Hermansky-Pudlak Syndrome

Clin Chest Med. 2016 Sep;37(3):505-11. doi: 10.1016/j.ccm.2016.04.012. Epub 2016 Jun 30.

Abstract

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. HPS pulmonary fibrosis shows many of the clinical, radiologic, and histologic features found in idiopathic pulmonary fibrosis, but occurs at a younger age. Despite knowledge of the underlying genetic defects, there are currently no definitive therapeutic or preventive approaches for HPS pulmonary fibrosis other than lung transplant.

Keywords: Adaptor protein 3; Albinism; Biogenesis of lysosome-related organelle complex; Hermansky-Pudlak syndrome; Interstitial lung disease; Pulmonary fibrosis.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Albinism / complications
  • Albinism / physiopathology
  • Albinism, Oculocutaneous / etiology
  • Albinism, Oculocutaneous / physiopathology
  • Arteriovenous Malformations / etiology
  • Arteriovenous Malformations / physiopathology*
  • Blood Coagulation Disorders / etiology
  • Blood Coagulation Disorders / physiopathology*
  • Crohn Disease / etiology
  • Crohn Disease / physiopathology
  • Epistaxis / etiology
  • Epistaxis / physiopathology
  • Gastrointestinal Diseases / etiology
  • Gastrointestinal Diseases / physiopathology
  • Hemorrhagic Disorders / complications
  • Hemorrhagic Disorders / physiopathology
  • Hermanski-Pudlak Syndrome / complications
  • Hermanski-Pudlak Syndrome / physiopathology*
  • Humans
  • Hypertension, Pulmonary / etiology
  • Hypertension, Pulmonary / physiopathology*
  • Intracranial Arteriovenous Malformations / etiology
  • Intracranial Arteriovenous Malformations / physiopathology*
  • Liver Diseases / etiology
  • Liver Diseases / physiopathology
  • Pulmonary Artery / abnormalities
  • Pulmonary Fibrosis / etiology
  • Pulmonary Fibrosis / physiopathology*
  • Pulmonary Veins / abnormalities
  • Telangiectasis / etiology
  • Telangiectasis / physiopathology

Supplementary concepts

  • Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
  • Hermansky Pudlak syndrome 2