Wednesday, March 30, 2011
1,000th person added to the Hermansky-Pudlak Syndrome Network’s patient registry
Oyster Bay, NY - In March the Hermansky-Pudlak Syndrome Network (HPS Network) added the 1,000th person to its registry of patients with Hermansky-Pudlak Syndrome. The Network, founded by Donna Appell, started its registry in 1992 and since then has added, on average, a family and a half a week.
Patients on the registry come from all over the world and represent all known types of HPS, as well as a few for whom an HPS gene has not yet been found.
Registry participants are invited to list contact information as well as basic medical history. They are asked to self report any significant changes to their health status.
Hermansky-Pudlak Syndrome is a rare form of albinism that causes decreased visual acuity and a bleeding disorder that can vary from mild to severe. Depending on the gene involved, the syndrome can also cause digestive problems resembling Crohn’s disease and/or pulmonary fibrosis. While HPS occurs all over the world, it is one of the most common genetic disorders among people of Puerto Rican ancestry.
The HPS Network is a non-profit, 501(c)3 organization founded in 1992 and incorporated in 1995. The Network supports families affected by Hermansky-Pudlak Syndrome by providing educational materials, a toll-free number to call with questions, an active online community and annual conferences. The Network also works to support HPS research. To learn more, visit: www.hpsnetwork.org.