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Published on: August 20, 2019
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Anderson-Fabry Disease: From Endothelial Dysfunction to Emerging Therapies
Cosimo A Stamerra1, Rita Del Pinto1, Paolo di Giosia1
1University of L'Aquila, Department of Life, Health and Environmental Sciences, Building Delta 6-San Salvatore Hospital, Via Vetoio, Coppito, L'Aquila 67100, Italy.
Summary
Anderson-Fabry disease is a rare genetic disorder causing progressive organ damage due to alpha-galactosidase A deficiency. Current therapies improve quality of life, with novel treatments on the horizon.
Area of Science:
- Genetics
- Metabolic Disorders
- Neurology
Background:
- Anderson-Fabry disease is a rare, X-linked, progressive lysosomal storage disorder.
- It results from alpha-galactosidase A deficiency, leading to glycosphingolipid accumulation and multiorgan damage.
- Key manifestations include autonomic neuropathy, renal insufficiency, heart disease, and stroke.
Purpose of the Study:
- To review the clinical presentation and molecular basis of Anderson-Fabry disease.
- To discuss current understanding of disease mechanisms.
- To provide updates on available and emerging therapeutic strategies.
Main Methods:
- Literature review of clinical and molecular aspects of Anderson-Fabry disease.
- Analysis of current treatment options, including enzyme replacement and chaperone therapies.
- Exploration of novel therapeutic approaches such as substrate reduction, mRNA-based, and gene therapies.
Main Results:
- The review details the characteristic symptoms and progressive nature of Anderson-Fabry disease.
- It highlights the link between enzyme deficiency, glycosphingolipid accumulation, and organ damage.
- Current therapies demonstrate significant improvements in patient quality and length of life.
Conclusions:
- Anderson-Fabry disease is a serious condition requiring comprehensive management.
- Enzyme replacement and chaperone therapies offer substantial benefits.
- Promising new therapies are under development, offering hope for improved patient outcomes.
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