How is Hermansky-Pudlak syndrome (HPS) treated?

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

The care of patients with Hermansky-Pudlak syndrome (HPS) involves many medical specialties. Treatment involves minimizing the complications of bleeding; monitoring organ function, which ceroid deposits can impair; compensating for visual impairment; and evaluating skin that, because of albinism, can easily develop skin cancer.

Medications have been used to try to diminish the bleeding diathesis in patients with Hermansky-Pudlak syndrome. The heart and lung function of these patients can be impaired; thus, physical therapy and cardiac rehabilitation may be helpful. Erzin et al [40] noted complicated granulomatous colitis in a patient with Hermansky-Pudlak syndrome, which was successfully treated with infliximab.

Pregnancy can be complicated by Hermansky-Pudlak syndrome as a result of bleeding-related complications. A report in 2008 notes use of 1-deamino-8-arginine-vasopressin during labor in a patient with Hermansky-Pudlak syndrome during 2 successful vaginal births after cesarean delivery. [41]


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