HERMANSKY–PUDLAK SYNDROME: A RARE CAUSE OF PROGRESSIVE INTERSTITIAL LUNG DISEASE IN A YOUNG ADULT

Dr. Gowtham B.*, Dr. Monna Mohamed Jaber, Dr. Arjunan M., Dr. Sundareswaran M.

ABSTRACT

Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterised by oculocutaneous albinism, bleeding diathesis, and systemic complications such as pulmonary fibrosis. We report a 33-year-old man with oculocutaneous albinism who presented with a three-month history of progressive exertional dyspnoea and dry cough. Clinical examination revealed horizontal nystagmus, cutaneous albinism, and actinic keratosis. Pulmonary evaluation demonstrated a restrictive pattern on spirometry, and high-resolution computed tomography revealed features suggestive of interstitial lung disease. Genetic testing supported the diagnosis of HPS. The patient was managed with long-term oxygen therapy and considered for antifibrotic therapy, alongside counselling for lung transplantation. This case highlights the need for early recognition of HPS-associated pulmonary fibrosis and timely referral for advanced respiratory interventions.

Keywords: Hermansky–Pudlak syndrome; oculocutaneous albinism; pulmonary fibrosis; interstitial lung disease; long-term oxygen therapy; lung transplantation.