Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

Vol. 73, No. 3, 2006

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Review

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome
A Case Report and Review
Diane M. Pierson^c, Diana Ionescu^b, Gefei Qing^a, Abdullah M. Yonan^d, Kent Parkinson^e, Thomas C. Colby^f, Kevin Leslie^f

^aDepartment of Pathology, University of Manitoba, Winnipeg, and
^bDepartment of Pathology, University of British Columbia, Vancouver General Hospital, Vancouver, Canada;
^cAnatomical Pathology, Mayo Clinic, Rochester, Minn., Departments of
^dPulmonary Medicine and
^ePathology, Banner Thunderbird Medical Center, Glendale, Ariz., and
^fAnatomical Pathology, Mayo Clinic, Scottsdale, Ariz., USA

Address of Corresponding Author

Respiration 2006;73:382-395 (DOI: 10.1159/000091609)

Key Words

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

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.

Author Contacts

Dr. Diane M. Pierson
Anatomical Pathology
Mayo Clinic
Rochester, MN 14606 (USA)
Tel. +1 507 284 1196, Fax +1 507 284 1875, E-Mail pierson.diane@mayo.edu

Article Information

Received: September 26, 2005
Accepted: December 1, 2005
Published online: February 14, 2006
Number of Print Pages : 14
Number of Figures : 5, Number of Tables : 4, Number of References : 87

Medline Abstract (ID 16490934)

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