Which specialist consultations are beneficial to patients with Hermansky-Pudlak syndrome (HPS)?

Updated: Dec 13, 2019
  • Author: Jaclyn Scholtz, MD; Chief Editor: Dirk M Elston, MD  more...
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The care of patients with Hermansky-Pudlak syndrome requires consultations from many medical specialties.

Patients should regularly see a dermatologist to monitor for the development of skin cancer.

Consultation with a hematologist is useful because patients with Hermansky-Pudlak syndrome have impaired platelet function and a resultant bleeding diathesis.

Consultations with a pulmonologist and a cardiologist are needed to manage pulmonary fibrosis and cardiomyopathy and to facilitate pulmonary and cardiac rehabilitation.

Consultation with a gastroenterologist is useful because of gastrointestinal findings associated with ceroid deposition. Patients may need a colonoscopy to assess for granulomatous colitis that resembles Crohn disease.

Consultation with a geneticist may aid families in understanding the disease and its implications for reproduction and health. The genetic defect involved can be investigated as well.

Consultation with a gynecologist is helpful in females with Hermansky-Pudlak syndrome. One study reported menometrorrhagia in 60% of female patients with Hermansky-Pudlak syndrome. In one series, as many as 46% of the female patients with Hermansky-Pudlak syndrome underwent gynecologic surgical procedures as part of treatment of abnormally abundant menstrual bleeding. No maternal mortalities have been reported in female patients with Hermansky-Pudlak syndrome.

Consultation with an ophthalmologist can be useful for evaluating visual defects and acuity and instituting appropriate interventions.

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