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Familial hypercholesterolaemia (FH) may manifest with:
- tendon xanthomata are diagnostic hallmarks of FH. The only other causes of tendon
xanthomata are both very rare - phytosterolaemia and cerebrotendinous xanthomata.
- the most common sites for tendon xanthomata are in the tendons overlying
the Achilles tendons and the knuckles; less common sites include the extensor
hallucis longus tendon and the triceps tendon; may also occur on the tibial tuberosity
at the site of insertion of the patellar tendon (called a subperiosteal xanthomata)
overlying xanthomata is normal colour (i.e. does not appear yellow)
tendon xanthomata may become inflamed and patients may give a history of previous
- xanthomata affecting the tendons in the dorsum
of the hand are often fusiform or nodular - the hands should be examined with
the fingers extended because they overlie the knuckles and may be missed when
the fists are clenched (the xanthomata are as hard as bone)
- corneal arcus} - xanthelasma and corneal arcus are not
specific for FH but often may occur earlier in life in patients with FH than in
individuals with polygenic hypercholesterolaemia. Note also that many FH heterozygotes
with obvious tendon xanthomata may however not develop corneal arcus till later
in life and may never develop xanthelasma. This emphasises the importance of examining
for tendon xanthomata in all patients with hypercholesterolaemia (with or without
the presence of corneal arcus and/or xanthelasma)
- ischaemic heart disease
respect to heterozygous FH.
- total cholesterol is usually >9 mmol/l
in FH (2)
- FH people who have not already developed CHD have a CHD mortality
rate at least 10 times greater than the general population (2)
with heterozygous familial hypercholesterolaemia have a fourfold increased risk
of CHD (1)
- coronary heart disease begins in the 3rd decade
are at greater risk than women and, if untreated, 50-75% will have a myocardial
infarction by the age of 60 years
(2002). Hyperlipidaemia - guidance.
- JBS2: Joint British Societies'
guidelines on prevention of cardiovascular disease in clinical practice. Heart
2005; 91 (Supp 5).
Last reviewed 04/2021