HPS Information

  • What is HPS?
  • Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.
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  • Characteristics
  • HPS is described by five major characteristics which may include albinism, platelet dysfunction, inflammatory bowel disease, and pulmonary fibrosis.
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  • Diagnosing HPS
  • The current diagnosis for HPS involves a simple non standard blood test.
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  • References
  • More in depth information about this disorder is available from other organizations and scientific journals here.
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  • Standard of Care
  • At the moment there is no one particular treatment for HPS though studies are in progress for a drug trial to treat the pulmonary fibrosis at the National Institutes of Health
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  • Media Library
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