Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis

Hermansky-Pudlak Syndrome is a rare genetic cause of pulmonary fibrosis, associated with albinism, nystagmus, and a bleeding diathesis. Histologically, Hermansky-Pudlak Syndrome Pulmonary Fibrosis (HPS-PF) typically resembles usual interstitial pneumonia (UIP), however radiologically this is not always the case with a range of features described in the current literature. HPS-PF typically occurs earlier in life than idiopathic pulmonary fibrosis (IPF) and there is limited evidence to support the use of antifibrotic therapy. Given the rarity and potential clinical outcomes of the disease, further research is required. This may be aided by the inclusion of patient with HPS-PF in registry databases.