What is the prognosis of Hermansky-Pudlak syndrome (HPS)?

Updated: Dec 13, 2019
  • Author: Jaclyn Scholtz, MD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Most patients with Hermansky-Pudlak syndrome (about 70%) die from associated complications. Pulmonary fibrosis causes death in almost 50% of patients with Hermansky-Pudlak syndrome, usually in the fourth decade of life. Pulmonary complications are more common in Puerto Rican patients. Mortality due to bleeding complications occurs in about 10% of patients with Hermansky-Pudlak syndrome. These patients also have an increased risk of blood-borne illness due to  blood and platelet transfusions. Some patients have colitis, and about 13% of patients die from complications relating to this. Other causes of death include intestinal, liver, and kidney failure. While some cases are treatable, some are intractable, such as a case reported in 2014 of a 52-year-old man whose HPS-1 was untreatable and resulted in death. [21]

Most patients with Hermansky-Pudlak syndrome are legally blind. Cataracts can also develop at an earlier age than in healthy control subjects. A lack of pigmentation in the eyes can result in photophobia (light sensitivity), strabismus (crossed eyes), and nystagmus (involuntary eye movements). Best-corrected visual acuity in patients with Hermansky-Pudlak syndrome ranges from 20/60 to 20/400.

Patients with Hermansky-Pudlak syndrome manifest with skin pathology related to albinism. Clinical studies report that 80% of patients with Hermansky-Pudlak syndrome have freckles or lentigines. Melanoma, solar keratoses, squamous cell carcinoma, and basal cell carcinoma have been reported.


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