Understanding Fabry's Disease

Fabry's disease is an X-linked lysosomal disorder caused by a deficiency of the enzyme alpha-galactosidase, leading to the accumulation of specific lipids in various organs, including the heart. This accumulation can result in significant complications, notably cardiomyopathy, which drastically reduces life expectancy if untreated. Effective management options have emerged since 2001, primarily through enzyme replacement therapies that either require subcutaneous injections or intravenous administration. The necessity for early diagnosis and timely initiation of these therapies is paramount in preventing long-term cardiac damage and improving overall patient outcomes.