What is the prognosis of Chédiak-Higashi syndrome (CHS)?

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

Chédiak-Higashi syndrome (CHS) usually leads to early death from infection or, less commonly, hemorrhage. Intractable respiratory and cutaneous infections usually prove fatal before a child with CHS reaches age 10 years. Longer survival is possible, but the lymph nodes, spleen, and liver become enlarged and a malignant lymphoma develops. A few patients have survived to age 20 years.

In CHS patients who survive beyond childhood, neurological problems persist and/or increase in magnitude. Approximately 50-85% of patients develop a fatal accelerated phase, namely hemophagocytic lymphohistiocytosis (HLH), characterized by pancytopenia, high fever, hemophagocytosis, and marked infiltration of organs by lymphocytes, leading to multiorgan dysfunction. Treatment of HLH is difficult, and the prognosis is poor. CHS patients with deletions in the LYST gene usually present with a fulminant accelerated phase early in life, whereas those with missense mutations have a better prognosis, characterized by the absence of HLH and no neurological involvement. [5]

Price et al report a patient with CHS whose pregnancy, labor, and delivery were not affected. The infant and placenta were normal. [13]


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