eMedicine Specialties > Dermatology > Diseases of Pigmentation

Hermansky-Pudlak Syndrome: Treatment & Medication

Author: Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, New York Medical College-Metropolitan Hospital; Private Practice
Coauthor(s): Ann M Johnson, MD, Pediatric Radiology Fellow, Department of Radiology, The Children's Hospital of Philadelphia
Contributor Information and Disclosures

Updated: Feb 14, 2008

Treatment

Medical Care

The care of patients with 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 HPS.
  • The heart and lung function of these patients can be impaired; thus, physical therapy and means for enhancing heart and lung function are useful.
  • Erzin et al19 noted complicated granulomatous colitis in a patient with HPS, which was successfully treated with infliximab.

Surgical Care

Because patients with HPS bleed easily and have pulmonary compromise, surgery requires the involvement of hematologists and pulmonologists. If platelet aggregation improves with desmopressin, it may be administered in the preoperative period to improve platelet function.

Consultations

The care of patients with HPS requires consultations from many medical specialties because of its complicated nature.

  • Patients should regularly see a dermatologist to monitor for the development of skin lesions.
  • Consultation with a hematologist is useful because patients with HPS 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. Some patients may have a 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 HPS. One study reported menometrorrhagia in 60% of female patients with HPS. In one series, as many as 46% of the female patients with HPS underwent gynecologic surgical procedures as part of treatment of abnormally abundant menstrual bleeding. No maternal mortalities have been reported in female patients with HPS.
  • Consultation with an ophthalmologist can be useful for evaluating visual defects and acuity and instituting appropriate interventions.

Diet

Osteoporosis has been reported in patients with albinism. Patients may benefit from vitamin D and calcium-enriched diets, but this is not proven or well documented.

Activity

  • Because of photosensitivity, patients should avoid sun exposure, use sunblock with a high sun protection factor (SPF), and wear photoprotective glasses (sunglasses).
  • Because of the increased incidence of bleeding, patients should avoid contact sports and physical trauma.

Medication

Medications have been used to try to diminish the bleeding diathesis in patients with HPS. Poor response to desmopressin acetate (DDAVP) in children with HPS has been reported.20

Hemostatic agents

These agents are potent inhibitors of fibrinolysis and can reverse states that are associated with excessive fibrinolysis.


Desmopressin acetate (DDAVP, Stimate, DDAVP injection)

A synthetic analogue of the natural pituitary hormone 8-arginine vasopressin (ADH), an antidiuretic hormone affecting renal water conservation. Indicated for patients with hemophilia A and mild von Willebrand disease to maintain hemostasis. If used preoperatively, administer 30 min prior to scheduled procedure.

Adult

0.3 mcg DDAVP/kg, diluted in sterile physiological sodium chloride solution, infused IV slowly over 15-30 min (50 mL of diluent recommended)

Pediatric

4 mcg/mL administered at a dose of 0.3 mcg DDAVP/kg, diluted in sterile physiological sodium chloride solution, infused IV slowly over 15-30 min
<10 kg: 10 mL diluent recommended
>10 kg: 50 mL diluent recommended

Coadministration with demeclocycline and lithium decrease effects; fludrocortisone and chlorpropamide increase effects

Documented hypersensitivity; platelet-type von Willebrand disease

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

Monitor blood pressure and pulse during infusion; may lead to transient increase or decrease in blood pressure with compensatory increase in heart rate; caution in patients with coronary artery insufficiency and hypertensive cardiovascular disease; use in infants and pediatric patients requires careful restriction of fluid intake to prevent dilutional hyponatremia

More on Hermansky-Pudlak Syndrome

Overview: Hermansky-Pudlak Syndrome
Differential Diagnoses & Workup: Hermansky-Pudlak Syndrome
Treatment & Medication: Hermansky-Pudlak Syndrome
Follow-up: Hermansky-Pudlak Syndrome
Multimedia: Hermansky-Pudlak Syndrome
References
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References

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Further Reading

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Keywords

Hermansky-Pudlack syndrome, HPS, oculocutaneous albinism, lysosomal ceroid storage

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Contributor Information and Disclosures

Author

Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, New York Medical College-Metropolitan Hospital; Private Practice
Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Coauthor(s)

Ann M Johnson, MD, Pediatric Radiology Fellow, Department of Radiology, The Children's Hospital of Philadelphia
Disclosure: Nothing to disclose.

Medical Editor

Smeena Khan, MD, Private Practice, Adult and Pediatric Dermatology Associates
Smeena Khan, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Director, Division of Dermatology, Scott and White Clinic; Director Dermatology Residency Training Program, Scott and White Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: 3M Pharmaceutical Grant/research funds Other; Graceway Pharmaceuticals Grant/research funds Other

Managing Editor

Jeffrey J Miller, MD, Associate Professor, Department of Dermatology, Penn State University, Milton S Hershey Medical Center
Disclosure: Nothing to disclose.

CME Editor

Joel M Gelfand, MD, MSCE, Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania
Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology
Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds None; Genentech Consulting fee Consulting; Centocor Consulting fee Consulting; Centocor Grant/research funds None; Covance Consulting fee Consulting; Shire  Consulting

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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