Medical Care
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]
Surgical Care
Because patients with Hermansky-Pudlak syndrome 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 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.
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
Patients should avoid sun exposure, use broad-spectrum sunblock with a high SPF, and wear wide-brimmed hats and sunglasses. Patients should also avoid contact sports and physical trauma, owing to the increase risk for bleeding complications.
Prevention
Patients can receive genetic counseling. Patients in areas that have a high incidence of carriers of Hermansky-Pudlak syndrome should avoid marrying close relatives. Currently, no gene therapy for Hermansky-Pudlak syndrome exists.
Long-Term Monitoring
A variety of steps in medical care can be useful in helping patients.
A MedicAlert bracelet or other identification can be helpful in notifying caregivers of patients with Hermansky-Pudlak syndrome who have a bleeding disorder.
The avoidance of aspirin, products containing aspirin, and any other products that may compromise platelet function is important for patients.
The importance of good dental care needs to be explained to patients. The dentist must be aware that the patient has Hermansky-Pudlak syndrome because some dental procedures may require special medications and precautions.
Proper treatment of nosebleeds is important for patient care. Nasal packing should only be performed under medical supervision.
Damage to the lungs must be avoided; thus, patients must avoid smoking.
The use of gauze with petrolatum and pressure dressings on cuts or abrasions may be useful. Gelfoam may help with superficial bleeding as well. Desmopressin and platelets may be beneficial in serious bleeding complications.
Feliciano et al [42] noted steps to facilitate dental care for patients with Hermansky-Pudlak syndrome, including (1) use of eyeglasses with 99% ultraviolet filter to protect Hermansky-Pudlak syndrome patients from the unpleasant dental light stimulus, (2) an extra-soft toothbrush and conservative brushing technique, (3) use of medications with antifibrinolytic agents, and (4) local care to ensure hemostasis.
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Photo showing light brown eyes and a red reflection in the eyes.
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The face of a Puerto Rican girl with Hermansky-Pudlak syndrome. Note the blond hair and the pale skin.
