What is familial hypercholesterolemia (FH)?

Updated: Oct 04, 2021
  • Author: Mose July, MD, CCD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
  • Print
Answer

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.

Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!