reduction or absence of the activity of lysosomal enzyme α-galactosidase A. This reduction of activity causes the storage of globotriaosylceramide and derivatives in the lysosomes, triggering a cascade of cellular events, mainly in vascular endothelium. These events are the responsible for the systemic clinical manifestations and the renal, cardiac and cerebrovascular complications, or a combination of them. The symptomatology can lead to the premature death of patient between the fourth or fifth decade of life. The first symptoms can occur at different ages, generally in childhood, with different severity and course. Fabry disease is suspected on the basis of clinical and anamnestic-familial data, and it is confirmed by enzymatic and genetic assays. However, Fabry disease could be a pathology more complex than previously considered, and the diagnostic tests that are currently in use could be not always sufficient to confirm the clinical diagnosis. Probably, other factors could be also involved in the onset of symptomatology. In the last years, the knowledge of the disease is considerably increased but other studies are necessary to make a prompt and reliable diagnosis. An early diagnosis of Fabry disease is essential for the beginning of the enzyme replacement therapy, which can contribute to arrest its progression and improve the quality of life of patients.
Keywords: Anderson-Fabry disease; α-galactosidase A; GLA gene Anderson-Fabry disease; α-galactosidase A; GLA gene

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MDPI and ACS Style

Colomba, P.; Scalia, S.; Cammarata, G.; Zizzo, C.; Francofonte, D.; Savica, V.; Alessandro, R.; Iemolo, F.; Duro, G. Fabry Disease, a Complex Pathology Not Easy to Diagnose. Cardiogenetics 2015, 5, 5612.

AMA Style

Colomba P, Scalia S, Cammarata G, Zizzo C, Francofonte D, Savica V, Alessandro R, Iemolo F, Duro G. Fabry Disease, a Complex Pathology Not Easy to Diagnose. Cardiogenetics. 2015; 5(1):5612.

Chicago/Turabian Style

Colomba, Paolo, Simone Scalia, Giuseppe Cammarata, Carmela Zizzo, Daniele Francofonte, Vincenzo Savica, Riccardo Alessandro, Francesco Iemolo, and Giovanni Duro. 2015. "Fabry Disease, a Complex Pathology Not Easy to Diagnose" Cardiogenetics 5, no. 1: 5612.

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