Familial combined hyperlipidaemia

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.

Reference

1. Vaverková H, Karásek D. [Familial combined hyperlipidemia - the most common genetic dyslipidemia in population and in patients with premature atherothrombotic cardiovascular disease]. Vnitr Lek. 2018 Winter;64(1):25-29.