- What is HPS?
- Diagnosing HPS
- Standard of Care
- Media Library
Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.
HPS is described by five major characteristics which may include albinism, platelet dysfunction, inflammatory bowel disease, and pulmonary fibrosis.
The current diagnosis for HPS involves a simple non standard blood test.
More in depth information about this disorder is available from other organizations and scientific journals here.
At the moment there is no one particular treatment for HPS though studies are in progress for a drug trial to treat the pulmonary fibrosis at the National Institutes of Health