EDITORIAL COMMENT URRENT C OPINION
Management of homozygous familial hypercholesterolaemia Vinay S. Eligar, Laxmi N.R. Bondugulapati, and Alan Rees
Homozygous familial hypercholesterolaemia (HoFH) is a rare disorder with an extremely high risk of premature death because of cardiovascular disease. It should be diagnosed and treated from childhood onwards. Clinically, HoFH is characterized by the onset in childhood of cutaneous tendon xanthomata, corneal arcus and extremely elevated levels of plasma or serum total cholesterol levels ranging from 15 to 30 mmol/l (mainly in the LDL particle). In HoFH, severe atheromatous involvement of the aortic root is often evident by puberty and is accompanied by functional aortic stenosis with a gradient across the aortic valve, and angiographic narrowing of the aortic root accompanied by coronary ostial stenosis. This results in sudden death from myocardial infarction in childhood or adolescence. The disorder is difficult to treat and currently available therapies rarely achieve optimal LDL-cholesterol concentrations. However, in a retrospective study, lipid-lowering therapy, especially utilizing statin therapy, delayed the onset of cardiovascular events and prolonged survival of patients with HoFH despite only a modest reduction in LDL-cholesterol [1]. The introduction of lipoprotein apheresis has also ameliorated the clinical severity of the condition and when available should be performed at weekly or fortnightly intervals combined with maximum tolerated doses of high impact statins such as Rosuvastatin and Atorvastatin plus Ezetimibe. The most recent statement on target levels for homozygous familial hypercholesterolaemia advocates lowering LDL-cholesterol to
Management of homozygous familial hypercholesterolaemia Vinay S. Eligar, Laxmi N.R. Bondugulapati, and Alan Rees
Homozygous familial hypercholesterolaemia (HoFH) is a rare disorder with an extremely high risk of premature death because of cardiovascular disease. It should be diagnosed and treated from childhood onwards. Clinically, HoFH is characterized by the onset in childhood of cutaneous tendon xanthomata, corneal arcus and extremely elevated levels of plasma or serum total cholesterol levels ranging from 15 to 30 mmol/l (mainly in the LDL particle). In HoFH, severe atheromatous involvement of the aortic root is often evident by puberty and is accompanied by functional aortic stenosis with a gradient across the aortic valve, and angiographic narrowing of the aortic root accompanied by coronary ostial stenosis. This results in sudden death from myocardial infarction in childhood or adolescence. The disorder is difficult to treat and currently available therapies rarely achieve optimal LDL-cholesterol concentrations. However, in a retrospective study, lipid-lowering therapy, especially utilizing statin therapy, delayed the onset of cardiovascular events and prolonged survival of patients with HoFH despite only a modest reduction in LDL-cholesterol [1]. The introduction of lipoprotein apheresis has also ameliorated the clinical severity of the condition and when available should be performed at weekly or fortnightly intervals combined with maximum tolerated doses of high impact statins such as Rosuvastatin and Atorvastatin plus Ezetimibe. The most recent statement on target levels for homozygous familial hypercholesterolaemia advocates lowering LDL-cholesterol to
