2nd April 2024

Clinical manifestations

Hyperlipidaemia is usually asymptomatic and diagnosed by performing a blood lipid profile. This may be a routine test or requested specifically, where patients present with the consequences of having high lipids (stroke, MI). Small non-tender fatty deposits called xanthelasma may be seen around the eyes, although these can be seen in those without hyperlipidaemia. 

Xanthomas contain cholesterol and fat deposits that occur in cases of chronic cholestasis (more than three months). There are various types that can involve bone and peripheral nerves: 

• Palmar xanthoma – yellow discolouration of palmar creases seen in remnant hyperlipidaemia, less commonly in familial hypercholesterolaemia.
• Eruptive xanthoma – high triglyceride levels result in red/yellow vesicles to extensor surfaces of knees and elbows. This is seen in familial hypertriglyceridemia and lipoprotein lipase deficiency.
• Tendon and tuberous xanthoma. Seen in familial hypercholesterolaemia and remnant hyperlipidaemia. 
• Xanthoma treatment options include topical trichloroacetic acid, surgical excision, laser therapy, and electrodesiccation.