Fabry disease: recent advances in enzyme replacement therapy

Area of Science:

• Genetics and Metabolism
• Lysosomal Storage Disorders
• Rare Diseases

Background:

• Fabry disease is an X-linked inherited metabolic disorder.
• Caused by mutations in the alpha-galactosidase A gene, leading to lysosomal enzyme deficiency.
• Results in systemic accumulation of glycosphingolipids, primarily globotriaosylceramide.

Purpose of the Study:

• To review the current understanding of Fabry disease.
• To discuss the progression of glycosphingolipid deposition and its clinical manifestations.
• To explore recent advancements in therapeutic strategies, particularly enzyme replacement therapy.

Main Methods:

• Review of existing literature on Fabry disease.
• Analysis of clinical manifestations in hemizygous males and heterozygous females.
• Evaluation of current and emerging treatment options.

Main Results:

• Glycosphingolipid accumulation causes significant morbidity, including stroke, heart attack, and renal failure.
• Both males and females can be affected, with females often presenting later and with less severity.
• Enzyme replacement therapy has been validated in clinical trials and is under further investigation.

Conclusions:

• Fabry disease requires a multi-disciplinary approach for optimal patient care.
• Increasing knowledge of the disease and enzyme therapy is crucial for improving outcomes.
• Disease registries can facilitate a comprehensive understanding and management of Fabry disease.