Hermansky-Pudlak syndrome

Disease Overview

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.[10422][15631][15634]

Synonyms

• HPS
• Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
• Hermansky Pudlak syndrome