An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment

Intern Med. 2014;53(23):2705-9. doi: 10.2169/internalmedicine.53.2239. Epub 2014 Dec 1.


Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder, the most common complication of which influencing the prognosis is pulmonary fibrosis. In the present report, we describe an autopsy case of a Japanese woman with HPS. The patient was diagnosed at 50 years of age based on the presence of oculocutaneous albinism, hemorrhagic diathesis, ceroid-lipofuscin accumulation and pulmonary fibrosis. Although systemic steroids, immunosuppressants and pirfenidone were administered for pulmonary involvement, she died from respiratory failure two years later. Obtaining an early diagnosis and taking into consideration the need for lung transplantation is necessary in order to improve the prognosis of HPS. We herein report this very rare Japanese case of HPS with a review of the treatment approaches for HPS complicated with pulmonary fibrosis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adrenal Cortex Hormones / administration & dosage
  • Autopsy
  • Ceroid / metabolism
  • Drug Therapy, Combination
  • Fatal Outcome
  • Female
  • Hemorrhagic Disorders / complications
  • Hemorrhagic Disorders / diagnosis
  • Hermanski-Pudlak Syndrome / complications*
  • Hermanski-Pudlak Syndrome / diagnosis*
  • Hermanski-Pudlak Syndrome / pathology
  • Humans
  • Immunosuppressive Agents / administration & dosage
  • Lipofuscin / metabolism
  • Lung Transplantation
  • Middle Aged
  • Pulmonary Fibrosis / complications*
  • Pulmonary Fibrosis / diagnosis*
  • Pulmonary Fibrosis / drug therapy
  • Pulmonary Fibrosis / etiology
  • Pulmonary Fibrosis / pathology
  • Pyridones / administration & dosage
  • Respiratory Insufficiency / etiology*
  • Respiratory Insufficiency / pathology


  • Adrenal Cortex Hormones
  • Ceroid
  • Immunosuppressive Agents
  • Lipofuscin
  • Pyridones
  • pirfenidone