eMedicine Specialties > Ophthalmology > Extraocular Muscles

Hermansky-Pudlak Syndrome: Follow-up

Author: Natalio J Izquierdo, MD, Associate Professor, Department of Ophthalmology, Medical Sciences Campus, University of Puerto Rico
Coauthor(s): William Townsend, MD, Professor and Director, Department of Pediatric Surgery, Section of Ophthalmology, University Pediatric Hospital, Puerto Rico Medical Center
Contributor Information and Disclosures

Updated: Feb 20, 2008

Follow-up

Complications

  • 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 endotracheal anesthesia. Further, patients with the syndrome need careful postoperative monitoring.

Prognosis

  • Visual prognosis: Most patients with HPS are legally blind. Vision aids may benefit these patients. Presenile cataracts may further reduce vision in patients with the syndrome.
  • Multiple blood transfusions increase the risk of blood-borne infections in patients with HPS.
  • 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.
  • Witkop and coworkers reported that 76% of patients with the syndrome die of causes directly related to the syndrome.4 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.

Patient Education

  • Ophthalmic education
    • Health professionals need to educate family members about photophobia, low vision, nystagmus, and strabismus in patients with the syndrome.
    • Opticians 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.
  • 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.
  • 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).
  • 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.
  • A social worker may educate patients with the syndrome about the benefits and resources available to citizens with disabilities and special needs.
  • For excellent patient education resources, visit eMedicine's Skin, Hair, and Nails Center. Also, see eMedicine's patient education article Bruises.

Miscellaneous

Medicolegal Pitfalls

  • Diagnosis: In a managed care system, a primary physician needs to lead multiple subspecialists to reach a HPS diagnosis. Having a definite diagnosis may save the patient's life. HPS must be ruled out in every patient who has Ty-pos OCA and was born in Puerto Rico or has Puerto Rican ancestors. Because the syndrome has been reported in other nations, every patient with OCA should be asked about bleeding tendencies.
  • Ophthalmologic care: Ophthalmologists need to become familiar with state and federal laws protecting patients with legal blindness. A patient with HPS has statutory blindness if best-corrected central visual acuity is 20/200 or less. Due to legal blindness, patients with the syndrome may benefit from special education, medical, and social benefits granted by the Disability Act. Eyeglasses and low vision aids may benefit patients with the syndrome. Further, in some states, patients with OCA may drive using telescopic lenses.
  • Dermatologic care: Since patients with the syndrome are at risk of skin malignancies, dermatologic follow-up care is needed. In some states, patients with skin diseases (eg, OCA) are allowed to enhance visibility tints in car windows. Physicians need to be aware of the local and federal laws regarding these issues.

Special Concerns

  • Obstetric care: Since patients with the syndrome have bleeding tendencies, they are at increased risk during labor, cesarean delivery, and perinatal period. A hematology consultation is needed for patients with HPS.
 
Acknowledgments

To all my patients with Hermansky-Pudlak syndrome and their family members: I thank you for allowing me to participate in your multisystemic health care.



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
References
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References

  1. Fukai K, Oh J, Frenk E, Almodovar C, Spritz RA. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum Mol Genet. Sep 1995;4(9):1665-9. [Medline].

  2. Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, et al. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet. Aug 2001;28(4):376-80. [Medline].

  3. Bailin T, Oh J, Feng GH, Fukai K, Spritz RA. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol. Jun 1997;108(6):923-7. [Medline].

  4. Witkop CJ, Nunez Babcock M, Rao GH, Gaudier F, Summers CG, Shanahan F, et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R. Aug 1990;82(8):333-9. [Medline].

  5. Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest. Jan 2000;117(1):129-36. [Medline].

  6. DellAngelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell. Jan 1999;3(1):11-21. [Medline].

  7. Gradstein L, FitzGibbon EJ, Tsilou ET, Rubin BI, Huizing M, Gahl WA. Eye movement abnormalities in hermansky-pudlak syndrome. J AAPOS. Aug 2005;9(4):369-78. [Medline].

  8. Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, et al. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Am J Hum Genet. Nov 1997;61(5):1088-94. [Medline].

  9. Iwata F, Reed GF, Caruso RC, Kuehl EM, Gahl WA, Kaiser-Kupfer MI. Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. Ophthalmology. Apr 2000;107(4):783-9. [Medline].

  10. Izquierdo NJ, Townsend W, Hussels IE. Ocular findings in the Hermansky-Pudlak syndrome. Trans Am Ophthalmol Soc. 1995;93:191-200; discussion 200-2. [Medline].

  11. Oh J, Bailin T, Fukai K. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet. Nov 1996;14(3):300-6. [Medline].

  12. Reynolds SP, Davies BH, Gibbs AR. Diffuse pulmonary fibrosis and the Hermansky-Pudlak syndrome: clinical course and postmortem findings. Thorax. Jun 1994;49(6):617-8. [Medline].

  13. Schachne JP, Glaser N, Lee SH, Kress Y, Fisher M. Hermansky-Pudlak syndrome: case report and clinicopathologic review. J Am Acad Dermatol. May 1990;22(5 Pt 2):926-32. [Medline].

  14. Schinella RA, Greco MA, Cobert BL, Denmark LW, Cox RP. Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med. Jan 1980;92(1):20-3. [Medline].

  15. Simon JW, Adams RJ, Calhoun JH, Shapiro SS, Ingerman CM. Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). Am J Ophthalmol. Jan 1982;93(1):71-7. [Medline].

  16. Summers CG, Knobloch WH, Witkop CJ Jr, King RA. Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology. Apr 1988;95(4):545-54. [Medline].

  17. Tang J, Tsilou E, Caruso RC, Rubin B, Gahl WA. Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome. Retina. Jan 2005;25(1):99-100. [Medline].

  18. Toro J, Turner M, Gahl WA. Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Arch Dermatol. Jul 1999;135(7):774-80. [Medline].

  19. Van Dorp DB, Wijermans PW, Meire F, Vrensen G. The Hermansky-Pudlak syndrome. Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time. Ophthalmic Paediatr Genet. Sep 1990;11(3):237-44. [Medline].

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Further Reading

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Keywords

HPS, oculocutaneous albinism, OCA, tyrosinase-positive oculocutaneous albinism, Ty-pos OCA, blindness, nystagmus, strabismus, iris transillumination, foveal hypoplasia, albinotic retinal midperiphery

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Contributor Information and Disclosures

Author

Natalio J Izquierdo, MD, Associate Professor, Department of Ophthalmology, Medical Sciences Campus, University of Puerto Rico
Natalio J Izquierdo, MD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, International Society for Genetic Eye Diseases and Retinoblastoma, Pan-American Association of Ophthalmology, and Sociedad Puertorriquena de Oftalmologia
Disclosure: Nothing to disclose.

Coauthor(s)

William Townsend, MD, Professor and Director, Department of Pediatric Surgery, Section of Ophthalmology, University Pediatric Hospital, Puerto Rico Medical Center
Disclosure: Nothing to disclose.

Medical Editor

Andrew W Lawton, MD, Medical Director of Neuro-Ophthalmology Service, Section of Ophthalmology, Baptist Eye Center, Baptist Health Medical Center
Andrew W Lawton, MD is a member of the following medical societies: American Academy of Ophthalmology, Arkansas Medical Society, and Southern Medical Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Simon K Law, MD, PharmD, Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles
Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

Managing Editor

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.

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
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, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

 
 
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