What question did this study set out to answer?

To highlight Hermansky–Pudlak syndrome as a rare cause of progressive interstitial lung disease in young adults.

July 12, 20260 citationsOpen Access

Hermansky–pudlak Syndrome: A Rare Cause of Progressive Interstitial Lung Disease in a Young Adult

DMDr. Gowtham B.1*, Dr. Monna Mohamed Jaber2, Dr. Arjunan M.3, Dr. Sundareswaran M.3

Puntos clave

To highlight Hermansky–Pudlak syndrome as a rare cause of progressive interstitial lung disease in young adults.
Clinical examination and pulmonary evaluation including spirometry and high-resolution computed tomography.
Genetic testing confirming diagnosis of Hermansky–Pudlak syndrome.
Management involved long-term oxygen therapy and consideration for antifibrotic therapy and lung transplantation.
The patient exhibited a restrictive pattern on spirometry.
High-resolution CT scan suggested interstitial lung disease characteristics.
Early diagnosis and intervention were emphasized for better clinical outcomes.

Resumen

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.

Preguntar a la IA

Me gusta

Guardar

Ver artículo completo