Which physical findings are characteristic of hemophagocytic lymphohistiocytosis (HLH) in patients with 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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Most patients are diagnosed during the first decade of life, and, while the disease affects multiple organs and systems, death often occurs early because of infection, bleeding, or development of hemophagocytic lymphohistiocytosis (HLH). The accelerated phase is the most life-threatening clinical feature of CHS, affecting about 85% of CHS patients within the first decade. This manifestation defines the characteristic childhood form of the disease and is characterized by massive HLH. It often occurs following initial exposure to Epstein-Barr virus (EBV), when it may resemble lymphoma. HLH manifests as fever, lymphadenopathy, and hepatosplenomegaly with signs of liver dysfunction, cytopenia, and bleeding. Massive lymphohistiocytic infiltration of virtually all organ systems may also be observed. Most patients with a history suggestive of CHS undergo a variable period of recurrent infections before entering the accelerated phase, but primary presentation in the accelerated phase has also been reported. [14, 15]

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