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 journalArticle

45 Citations (Scopus)

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 2006

Fingerprint

Hermanski-Pudlak Syndrome
Pulmonary Fibrosis
Disease Susceptibility
Lysosomes
Genes
Oculocutaneous Albinism
Ceroid
Hemorrhage
Melanosomes
Lipofuscin
Puerto Rico
Lung
Premature Mortality
Lung Diseases
Fibrosis
Anti-Inflammatory Agents
Blood Platelets
Antioxidants

Keywords

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

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Physiology

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

Pulmonary fibrosis in Hermansky-Pudlak syndrome : A case report and review. / Pierson, Diane M.; Ionescu, Diana; Qing, Gefei; Yonan, Abdullah M.; Parkinson, Kent; Colby, Thomas C.; Leslie, Kevin.

In: Respiration, Vol. 73, No. 3, 05.2006, p. 382-395.

Research output: Contribution to journalArticle

Pierson, DM, Ionescu, D, Qing, G, Yonan, AM, Parkinson, K, Colby, TC & Leslie, K 2006, 'Pulmonary fibrosis in Hermansky-Pudlak syndrome: A case report and review', Respiration, vol. 73, no. 3, pp. 382-395. https://doi.org/10.1159/000091609
Pierson DM, Ionescu D, Qing G, Yonan AM, Parkinson K, Colby TC et al. Pulmonary fibrosis in Hermansky-Pudlak syndrome: A case report and review. Respiration. 2006 May;73(3):382-395. https://doi.org/10.1159/000091609
Pierson, Diane M. ; Ionescu, Diana ; Qing, Gefei ; Yonan, Abdullah M. ; Parkinson, Kent ; Colby, Thomas C. ; Leslie, Kevin. / Pulmonary fibrosis in Hermansky-Pudlak syndrome : A case report and review. In: Respiration. 2006 ; Vol. 73, No. 3. pp. 382-395.
@article{2a3918614409457b9c59b26731811731,
title = "Pulmonary fibrosis in Hermansky-Pudlak syndrome: A case report and review",
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.",
keywords = "Bleeding diathesis, Hermansky-Pudlak syndrome, Lung transplantation, Oculocutaneous albinism, Pulmonary fibrosis",
author = "Pierson, {Diane M.} and Diana Ionescu and Gefei Qing and Yonan, {Abdullah M.} and Kent Parkinson and Colby, {Thomas C.} and Kevin Leslie",
year = "2006",
month = "5",
doi = "10.1159/000091609",
language = "English (US)",
volume = "73",
pages = "382--395",
journal = "Respiration; international review of thoracic diseases",
issn = "0025-7931",
publisher = "S. Karger AG",
number = "3",

}

TY - JOUR

T1 - Pulmonary fibrosis in Hermansky-Pudlak syndrome

T2 - A case report and review

AU - Pierson, Diane M.

AU - Ionescu, Diana

AU - Qing, Gefei

AU - Yonan, Abdullah M.

AU - Parkinson, Kent

AU - Colby, Thomas C.

AU - Leslie, Kevin

PY - 2006/5

Y1 - 2006/5

N2 - 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.

AB - 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.

KW - Bleeding diathesis

KW - Hermansky-Pudlak syndrome

KW - Lung transplantation

KW - Oculocutaneous albinism

KW - Pulmonary fibrosis

UR - http://www.scopus.com/inward/record.url?scp=33646574258&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33646574258&partnerID=8YFLogxK

U2 - 10.1159/000091609

DO - 10.1159/000091609

M3 - Article

C2 - 16490934

AN - SCOPUS:33646574258

VL - 73

SP - 382

EP - 395

JO - Respiration; international review of thoracic diseases

JF - Respiration; international review of thoracic diseases

SN - 0025-7931

IS - 3

ER -