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Review
. 2016 Sep;37(3):505-11.
doi: 10.1016/j.ccm.2016.04.012. Epub 2016 Jun 30.

Hermansky-Pudlak Syndrome

Souheil El-Chemaly  1 , Lisa R Young  2
Affiliations
Review

Hermansky-Pudlak Syndrome

Souheil El-Chemaly et al. Clin Chest Med. 2016 Sep.

Abstract

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. HPS pulmonary fibrosis shows many of the clinical, radiologic, and histologic features found in idiopathic pulmonary fibrosis, but occurs at a younger age. Despite knowledge of the underlying genetic defects, there are currently no definitive therapeutic or preventive approaches for HPS pulmonary fibrosis other than lung transplant.

Keywords: Adaptor protein 3; Albinism; Biogenesis of lysosome-related organelle complex; Hermansky-Pudlak syndrome; Interstitial lung disease; Pulmonary fibrosis.

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Figures

Figure 1
Figure 1
Approach to diagnostic testing for HPS.
Figure 2
Figure 2
Example Chest CT imaging findings in HPS
Figure 2
Figure 2
Example Chest CT imaging findings in HPS
See this image and copyright information in PMC

References

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