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 alphagalactosidase 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.
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.
What are Fabry Disease Epidemiology facts?
As per DelveInsight estimates, total prevalent population of Fabry disease (FD) in the 7MM was found to be 16,691 in 2017. Among all the countries, the estimates show higher prevalent population of Fabry disease (FD) in the United States with 7,785 cases in 2017.
· Among the EU5 countries, UK had the highest prevalent population of Fabry disease, followed by Italy in 2017. On the other hand, Spain had the lowest prevalent population.
· As per DelveInsight estimates, among the 7MM, Japan had the lowest prevalent population of Fabry disease in 2017.
· Females are more prone to FD than males in United States. This trend is expected to increase during the study period and as per DelveInsight’s analysts assessments, the overall cases of FD in both the genders is subjected to increase in the coming years.
Source:- Fabry Disease Treatment
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