What is included in the long-term monitoring of cartilage-hair hypoplasia (CHH)?

Updated: Aug 06, 2019
  • Author: Alan P Knutsen, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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Answer

In children, the greatest mortality rate associated with cartilage-hair hypoplasia (CHH) occurs in young patients with severely impaired T-cell immune function. These patients should probably be evaluated yearly during early childhood. Closely monitor T-cell and B-cell immune function in these patients.

In adults, the greatest morbidity and mortality is related chronic lung disease secondary to their immunodeficiency. In addition, the risk for malignancy, such as lymphoma, increases with age. Yearly CBC count to monitor for lymphoma is recommended.


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