Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome, often shortened to HPS, is an extremely rare inherited disorder passed on in an autosomal recessive pattern. It combines three features: oculocutaneous albinism, meaning reduced pigment in the skin, hair and eyes; bleeding problems caused by an abnormality of the platelets known as a storage pool defect; and the buildup of an abnormal fat and protein compound called ceroid lipofuscin inside lysosomes. Worldwide it is thought to affect about one person in 500,000, but it is far more common among people of Puerto Rican descent, where prevalence is cited at about one in 1,800, and much of the clinical research has been done in Puerto Rico. Clinicians recognize eight classic forms, distinguished by which gene carries the causative mutation. The condition is named for the Czech physicians František Heřmanský and Pavel Pudlák.