Chediak-Higashi Syndrome Treatment & Management

  • Author: Roman Janusz Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jul 13, 2011
 

Medical Care

Allogenic bone marrow transplantation (BMT) from an HLA-matched sibling is the therapy of choice and should performed early. If no matched family donor is available, an unrelated donor or a placental blood graft is a good alternative.[15] BMT alleviates the immune problems and the accelerated phase, but it does not inhibit the development of neurologic disorders, which become increasingly worse with age. BMT corrects the immunologic status but does not affect pigment dilution. Without BMT, children with Chédiak-Higashi syndrome usually die before age 10 years.

  • Administration of acyclovir; high-dose intravenous gamma globulin; and microtubulytic drugs, such as vincristine, vinblastine, and colchicine, is effective in the management of the accelerated phase.
  • Ascorbic acid corrects the microtubular defects in vitro but has no clinically ameliorative effect.
  • Some authors have demonstrated that interferon partially restores the function of natural killer cells.
  • Trottestam et al report that hemophagocytic lymphohistiocytosis can be effective as a first-line treatment and may induce remission.[16]
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Surgical Care

Debridement and drainage of deep abscesses may be performed.

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Consultations

A physician who specializes in hematologic disorders should be involved in the care of these patients.

  • Neurologist: Neurologic involvement, such as loss of deep tendon reflexes due to peripheral neuropathy, cerebellar ataxia, intellectual impairment, nystagmus, and the Babinski sign, is often observed in the course of Chédiak-Higashi syndrome.
  • Hematologist: The accelerated phase resembles lymphoma. Allogenic bone marrow or stem cell transplantation is the treatment of choice to correct the hematologic manifestation of the disease.
  • Ophthalmologist: Ophthalmologists should be aware that progressive visual loss and the constriction of visual field can occur in patients with Chediak-Higashi syndrome as they grow older.[17]
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Activity

Some activity limitations are advised because of the bruising problem and the bleeding tendency.

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Contributor Information and Disclosures
Author

Roman Janusz Nowicki, MD, PhD  Professor, Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Poland

Roman Janusz Nowicki, MD, PhD is a member of the following medical societies: American Academy of Dermatology, European Academy of Dermatology and Venereology, and International Society for Human and Animal Mycology

Disclosure: Nothing to disclose.

Specialty Editor Board

Jacek C Szepietowski, MD, PhD  Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Stiefel GSK Company Salary Employment; Orfagen Consulting fee Consulting; Maruho Consulting fee Consulting; Astellas Consulting fee Consulting; Abbott Consulting fee Consulting; Leo Pharma Consulting fee Consulting

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

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