Case Studies| Volume 13, ISSUE 3, P393-396, May 2019

Severe hypercholesterolemia in a 2-year-old

Published:March 27, 2019DOI:


      • The ideal age for universal cholesterol screening has not been determined.
      • Thyroid hormone has a profound effect on lipid and lipoprotein metabolism.
      • Secondary causes of hypercholesterolemia should be excluded before therapy initiation.


      Routine and selective cholesterol screening of children is an effective tool to help identify those with familial hypercholesterolemia. In children found to have elevated levels of cholesterol, secondary causes should be excluded, including hypothyroidism. Thyroid hormone has multiple effects on the regulation of lipid synthesis, absorption, and metabolism. In this case report, we described a 2-year-old with a history of congenital hypothyroidism who was found to have severe hypercholesterolemia. A detailed medical history and appropriate screening tests are important in determining the underlying cause of elevated low-density lipoprotein cholesterol to help inform clinical decision-making.


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