Pulmonary fibrosis in Hermansky-Pudlak syndrome: A case report and review

Diane M. Pierson, Diana Ionescu, Gefei Qing, Abdullah M. Yonan, Kent Parkinson, Thomas C. Colby, Kevin Leslie

Research output: Contribution to journalReview article

46 Scopus citations

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare heterogeneously inherited autosomal recessive group of disorders presenting with oculocutaneous albinism, bleeding diathesis and pulmonary disease. HPS is thought to occur as a consequence of disturbed formation or trafficking of intracellular vesicles, most importantly, melanosomes, platelet dense granules and lysosomes. The latter finding, in particular, contributes much to the morbidity associated with the disease, as ceroid lipofuscin deposits in lysosomes affect many organ systems. This is especially problematic in the lungs where it is often associated with pulmonary fibrosis and premature death. Currently, there are 7 known HPS genes in humans. In the mouse, at least 16 known HPS genes produce HPS-mutant phenotypes. The HPS gene mutation is considered to be one of the most prevalent single-gene disorders in northwest Puerto Rico, home to the largest cohort of known patients. In HPS, interventions addressing the bleeding diathesis and pulmonary fibrosis are often disappointingly ineffectual. Pirfenidone, a novel compound with documented anti-inflammatory, antioxidant and antifibrotic effects, appears to hold promise in delaying or preventing fibrosis. To date, there has been one successful lung transplant performed on a patient with HPS. We present a patient with HPS and review the current literature on our understanding of this rare disorder.

Original languageEnglish (US)
Pages (from-to)382-395
Number of pages14
JournalRespiration
Volume73
Issue number3
DOIs
StatePublished - May 1 2006

Keywords

  • Bleeding diathesis
  • Hermansky-Pudlak syndrome
  • Lung transplantation
  • Oculocutaneous albinism
  • Pulmonary fibrosis

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Fingerprint Dive into the research topics of 'Pulmonary fibrosis in Hermansky-Pudlak syndrome: A case report and review'. Together they form a unique fingerprint.

  • Cite this

    Pierson, D. M., Ionescu, D., Qing, G., Yonan, A. M., Parkinson, K., Colby, T. C., & Leslie, K. (2006). Pulmonary fibrosis in Hermansky-Pudlak syndrome: A case report and review. Respiration, 73(3), 382-395. https://doi.org/10.1159/000091609