Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.

In some genetic types of HPS there is a lysosomal accumulation of ceriod lipofusion.  In other words, there is accumulation in the cells of a substance presently known as “ceriod”.  Ceroid is the name given to this substance because it means “wax like”.  In some individuals with HPS, ceroid accumulation may be associated with inflammatory bowel disease, pulmonary fibrosis, and kidney disease.

The severity of HPS ranges from very mild with few symptoms to severe and disabling.  Since HPS is an autosomal recessive disorder, both parents are carriers of the abnormal gene.