Fabry's disease

Abstract

Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in alpha-galactosidase A. The consequent abnormal accumulation of glycosphingolipids results in several clinical signs and symptoms and substantial morbidity and mortality. This review covers all basic aspects of the disease such as epidemiology, pathophysiology, clinical presentation by systems, diagnosis, management, prevention, and repercussions on quality of life. With the development of enzyme replacement therapy in the past few years, early initiation of treatment is key for improvement in major affected organs with decreased cardiac mass and stabilisation of kidney function, and improvement in neuropathic pain, sweating, gastrointestinal symptoms, hearing loss, and pulmonary symptoms. However, treatment of individual symptoms in addition to enzyme replacement therapy seems to be needed for many patients, especially those who have had some degree of organ dysfunction. Additional data are needed to document long-term treatment outcomes.