Hermansky-Pudlak Syndrome Treatment & Management

Updated: Jul 28, 2020
  • Author: Ahmed Farghaly Abdelhameed Omar, MD, PhD; Chief Editor: Hampton Roy, Sr, MD  more...
  • Print
Treatment

Approach Considerations

Management of HPS requires lifelong UV-light protection, treatment of associated visual impairment, and treatment of any systemic complications arising from end-organ damage.

Patients with HPS should wear a medical alert bracelet owing to associated bleeding diathesis. These patients should also avoid use of NSAIDs or aspirin. Childhood vaccinations should still be given according to the guidelines set forth by the American Academy of Pediatrics. Oral and hormonal contraceptives should be considered to decrease bleeding associated with menstruation.

Next:

Medical Care

Reaching a final diagnosis is of utmost importance in the management of patients with oculocutaneous albinism (OCA). A primary physician should lead a multispecialty group in the management of patients with the syndrome. Hermansky-Pudlak syndrome (HPS) should be ruled out in all patients with Ty-pos OCA who have Puerto Rican ancestors.

Early ophthalmic evaluation is needed in patients with a suspected OCA diagnosis. Ophthalmologists will inspect the iris for transillumination and retinal findings compatible with OCA.

Further, patients with the syndrome may benefit from eyeglasses to prevent amblyopia secondary to uncorrected refractive errors (including high astigmatism).

Patients benefit from low vision evaluation and rehabilitation, especially in school-age years.

Patients with the syndrome have systemic complications associated to accumulation of autofluorescent ceroid-like pigments within macrophages in various tissues, including bone marrow, spleen, liver, colon, lymph nodes, and kidneys.

A pulmonologist should evaluate patients with the syndrome because of the high morbidity and early mortality associated with pulmonary fibrosis.

Early hematology consultation should be requested when a patient with OCA has a history of easy bruising.

A geneticist should evaluate patients with the syndrome and their families. The geneticist should lead the search for the HPS gene mutation in patients with HPS. Genetic counseling may benefit patients with the syndrome.

Previous
Next:

Surgical Care

Systemic complications make surgeries more challenging in patients with the syndrome. Both the surgeon and the anesthesia team should be aware of the potential pulmonary and hematologic complications that may occur when a patient with the syndrome undergoes surgery.

A preoperative pulmonology consultation is needed prior to eye surgery as most patients need general anesthesia during procedures. The anesthesia team should be aware that patients may have post-operative pulmonary complications as part of the syndrome.

Pre-operative hematology consultation is advisable prior to elective ocular surgeries. Since patients with the syndrome have bleeding tendencies, intraoperative, perioperative, and postoperative hemorrhages should be prevented and treated. If platelet aggregation improves with desmopressin, it may be administered in the preoperative period. However, sometimes plasmapheresis is needed in the perioperative period.

Ophthalmologists should try to avoid retrobulbar blocks in patients with the syndrome. Whenever possible, patients with HPS may benefit from general anesthesia. Phacoemulsification may help prevent intraoperative and postoperative bleeding in patients with the syndrome. Prolonged bleeding has been reported following strabismus surgery in patients with the syndrome. Additional consideration should be given to patients with diminished iris pigment secondary to albinism. These patients may benefit from prosthetic iris implantation, which has been shown to improve symptoms of glare and photophobia in some cases. [27]

Patients with HPS who have pulmonary fibrosis should be evaluated for lung transplantation in the early phase of the disease. There have been reports of successful lung transplantation despite the risk of bleeding. [28]

Previous
Next:

Consultations

Pulmonology consultation: A pulmonologist may diagnose and manage pulmonary fibrosis. The pulmonologist should lead pulmonary rehabilitation in patients with the syndrome.

Hematology consultation: Because patients with the syndrome have bleeding diathesis, a hematologist should evaluate, diagnose, and co-manage patients with the syndrome.

Gastroenterologic evaluation: Patients with HPS may have gastrointestinal findings associated to ceroid deposition. Some patients may have gastroduodenitis, procto-colitis, or a granulomatous (Crohn-like) colitis. [29] Upper and lower gastrointestinal bleeding has been reported in patients with both HPS type 1 and HPS type 3. A gastroenterologist should treat patients who have gastrointestinal complications as part of the syndrome.

Dermatology consultation: Patients with the syndrome are at an increased risk of skin malignancies, including squamous cell carcinoma, basal cell carcinoma, and melanoma. [21] A dermatologist should periodically evaluate patients with HPS.

Gynecologic evaluation: A gynecologist should evaluate patients with HPS. Witkop and coworkers reported menometrorrhagia in 60% of female patients with the syndrome. [9] Up to 46% of patients underwent gynecologic surgical procedures as part of treatment of abnormally abundant menstrual bleeding. No maternal mortalities have been reported in female patients with the syndrome.

Rheumatologic evaluation: Previous studies have reported osteopenia in patients with albinism. Patients with HPS should have bone densitometry studies. Treatment of osteopenia may benefit patients with the syndrome.

Previous
Next:

Diet

Since osteoporosis has been reported in patients with OCA, patients with the syndrome may benefit from vitamin D and calcium-enriched diets as needed.

Previous
Next:

Activity

Patients with the syndrome are at increased risk of skin malignancies. Therefore, patients with HPS should avoid sun exposure. Further, sunglasses with ultraviolet ray protection may benefit patients with the syndrome.

To prevent bleeding following trauma, patients with HPS should avoid contact sports.

Previous
Next:

Complications

Complications associated to bleeding diathesis

A hematologist should evaluate patients with Hermansky-Pudlak syndrome (HPS) since bleeding may complicate ocular surgery.

Retrobulbar anesthesia in patients with HPS may lead to lid ecchymosis and/or retrobulbar hemorrhage.

Hyphema may occur following anterior segment procedures.

Vitreous hemorrhage has been reported during vitreoretinal surgery in patients with the syndrome.

Patients with HPS may have prolonged bleeding following strabismus surgery. Patients with the syndrome who respond to desmopressin should use it in the perioperative period.

Complications associated to ceroid deposition

Patients with HPS should obtain a preoperative pulmonary evaluation. The anesthesia team should be aware of bleeding tendencies and potential pulmonary complications as part of the syndrome.

Patients with HPS may have pulmonary complications following general anesthesia. Further, patients with the syndrome need careful post-operative monitoring.

Previous
Next:

Prevention

Currently, there are no preventable approaches for HPS pulmonary fibrosis besides lung transplantation. [21]

Previous
Next:

Prognosis

Patients with HPS who develop hemorrhagic complications have a guarded prognosis. The life expectancy is approximately 10 years after the initial diagnosis of interstitial lung disease, with the leading cause of death being pulmonary fibrosis. [21]

Previous