Estimated cases in the United States based on currently published statistics:  According to the census bureau's population estimates and the estimated prevalence of Fabry disease, there are approximately 3,800 males with Fabry disease in the U.S.  Based on Hardy-Weinburg principles of genetic frequency and the estimated male population, there may be an estimated 7,600 females that carry the Fabry gene but an unknown number of  females affected (having significant symptoms) by the disease. These estimates put the number of individuals carrying the Fabry disease gene in the U.S. at over 11,000 according to currently published statistics.

However, based on newborn screening studies in two countries, Italy and Taiwan, we believe there are really about 50,000 people in the U.S. with Fabry disease including classic and late-onset forms of the disease. Medical literature is littered with references to the unrecognized and undiagnosed nature of Fabry disease. It is tragic that such a low number of people with Fabry disease have been recognized, diagnosed and provided the opportunity for treatment. Physican and family education is critical to enable individuals unknowingly living with Fabry disease to live better and longer lives. See the population calculations to support this number.

Note on rare diseases: According to the National Institutes of Health Office of Rare Diseases an orphan or rare disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.  There are reportedly more than 7,000 known rare genetic disorders.

A note about prevalence and incidence:  Prevalence usually refers to the estimated number of people who are affected by a disease at any given time.  Incidence usually refers to the annual rate at which a disease is diagnosed, or the number of new disease cases that are diagnosed every year. You will become aware when viewing Fabry disease information on other websites that the rate of occurrence for Fabry disease, 1 in 40,000 males, is referred to as both an incidence rate and prevalence even though the terms have different definitions.

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As a IRS 501(c)(3) non-profit support organization we rely on donations from organizations and individuals to provide meaningful support and assistance programs to people/families with Fabry disease. Please give generously!  

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