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Case Reports
. 2019 Jul-Aug;36(4):345-348.
doi: 10.4103/lungindia.lungindia_258_18.

Hermansky-Pudlak syndrome with interstitial lung disease: A holistically worked up couplet

Abhishek Gupta  1 , Ketaki Utpat  1 , Unnati Desai  1 , Jyotsna M Joshi  1
Affiliations
Case Reports

Hermansky-Pudlak syndrome with interstitial lung disease: A holistically worked up couplet

Abhishek Gupta et al. Lung India. 2019 Jul-Aug.

Abstract

Hermansky-Pudlak syndrome (HPS) is an extremely subtile autosomal recessive disorder characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction. The most grave complication of disease is interstitial lung disease (ILD) leading to irrevocable pulmonary fibrosis. Patients with HPS-1, HPS-2, and HPS-4 variants have a penchant to develop pulmonary fibrosis. The pulmonary involvement is characterised by progressive dyspnea hypoxemia respiratory failure and corpulmonale. The disease has an unfortunate prognosis with a high mortality rate and a poor quality of life. The options currently available in the therapeutic armamentarium are dismal with a dire need for opportune research. We hereby narrate an intriguing case scenario of a pair of siblings affected with this rare disorder with its associated ILD.

Keywords: Hermansky–Pudlak syndrome; lysosomal dysfunction; occulo-cutaneous albinism; pulmonary fibrosis.

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Conflict of interest statement

None

Figures

Figure 1
Figure 1
Bilateral fibrocystic opacities along with reticulonodular opacities with shift of trachea toward the right
Figure 2
Figure 2
Ill-defined areas of intralobular, interstitial septal thickening bilaterally with peripheral distribution and upper zone predominance. Extensive honeycombing bilaterally. Large cyst in posterior segment of the right upper lobe
Figure 3
Figure 3
The buffy coat showing reduction in number of dense granules along with distorted alpha granules
See this image and copyright information in PMC

References

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