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Semin Respir Crit Care Med 2020; 41(02): 238-246
DOI: 10.1055/s-0040-1708088
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Hermansky–Pudlak Syndrome

Wilfredo De Jesus Rojas
1   Department of Pediatrics, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, Puerto Rico
,
Lisa R. Young
2   Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
› Author Affiliations
Further Information

Publication History

Publication Date:
12 April 2020 (online)

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Abstract

Hermansky–Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease occurring in 1 in 500,000 to 1,000,000 individuals worldwide, though the prevalence is 1 in 1,800 in individuals with Puerto Rican heritage. Recessive mutations or disruptions in HPS genes alter the function of HPS proteins which are components of biogenesis of lysosome-related organelle complexes and are critical for intracellular protein trafficking. Diagnosis and management of HPS-related comorbidities represent a challenge to physicians, and a multidisciplinary clinical approach is necessary for early detection, health management, and surveillance of PF in patients with HPS types 1, 2, and 4. Treatment options for individuals with HPS-PF include pirfenidone and lung transplantation. In this article, we describe the epidemiology, genetics, clinical manifestations, and management of HPS.

Keywords

Hermansky–Pudlak syndrome - pulmonary fibrosis - oculocutaneous albinism - interstitial lung disease - bleeding diathesis - rare disease
 

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