Hermansky-Pudlak syndrome

Epidemiology

• rare

Pathology

• defects in melanosomes, lysosomes & platelet dense granules
• accumulation of ceroid lipofuscin in lysosomes of reticuloendothelial cells, bone marrow & lung macrophages, GI mucosal cells
• platelet storage pool deficiency
• lysosomal storage defects
• absence of platelet dense bodies

Genetics

• autosomal recessive
• associated with mutations in:
  • HPS1 gene
  • HPS3 gene
  • HPS4 gene
  • HPS5 gene
  • DTNBP1 gene (HPS7)
  • BLOC1S3 gene (HPS8)
  • gene for the beta-3A adaptin (AP3B1)
  • PLDN gene (HPS9)

Clinical manifestations

• oculocutaneous albinism
• reduced visual acuity, legal blindness to low vision
• macular translucency
• inflammatory bowel disease
• bleeding diathesis
  • epistaxis
  • gingival bleeding
  • easy bruisability
• cardiomyopathy
• interstitial pulmonary fibrosis
• renal failure

Complications

• ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death

More general terms

• lysosomal storage disease
• genetic syndrome (multisystem disorder)

More specific terms

• Hermansky-Pudlak syndrome 1/HPS1 mutation
• Hermansky-Pudlak syndrome 3/HPS3 mutation
• Hermansky-Pudlak syndrome 4/HPS4 mutation
• Hermansky-Pudlak syndrome 5/HPS5 mutation
• Hermansky-Pudlak syndrome 6/HPS6 mutation
• Hermansky-Pudlak syndrome 9/HPS9 mutation
• Hermansky-Pudlak syndrome/beta 3A adaptin mutation (Hermansky-Pudlak syndrome-2)

Database

• OMIM: https://mirror.omim.org/entry/203300