A Rare Cause of Interstitial Lung Disease: Hermansky-Pudlak Syndrome

Aydin Ciledag

doi:10.5578/tt.2433

Abstract

Hermansky-Pudlak syndrome is a rare disease characterized by bleeding diathesis, oculocutaneous albinism and lysosomal ceroid lipofuscin pigment deposits. Pulmonary fibrosis may also accompany with the disease. A 48-year-old male patient with a diagnosis of Hermansky-Pudlak syndrome admitted with dyspnea. A thorax computed tomography revealed bilateral diffuse interlobular septal thickness which was more prominent in the basal segments of lower lobes. Although pirfenidone therapy was planned, clinical deteroriation developed and patient died because of respiratory failure. In conclusion; this report describes a patient with pulmonary fibrosis caused by lung involvement of Hermansky-Pudlak syndrome which is an extremely rare and mortal disease.

Highlights

Hermansky-Pudlak syndrome (HPS), first described in 1959, is characterized by a classic triad of oculocutaneous albinism, a platelet storage pool deficiency and lysosomal accumulation of ceroid lipofuscin [1]
In particular, contributes much to the morbitidy associated with the disease, as ceroid deposition affects many organ systems and is especially problematic in the lungs where it is often associated with pulmonary fibrosis [2]
HPS is a type of oculocutaneous albinism associated with a bleeding diathesis and pulmonary fibrosis

Summary

Introduction

Hermansky-Pudlak syndrome (HPS), first described in 1959, is characterized by a classic triad of oculocutaneous albinism, a platelet storage pool deficiency and lysosomal accumulation of ceroid lipofuscin [1]. In particular, contributes much to the morbitidy associated with the disease, as ceroid deposition affects many organ systems and is especially problematic in the lungs where it is often associated with pulmonary fibrosis [2]

Findings

Discussion

Conclusion