Abstract 2820 Absence of HPS1 protein results in an alteration in the cellular lipid content of Hermansky-Pudlak Syndrome patients

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which the biogenesis of lysosomal-related organelles (LRO) is impaired. Clinical manifestations include a bleeding diathesis, oculocutaneous albinism (tyrosinase positive), inflammatory bowel disease, and pulmonary fibrosis. Currently, there are 11 subtypes of HPS arising from variants in genes that encode 11 proteins that belong to various biogenesis of lysosome-related organelles complexes (BLOCs). The HPS subtypes that can develop pulmonary fibrosis are HPS subtype 1 (HPS-1), HPS subtype 2 (HPS-2), and HPS subtype 4 (HPS-4).