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Treatment of Chediak-Higashi syndrome
Last reviewed: 04.07.2025
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Treatment of Chediak-Higashi syndrome before the acceleration phase is limited to adequate control of emerging infections. In the case of deep abscesses, in addition to antibacterial therapy, surgical treatment is indicated. Therapy in the acceleration phase is carried out according to the protocol intended for PHPH, with mandatory subsequent allogeneic HSCT from an HLA-identical or haploidentical donor. In 2006, Tardieu et al. published the results of more than 20 years of experience in transplantation of patients with Chediak-Higashi syndrome, carried out at the Necker-Enfants Matades Hospital in Paris. Five-year survival was observed in 10 of 14 patients, but 2 of 10 surviving patients had neurological disorders in the early post-transplant period, and in another 3 patients they debuted 20 years or more after transplantation. Interestingly, one patient transplanted from a donor incompatible for 1 HLA antigen developed similar symptoms only at the age of 21, and only 4% of donor cells were detected during the entire post-transplant period. In the absence of gene therapy, HSCT remains the only radical treatment for patients suffering from CHS.
Forecast
The prognosis, in the absence of HSCT, is unfavorable, since children with Chediak-Higashi syndrome usually do not survive to the age of ten. The causes of death are usually severe infections, hemorrhagic syndrome. Several patients aged 20 years who did not undergo HSCT have been described, however, in such patients, over the years, there is an increase in lymphoproliferation and the risk of malignant lymphoma increases significantly.