What is the role of imaging studies in the workup of familial hypercholesterolemia (FH)?

Updated: Oct 04, 2021
  • Author: Mose July, MD, CCD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Patients with homozygous FH should receive Doppler echocardiographic evaluation of the heart and aorta annually and, if available, computed-tomography coronary angiography every 5 years or more frequently if clinically indicated, taking into account the radiation exposure and severity of subclinical disease.

Children with homozygous FH should be referred to a pediatric cardiologist for consideration of vascular imaging studies (Pet scan, determination of carotid intima medial thickness, coronary catheterization) that can direct treatment for hypercholesterolemia.

Radiographic imaging of the Achilles tendon helps accurately measure Achilles tendon xanthomas, but the findings do not change lipid management.

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