Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) is a rare syndrome which consists of:

  • oculocutaneous hypopigmentation (albinism)
  • platelet dysfunction 
  • abnormal storage of autofluorescent pigment (ceroid or lipofuscin) 
    • typically occurs within lysosomal organelles of the cells of multiple organs and the reticuloendothelial system

There is a recognised regional predilection with increased incidence around the Swiss alps region and in Puerto Rico 3.

Genetics

The condition is a genetically transmitted autosomal recessive disorder. At least six distinct genetic forms (HPS1 through HPS6) have been identified resulting in somewhat different clinical manifestations. 

  • pulmonary fibrosis
    • considered a frequent complication
    • incidence and severity of fibrosis is greatest in patients with HPS1 and HPS4 
    • slowly progressive lung fibrosis occurs in individuals aged 20-40 years
  • granulomatous colitis
    • patients with HPS can occasionally develop granulomatous colitis similar to Crohn disease
    • believed to be a result of an accumulation of ceroid or lipofuscin in the bowel wall
    • small bowel involvement is only rarely involved

It was initially described by F Hermansky and P Pudlak in 1959 4.

  • Chédiak-Higashi syndrome, similar syndrome but has:
    • recurrent childhood infection
    • peripheral and central neuropathy
    • accelerated phase
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Article Information

rID: 21682
System: Chest
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • Hermansky-Pudlak Syndrome
  • Hermansky-Pudlak syndrome (HPS)

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