Which of the following is a characteristic feature of familial hypercholesterolaemia? 1) Autosomal dominant inheritance 2) elevated chylomicrons 3) hypertriglyceridaemia 4) increased expression of LDL receptors 5) Palmar xanthomas
Answers-1 Familial hypercholesterolaemia is an autosomal dominant condition manifest by increased LDL concentrations (not chylomicrons) due to constitutional abnormalities and reduced numbers of the LDL receptor. Hypertriglyceridaemia is not characteristic and HDL concentrations are usually decreased. Tendon xanthomata are characteristic and the condition is associated with a premature cardiovascular mortality.