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Hermansky-Pudlak Syndrome Follow-up

  • Author: Natalio J Izquierdo, MD; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: May 02, 2014
 

Complications

See the list below:

  • Complications associated to bleeding diathesis
    • A hematologist should evaluate patients with 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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Prognosis

See the list below:

  • Visual prognosis: Most patients with HPS are legally blind. Low vision aids may benefit these patients. Presenile cataracts may further reduce vision in patients with the syndrome.
  • Pulmonary fibrosis is the most common cause of morbidity and mortality in patients with the syndrome. Pulmonary complications shorten the life span in patients with HPS.
  • Multiple blood transfusions increase the risk of blood-borne infections in patients with HPS.
  • Witkop and co-workers reported that 76% of patients with the syndrome die of causes directly related to the syndrome.[18] The leading cause of death was pulmonary fibrosis in 50% of patients. Up to 13% of patients died from hemorrhagic episodes. Another 13% of patients with the syndrome died from sequelae of granulomatous enteropathic disease.
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Patient Education

See the list below:

  • Ophthalmic education
    • Health professionals need to educate both patients with the syndrome and family members about photophobia, low vision, nystagmus, and strabismus.
    • Health professionals may educate patients with HPS about the benefits of protective sunglasses. Sunglasses decrease photophobia in patients with the syndrome. Sunglasses with ultraviolet protection diminish the deleterious effect of ultraviolet rays on the eye. Further, blue blockers, yellow tint, or polarized glasses may decrease photophobia in patients with HPS.
    • Low vision aids benefit patients with the syndrome. Parents should learn about telescopic lenses, high-contrast school materials, and font magnifiers.
  • Pulmonary fibrosis: Patients with HPS should be educated about the pulmonary complications of the syndrome. Education should stress the importance of adherence to medical care. Some patients with the syndrome may need cardiopulmonary rehabilitation.
  • Bleeding diathesis: Parents of patients with the syndrome should be warned about the potential complications associated to bleeding diathesis. Patients with HPS should avoid using medications containing aspirin and its derivatives. Further, education should emphasize trauma prevention (eg, avoiding contact sports).
  • Early skin care education should be provided to parents and patients with HPS. Health professionals should educate them about skin lesions. Education should emphasize potential skin malignancies associated to sunlight exposure. Further, parents of patients with the syndrome should learn about skin care products and sun protection factors.
  • A social worker may educate patients with the syndrome about the benefits and resources available to citizens with disabilities and special needs.
  • For patient education resources, see the Skin, Hair, and Nails Center, as well as Bruises.
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Contributor Information and Disclosures
Author

Natalio J Izquierdo, MD Associate Professor, Medical Sciences Campus, University of Puerto Rico School of Medicine

Natalio J Izquierdo, MD is a member of the following medical societies: American Academy of Ophthalmology, Puerto Rico Medical Association, Pan-American Association of Ophthalmology, International Society for Genetic Eye Diseases and Retinoblastoma, Sociedad Puertorriquena de Oftalmologia

Disclosure: Nothing to disclose.

Coauthor(s)

William Townsend, MD Professor of Ophthalmology, Medical Sciences Campus, University of Puerto Rico School of Medicine

William Townsend, MD is a member of the following medical societies: American Academy of Ophthalmology, American Ophthalmological Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, American Glaucoma Society

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Andrew W Lawton, MD Neuro-Ophthalmology, Ochsner Health Services

Andrew W Lawton, MD is a member of the following medical societies: American Academy of Ophthalmology, Arkansas Medical Society, Southern Medical Association

Disclosure: Nothing to disclose.

Acknowledgements

Brian R Younge, MD Professor of Ophthalmology, Mayo Clinic School of Medicine

Brian R Younge, MD is a member of the following medical societies: American Medical Association, American Ophthalmological Society, and North American Neuro-Ophthalmology Society

Disclosure: Nothing to disclose.

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