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...
  • Print
Answer

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.


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!