familial combined hyperlipidaemia
Last reviewed 05/2023
This condition causes a variable increase in cholesterol (6.5-10 mmol/L) and triglycerides (2.3-12 mmol/L). It is the second commonest primary hyperlipidaemia (after polygenic hypercholesterolaemia).
Patients presenting with this condition are:
- generally over 30 years of age
- often overweight
- often insulin resistance or diabetes mellitus
- often hypertension
- may have premature coronary heart disease
- there may be different lipoprotein abnormalities in different generations
- xanthelasma but tendon xanthomata do not occur. Often, corneal arcus is present
Previously this disorder was thought to have a dominant inheritance although now it appears that affected families have a type of polygenic hyperlipidaemia, resulting in variable phenotypes among family members.
This condition may be seen about 0.5 %-1% of the general population and in up to 15% of patients suffering myocardial infarctions who were less than 60 years old at the time of the myocardial infarction.
mechanism of development of polygenic hypercholesterolaemia and familial combined hyperlipidaemia