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

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...

Full description

Saved in:
Bibliographic Details
Published in:Lung India 2019-07, Vol.36 (4), p.345-348, Article 345
Main Authors: Gupta, Abhishek, Utpat, Ketaki, Desai, Unnati, Joshi, Jyotsna
Format: Article
Language:English
Subjects:
Albinism
Anoxemia
Blood platelets
Case Report
Dosage and administration
Drug therapy
Dyspnea
Fibrosis
Hermansky–Pudlak syndrome
Histopathology
Immunization
Influenza
Iron
Lung diseases
lysosomal dysfunction
Mortality
Mutation
occulo-cutaneous albinism
Oculocutaneous albinism
Osteoporosis
Patients
Pirfenidone
Prognosis
Pulmonary arteries
Pulmonary fibrosis
Respiratory failure
Respiratory insufficiency
Respiratory tract diseases
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0970-2113
0974-598X
DOI:10.4103/lungindia.lungindia_258_18