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Hypercholesterolaemia - familial - Management
Additional information
Tendon xanthomata:
- Appear in people with heterozygous FH from 20 years of age onwards (unless the person was started on a statin early in life), but are often evident in homozygous FH from childhood.
- May be difficult to detect.
- Are hard, non-tender, nodular enlargements of tendons.
- Are most commonly found on the dorsum (knuckles) of the hands and in the Achilles tendons, and may rarely be present on the extensor hallucis longus and triceps tendons.
- Feel hard because they are fibrotic, and may become inflamed in the Achilles tendons (sometimes presenting as chronic Achilles tenosynovitis, which may be exacerbated by a statin).
- Do not appear yellow; the overlying skin is of normal colour.
- Are highly suggestive of FH:
- But their absence does not exclude FH.
- Other types of xanthomata (such as xanthelasmata on the eyelids) and premature corneal arcus may occur in people with FH, but are less specific.
[WHO, 1998; Winder et al, 1998; Warrell et al, 2003; Moruisi et al, 2006]
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