Format

Send to

Choose Destination
Lung India. 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.

Author information

1
Department of Pulmonary Medicine, T. N. Medical College, B. Y. L. Nair Hospital, Mumbai, Maharashtra, India.

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

Free full text

Supplemental Content

Full text links

Icon for Medknow Publications and Media Pvt Ltd
Loading ...
Support Center