eMedicine Specialties > Ophthalmology > Extraocular Muscles

Hermansky-Pudlak Syndrome: Treatment & Medication

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

Treatment

Medical Care

Reaching a final diagnosis is of utmost importance in the management of patients with OCA. A primary physician should lead a multispecialty group in the management of patients with the 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 eye glasses to correct amyloidogenic refractive errors and also from low vision evaluation and rehabilitation.
  • Patients with the syndrome have systemic complications associated to accumulation of autofluorescent ceroidlike 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 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-1 gene mutation in patients with HPS. Genetic counseling may benefit patients with the syndrome.

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. The anesthesia team should be aware that patients may have postoperative pulmonary complications as part of the syndrome.
  • Preoperative 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 endotracheal 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.

Consultations

  • Hematology consultation: Because patients with the syndrome have bleeding diathesis, a hematologist should evaluate, diagnose, and co-manage patients with the syndrome.
  • Pneumologist consultation: A pneumologist may diagnose and manage pulmonary fibrosis. The pneumologist should lead pulmonary rehabilitation in patients with the syndrome.
  • Gastroenterologic evaluation: Patients with HPS may have gastrointestinal findings associated to ceroid deposition. Some patients may have a granulomatous (Crohn-like) colitis. 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.4 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.

Diet

Osteoporosis has been reported in patients with OCA. Patients with the syndrome may benefit from vitamin D and calcium-enriched diets.

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.

Medication

Several medications have been used to try to diminish bleeding diathesis in patients with the syndrome.

Hemostatic agents

Are potent inhibitors of fibrinolysis and can reverse states that are associated with excessive fibrinolysis.


Desmopressin acetate (DDAVP injection)

A synthetic analogue of the natural pituitary hormone 8-arginine vasopressin (ADH), an antidiuretic hormone affecting renal water conservation. Indicated for patients with hemophilia A and mild von Willebrand disease to maintain hemostasis. If used preoperatively, administer 30 min prior to scheduled procedure.

Adult

0.3 mcg DDAVP/kg, diluted in sterile physiological saline, infused IV slowly over 15-30 min; 50 mL of diluent is recommended

Pediatric

4 mcg/mL administered at a dose of 0.3 mcg DDAVP/kg, diluted in sterile physiological saline, infused IV slowly over 15-30 min
<10 kg: 10 mL diluent is recommended
>10 kg: 50 mL diluent is recommended

Coadministration with demeclocycline and lithium decrease effects; fludrocortisone and chlorpropamide increase effects of desmopressin

Documented hypersensitivity; platelet-type von Willebrand disease

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

Monitor blood pressure and pulse during infusion; may lead to transient increase or fall in blood pressure with compensatory increase in heart rate; caution in patients with coronary artery insufficiency and hypertensive cardiovascular disease; use in infants and pediatric patients requires careful fluid intake restriction to prevent dilutional hyponatremia

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].

  20. Walker M, Payne J, Wagner B, Vora A. Hermansky-Pudlak syndrome. Br J Haematol. Sep 2007;138(6):671. [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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