Hermansky-Pudlak Syndrome

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder associated with oculocutaneous albinism, platelet storage pool disorder, and bleeding diathesis, and in certain subtypes, progressive fibrosing interstitial lung disease (ILD), inflammatory bowel disease, and immunodeficiency. Disease manifestations can be variable, and early recognition and diagnosis are needed to prevent complications. Progressive pulmonary fibrosis and respiratory failure are the leading cause of mortality in patients with HPS-1 and HPS-4. For these patients, surveillance for ILD, monitoring of lung function, treatment for pulmonary fibrosis, and early referral to lung transplantation centers are critical.