What is included in the long-term monitoring 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

Even though there are no general recommendations for clinical follow-up of patients with adult-onset Chédiak-Higashi syndrome (CHS), regular screening might include physical examination and/or abdominal ultrasound to monitor for hepatosplenomegaly, blood cell counts to evaluate cytopenias, biochemical tests to assess for signs of liver dysfunction, including serum ferritin levels, hypertriglyceridemia, and/or hypofibrinogenemia. [14, 23]


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