What is familial hypercholesterolemia (FH)?

Updated: Oct 04, 2021
  • Author: Mose July, MD, CCD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Familial hypercholesterolemia (FH) is an autosomal dominant disorder that causes severe elevations in total cholesterol and low-density lipoprotein cholesterol (LDLc). [1, 2, 3]

Xanthomas are noted commonly on the Achilles tendons and metacarpal phalangeal extensor tendons of the hands of patients with untreated FH. See the image below.

Metacarpophalangeal joint tendon xanthomas in a 45 Metacarpophalangeal joint tendon xanthomas in a 45-year-old man with heterozygous familial hypercholesterolemia.

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