A young man speaks to his GP as he is concerned about having a heart attack. His father had a heart attack aged 41, his grandfather died of a heart attack aged 58 and 2 of his uncles have had heart attacks in their 40s. What is the most likely genetic background?
2.Familial lipoprotein lipase deficiency
5.Familial apoprotein CII deficiency
Familial hypercholesterolaemia is genetic defect in which the LDL receptor is abnormal which results in high levels of serum LDL and thus increasing cardiovascular disease. Hyperhomocysteinaemia does increase cardiovascular risk but not to the extent of familial hypercholesterolaemia. The other conditions do not increase cardiovascular risk significantly.