Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder, with a prevalence of 1 to 9 in 1,000,000 individuals worldwide. It is characterized by albinism, visual impairment, and a platelet dysfunction that results in prolonged bleeding.
Some people with HPS may develop other complications depending on the HPS gene involved; these include, inflammatory bowel disease, pulmonary fibrosis, and kidney disease.
Currently there are 11 known types of HPS. The future might also reveal other unidentified HPS gene types. HPS can range from mild with few symptoms to very severe and disabling. Since HPS is an autosomal recessive disorder, both parents must be carriers of the abnormal gene.