5th February 2024

Causes of primary hyperlipidaemia

Classification of lipid metabolic disorders depends on the changes in concentration of the various lipids. The following table classifies primary hyperlipidaemia into 5 types:

Frederickson’s classification of primary hyperlipidaemia	Condition	Defect	Features	Changes in various types of lipids
I	Lipoprotein lipase deficiency	Mutant or absent LDL	Eruptive xanthoma, lipaemia retinitis, retinal vein thrombosis, pancreatitis, hepatosplenomegaly	Elevated chylomicrons, elevated triglycerides
II	Primary hypercholesterolaemia	LDL receptor dysfunction	Xanthelasma, corneal arcus, tendon xanthomas	IIa- elevated LDL IIb- elevated LDL & VLDL Raised cholesterol Triglyceride normal HDL normal
III	Remnant hyperlipidaemia/familial dysbetalipoproteinaemia	Mutant apo E	Peripheral vascular disease, tuberoeruptive xanthoma, palmar xanthoma	Elevated IDL, VLDL Raised chylomicrons, triglycerides Raised cholesterol
IV	Familial combined/mixed hyperlipidaemia		Cardiovascular disease Absence of peripheral stigmata Associated with uncontrolled diabetes and excess alcohol	Raised (or normal) cholesterol and triglycerides Raised VLDL Reduced HDL
V	Familial triglyceridaemia	Unknown		Raised triglycerides Mildly raised cholesterol Elevated VLDL and chylomicrons Reduced HDL

Table 1: Classification of lipid metabolism disorders. Own table.

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