Monday, April 21, 2014

Frequently Asked Questions (7)

Monday, 23 January 2012 01:30

Fabry Disease Skin Symptom Questions

Written by

Login

 
Member Area. Access denied.

Please sign in/register to gain access to member areas

 

Username:
Password:
Remember password
Friday, 13 January 2012 14:09

How common is Fabry disease?

Written by


How common is Fabry disease?

Fabry disease is a rare genetic disorder.  The most common U.S. statistics referenced in published literature indicates that Fabry disease is present in 1 in 40,000 to 1 in 50,000 males.  Due to the greater complexity of determining the occurrence in females and because we are not aware of any published studies, the occurrence in females is not specifically stated.  However, the population of known affected females is rapidly increasing over original expectations due to better understanding of the random nature of disease manifestations in females.
 
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.
Monday, 19 December 2011 02:34

Fabry Disease Renal (Kidney) Symptom Questions

Written by

 

 

Login

 

 
Member Area. Access denied.

Please sign in/register to gain access to member areas

 

Username:
Password:
Remember password
Monday, 19 December 2011 02:33

Fabry Disease Cardiac Symptom-Questions

Written by

Login

 

 
Member Area. Access denied.

Please sign in/register to gain access to member areas

 

Username:
Password:
Remember password
Monday, 19 December 2011 02:32

Fabry Disease Gastrointestinal (GI) Symptom Questions

Written by

Login

 

 
Member Area. Access denied.

Please sign in/register to gain access to member areas

 

Username:
Password:
Remember password
Monday, 19 December 2011 02:30

Fabry Disease Audiology Symptom Questions

Written by

 

 

Login

 

 
Member Area. Access denied.

Please sign in/register to gain access to member areas

 

Username:
Password:
Remember password
Monday, 19 December 2011 02:28

Fabry Disease Neurology Symptom Questions

Written by

Login

 
Member Area. Access denied.

Please sign in/register to gain access to member areas

 

Username:
Password:
Remember password

Connect With Us

Latest Tweets

We need your help!

  • 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!  

DonateNow

  • Thank you to our corporate and foundation sponsors as well as our many individual donors. Contributions of all sizes add up to make a tremendous difference. Read more about ways to support people with Fabry disease.

Do You Have Questions?

question-things-125

Visit our Frequently Asked Questions page to read about common questions related to Fabry disease.

Join the Fight

Join the fight against Fabry disease! Make your voice count to create positive change for people with Fabry disease and our families.

Read More...

Founder's Corner

Greetings everyone! We've come a long way and I'd like to share a few things with you from time to time. Thanks for listening (reading) and for your input and participation. I remain very fortunate and proud to serve the Fabry community. June 2012.  Founder and President, Jerry Walter

Read More...

Visit Jerry's Blog Today!