Hermansky-Pudlak Syndrome Treatment & Management

Updated: Dec 11, 2019
  • Author: Natalio J Izquierdo, MD; Chief Editor: Hampton Roy, Sr, MD  more...
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Treatment

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 pneumologist 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.

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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 pneumologist consultation is needed for 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.

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Consultations

Pneumologist consultation: A pneumologist may diagnose and manage pulmonary fibrosis. The pneumologist 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. [23] 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. 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.

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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.

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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.

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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.

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