An intractable case of Hermansky-Pudlak syndrome

Intern Med. 2014;53(22):2629-34. doi: 10.2169/internalmedicine.53.2446. Epub 2014 Nov 15.

Abstract

A 52-year-old Japanese man with congenital amblyopia and oculocutaneous albinism was admitted to our hospital. Chest CT showed reticular opacities and traction bronchiectasis without honeycombing. Specimens obtained by a video-assisted thoracoscopic surgery showed patchy chronic fibrotic lesions. We diagnosed him with Hermansky-Pudlak syndrome (HPS). A mutation in the HPS1 gene was detected, and the diagnosis was confirmed. The patient was treated with prednisolone, pirfenidone, and azathioprine, but he nevertheless died within four months. Autopsy lung specimens showed diffuse alveolar damage suggesting comparatively rapid deterioration, although this presentation was not typical of an acute exacerbation. These pathological changes may be a possible progression pattern in HPS patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autopsy
  • Hermanski-Pudlak Syndrome / diagnosis*
  • Hermanski-Pudlak Syndrome / drug therapy
  • Hermanski-Pudlak Syndrome / pathology*
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Lung / pathology
  • Male
  • Membrane Proteins
  • Middle Aged
  • Mutation
  • Thoracic Surgery, Video-Assisted
  • Tomography, X-Ray Computed

Substances

  • HPS1 protein, human
  • Immunosuppressive Agents
  • Membrane Proteins