Hermansky-Pudlak Syndrome, Type 1 (HPS1)

Hermansky-Pudlak syndrome, type 1 is an autosomal recessive disorder that is caused by pathogenic variants in the gene HPS1. It is a rare disease worldwide, but is prevalent in Puerto Rican individuals due to the presence of a founder mutation. The disease is characterized by the presence of light-colored skin and hair (albinism) and reduced vision. Patients also have a susceptibility to prolonged bleeding caused by abnormalities in the platelets, which normally function in the clotting process. Most patients develop pulmonary fibrosis, which usually begins in the patient’s early 30s and can be fatal within a decade. About 15% of patients will develop Crohns disease. Life expectancy is usually in the patients 40s or 50s due to progressive lung disease. It is not currently possible to predict the severity of symptoms based on the variants inherited.

For information about carrier frequency and residual risk, please see the residual risk table.