How is Chédiak-Higashi syndrome (CHS) treated?

Updated: Aug 08, 2019
  • Author: Roman J Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Early treatment of children with Chédiak-Higashi syndrome (CHS) is of paramount importance.

Treatment of manifestations includes the following:

  • Initial chemoimmunotherapy followed by transition to continuation therapy for the accelerated phase
  • Allogenic hematopoietic stem cell transplantation (HSCT) as soon as possible to cure hematologic and immunologic defects
  • Platelet transfusions as needed for serious bleeding
  • Corrective lenses to improve visual acuity
  • Treatment by rehabilitation specialists for neurologic complications

The only treatment that cures the hematologic and immunologic defects is allogenic HSCT, but this therapy does not prevent the progressive neurological dysfunction frequently observed during long-term follow up. [8, 21] The current standard of care is HSCT as soon as the diagnosis is confirmed and the accelerated phase has either been ruled out or is in remission. The most favorable outcome is achieved when HSCT is performed prior to development of the accelerated phase. If signs of the accelerated phase are present, hemophagocytosis must be brought into clinical remission before HSCT can be performed. Guidelines for treatment of the accelerated phase are the same as those for familial hemophagocytic lymphocytic lymphohistiocytosis. Combination therapy consists of etoposide, dexamethasone, and cyclosporine A. Remission is achieved in 75% of individuals within 8 weeks; however, relapses are common and response to treatment declines over time. Once remission occurs, prompt HSCT is recommended.

Prevention of secondary complications includes the following:

  • Prompt aggressive use of antibiotics and antiviral agents for bacterial and viral illnesses
  • Routine immunizations
  • Intravenous desmopressin acetate prior to invasive procedures to help control bleeding

In patients with CHS and Epstein-Barr virus (EBV)–associated hemophagocytic lymphohistiocytosis (HLH), the addition of rituximab has been reported to be a valuable adjunct to therapy, although in contrast to normal EBV infection, in HLH patients, the virus is also present in T cells. Other treatment options include the anti-CD52 monoclonal antibody alemtuzumab as a second-line therapy for pretransplantation treatment of HLH refractory to etoposide-based treatments. [5]

A conditioning regimen generally includes a combination of etoposide, busulfan, and cyclophosphamide. [22]

The duration of antimicrobial therapy to treat common infections should ideally be two to three times longer than standard recommendations. Granulocyte colony-stimulating factor (G-CSF) can be used to improve or correct neutropenia and decrease infections.

Careful dental hygiene can minimize gingival bleeding, and treatment with desmopressin and/or antifibrinolytic agents is effective in preventing bleeding after dental extraction or minor surgery in patients with storage pool disease or mild bleeding disorders. Platelet transfusions are particularly indicated in cases of severe uncontrolled bleeding, when prior treatments have been unsuccessful and/or in the presence of, or anticipation of, excessive traumatic or surgical bleeding. [14]


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