What is Fabry Disease?

 

Fabry disease (FD) is a devastating, progressive, inherited condition caused by lysosomal dysfunction linked to chromosome X and mutations in the GLA gene located in chromosome Xq22.1 which encodes the alpha-galactosidase A (AGA) enzyme.

It is a multi-systemic and life-threatening condition which is one of the most common lysosomal storage diseases after the Gaucher Disease. It is characterized by specific neurological, cutaneous, renal, cardiovascular, cochleovestibular and cerebrovascular manifestations.

The primary disease process starts in infancy, or even as early as in the fetal stage of development. In FD, lysosomal storage and cellular dysfunction are believed to trigger a cascade of events including cellular death, compromised energy metabolism, small vessel injury, K(Ca) channel dysfunction in endothelial cells, oxidative stress, impaired autophagosome maturation, tissue ischemia and, importantly, development of irreversible cardiac and renal tissue fibrosis.

About Fabry Disease Treatment

Fabry Disease is classified as the Type 1 classic and Type 2 later-onset on the basis of phenotype of the disease. Both sub-types result in renal failure, and/or cardiac disease, and early death. Type 2 later-onset Fabry Disease is more frequent as compared to Type 1 classic Fabry Disease.

Fabry disease is more prevalent worldwide than previously reported, and is not limited to any one particular ethnicity. If data from newborn screenings are to be considered, the prevalence would be closer to one in 3,000 to 7,000 men.

Despite all these available treatments, Fabry disease (FD) is among the most difficult to evaluate and manage. Clinicians are frequently challenged to differentiate symptoms related to disease activity as the primary disease process starts in infancy, or even as early as in the fetal stage of development. Additionally, the presence of multiple comorbidities, may influence the severity and further complicate the evaluation process. There is vital need for developing FD-specific outcome measures that encompass the spectrum of organ system involvement and are sensitive to clinically meaningful change.

Source:- What is Fabry Disease