title: Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
abstract: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. More than 50% of cases worldwide are diagnosed on the Caribbean island of Puerto Rico. Genetic testing plays a growing role in diagnosis; however, not all patients with HPS have identified genetic mutations. In Puerto Rico, patients with HPS are often identified shortly after birth by their albinism, although the degree of hypopigmentation is highly variable. Ten subtypes have been described. Patients with HPS-1, HPS-2, and HPS-4 tend to develop pulmonary fibrosis in Puerto Rico; 100% of patients with HPS-1 develop HPS-PF. HPS-PF and idiopathic pulmonary fibrosis are considered similar entities (albeit with distinct causes) because both can show similar histological disease patterns. However, in contrast to idiopathic pulmonary fibrosis, HPS-PF manifests much earlier, often at 30-40 years of age. The progression of HPS-PF is characterized by the development of dyspnea and increasingly debilitating hypoxemia. No therapeutic interventions are currently approved by the U.S. Food and Drug Administration for the treatment of HPS and HPS-PF. However, the approval of two new antifibrotic drugs, pirfenidone and nintedanib, has prompted new interest in identifying drugs capable of reversing or halting the progression of HPS-PF. Thus, lung transplantation remains the only potentially life-prolonging treatment. At present, two clinical trials are recruiting patients with HPS-PF to identify biomarkers for disease progression. Advances in the diagnosis and management of these patients will require the establishment of multidisciplinary centers of excellence staffed by experts in this disease.
authors.affiliation: 1 Division of Pulmonary, Critical Care and Sleep Disorders Medicine, Department of Medicine, and Department of Pharmacology and Toxicology, University of Louisville School of Medicine, Louisville, Kentucky.
authors.forename: Glenn W
authors.initials: GW
authors.lastname: Vicary
authors.affiliation: 2 Department of Public Health, Ponce Health Sciences University, Ponce, Puerto Rico.
authors.forename: Yeidyly
authors.initials: Y
authors.lastname: Vergne
authors.affiliation: 2 Department of Public Health, Ponce Health Sciences University, Ponce, Puerto Rico.
authors.forename: Alberto
authors.initials: A
authors.lastname: Santiago-Cornier
authors.affiliation: 3 Division of Allergy, Immunology, and Pulmonary Medicine, Department of Pediatrics, and Division of Allergy, Pulmonary, and Critical Care Medicine, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee; and.
authors.forename: Lisa R
authors.initials: LR
authors.lastname: Young
authors.affiliation: 1 Division of Pulmonary, Critical Care and Sleep Disorders Medicine, Department of Medicine, and Department of Pharmacology and Toxicology, University of Louisville School of Medicine, Louisville, Kentucky.|4 Louisville Robley Rex Veterans Affairs Medical Center, Louisville, Kentucky.
authors.forename: Jesse
authors.initials: J
authors.lastname: Roman
mesh_terms: D000818:Animals; D015415:Biomarkers; D018450:Disease Progression; D022861:Hermanski-Pudlak Syndrome / Q000150:complications* / Q000208:ethnology*; D006630:Hispanic or Latino; D006801:Humans; D007211:Indoles / Q000627:therapeutic use; D016040:Lung Transplantation; D008565:Membrane Proteins / Q000235:genetics; D051379:Mice; D009154:Mutation; D011647:Puerto Rico / Q000208:ethnology; D011658:Pulmonary Fibrosis / Q000628:therapy*; D011728:Pyridones / Q000627:therapeutic use; D016032:Randomized Controlled Trials as Topic; D014057:Tomography, X-Ray Computed
chemical_list: D015415:Biomarkers; C102160:HPS1 protein, human; D007211:Indoles; D008565:Membrane Proteins; D011728:Pyridones; C093844:pirfenidone; C530716:nintedanib
keywords: Hermansky–Pudlak syndrome; genetics; oculocutaneous albinism; pulmonary fibrosis