Rare Etiologies of Interstitial Lung Disease: Focus on Hermansky-Pudlak Syndrome
DOI:
https://doi.org/10.12775/JEHS.2026.92.72658Keywords
Hermansky–Pudlak syndrome, interstitial lung disease, pulmonary fibrosis, rare diseasesAbstract
Background.
Interstitial lung diseases (ILDs) are a diverse group of disorders leading to progressive pulmonary fibrosis. Rare genetic forms such as Hermansky–Pudlak syndrome (HPS) provide insight into disease mechanisms.
Aim.
To summarize current knowledge on HPS-associated interstitial lung disease (HPS-ILD).
Material and methods.
A literature review was conducted using PubMed with key terms related to HPS and pulmonary involvement. Selected references were also screened.
Results.
HPS-ILD results from defects in intracellular trafficking, leading to epithelial dysfunction, immune activation, and fibrosis. It shares features with idiopathic pulmonary fibrosis but occurs earlier and has a genetic basis. Diagnosis relies on clinical features, imaging, and genetic testing. Treatment is mainly supportive, with lung transplantation as the only effective option in advanced disease.
Conclusions.
HPS-ILD is a valuable model of fibrotic lung disease, highlighting the role of epithelial injury and the need for targeted therapies.
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