57 top medical experts on Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells across 4 countries and 4 U.S. states, including 13 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells: Hermansky-Pudlak syndrome (HPS) affects multiple body systems and includes bleeding and visual problems, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Other symptoms may include immune problems, lung scarring (pulmonary fibrosis), and colitis . Symptoms of pulmonary fibrosis may get worse over time, and people with HPS are at increased risk for skin cancer . There are ten types of HPS each caused by a different non-working gene . This condition is inherited in an autosomal recessive fashion. HPS is diagnosed based on the symptoms and confirmed by genetic testing . Treatment is based on managing the symptoms.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Support Organizations
- Hermansky-Pudlak Syndrome Network, Inc.
1 South Road
Oyster Bay, NY 11771-1905
Toll-free: 800-789-9477
Fax: 516-624-0640
E-mail: info@hpsnetwork.org
Website: http://www.hpsnetwork.org
- Platelet Disorder Support Association
8751 Brecksville Road
Suite 150
Cleveland, OH 44141
Toll-free: 87-PLATELET (1-877-528-3538)
Telephone: 440-746-9003
Fax: 844-270-1277
E-mail: pdsa@pdsa.org
Website: http://www.pdsa.org/
- The National Organization of Albinism and Hypopigmentation (NOAH)
PO Box 959
East Hampstead, NH 03826-0959
Toll-free: 800-473-2310;
Telephone: 603-887-2310
E-mail: noah@albinism.org
Website: http://www.albinism.org
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- Synonyms: Delta storage pool disease
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