Hermansky-Pudlak Syndrome

HomePatientsLung Disease Week at the ATS2019 ▶ Hermansky-Pudlak Syndrome
Hermansky Pudlak Syndrome Week

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Welcome Message

Welcome to the Hermansky-Pudlak Syndrome (HPS) Week at the ATS.  HPS is a rare genetic disorder that has several clinical features including albinism (abnormally light coloring of the skin, eyes, and hair) and easy bruising and bleeding due to abnormal platelet function. Some people with HPS may also experience inflammation in the colon (colitis). In many young to middle age adults, HPS is associated with scarring in the lung or pulmonary fibrosis. Types 1, 2, and 4 are associated with the development of pulmonary fibrosis. Lung disease due to HPS is thought to be rare in children. There are 10 different forms of the disease that have been described to date and each are due to different mutations.  Researchers are actively investigating how HPS mutations result in disease in order to find more targeted treatments for this disorder.   Despite this, care is largely supportive.  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.

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Jay K. Kolls, MD
Professor of Medicine and Pediatrics
John W Deming Endowed Chair in Internal Medicine
Director, Center for Translational Research in Infection and Inflammation Tulane School of Medicine

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Lisa R. Young, MD
Associate Professor of Pediatrics, Medicine, Cell Biology
Vanderbilt University School of Medicine

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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.

Last Reviewed: April 2019