Hermansky Pudlak Syndrome Associated Pulmonary Fibrosis

Hermansky-Pudlak syndrome (HPS) was first described by Dr. Frantisek Hermansky and Dr. Paulus Pudlak in 1959. HPS is relatively common in Puerto Rico, in the north-western region of the island. Other regions where HPS was reported include India, Japan, the United Kingdom and Western Europe. HPS is a rare autosomal recessive genetic disorder associated with mutations in nine distinct HPS gene subtypes, characterized by constellation of findings such as oculocutaneous albinism, bleeding diathesis, interstitial pulmonary fibrosis, granulomatous colitis, neutropenia, and rarely renal failure and cardiomyopathy. The gravest complication of the syndrome is interstitial lung disease leading to irrevocable pulmonary fibrosis. HPS-1, HPS-2 and HPS-3 subtypes are associated with pulmonary fibrosis. We report a rare case of HPS in a 43 year old female associated with pulmonary fibrosis (PF).