Hermansky-Pudlak Syndrome Week

HomePatientsLung Disease Week at the ATS2018 ▶ Hermansky-Pudlak Syndrome Week
Rare Lung Disease Week

Hermansky Pudlak Syndrome

Welcome Message

Welcome to the Hermansky-Pudlak Syndrome (HPS) Week at the ATS.  HPS is a rare autosomal recessive genetic disorder characterized by albinism, bleeding tendency due to platelet dysfunction, and colitis, among other problems.  In many cases, HPS is also associated with pulmonary fibrosis which can occur in young patients.  Although more than 50% of cases worldwide are diagnosed in the Caribbean island of Puerto Rico, many patients with HPS live in the US as well as in other countries around the world.  Up to 10 genetic mutations have been linked to the development of HPS leading to impairments in several biological processes.  Researchers are investigating how these mutations lead to the syndrome.  However, to date, there are limited interventions addressing pulmonary fibrosis in the setting of HPS, which is one of the most significant causes of morbidity and mortality in this condition.   The ATS is partnering with the HPS Network to raise awareness about HPS and, importantly, to fund research that might lead to a better understanding of the disease and its treatment.

Jesse Roman

Jesse Roman, MD
CEO, Jane & Leonard Korman Respiratory Institute collaboration of Jefferson Health and National Jewish Health Philadelphia, PA

Appell

Donna Appell, RN
Founder and CEO
Hermansky-Pudlak Syndrome Network

ATS HPS Partner- Hermansky-Pudlak Syndrome Network

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The mission of the Hermansky-Pudlak Syndrome Network is to gather and disseminate information, to promote awareness and research, and to provide support to our members. This keeps us actively developing educational materials, pamphlets, slides, and articles to help both families and professionals understand the needs created by this syndrome. We maintain a client registry to assist with networking individuals, with each other and with medical research.