1. What are we able to achieve today for our patients with homozygous familial hypercholesterolaemia, and what are the unmet needs? 
Raul D. Santos 
Atherosclerosis Supplements 
Volume 15, Issue 2, Pages (September 2014)
DOI: /j.atherosclerosissup
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2. Fig. 1
Interdigital xanthomas are pathognomonic for homozygous familial hypercholesterolaemia.
Reprinted from Raal FJ, Santos RD., Atherosclerosis 2012;223:262–268, with permission from Elsevier [2].
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3. Fig. 2
Homozygous familial hypercholesterolaemia is typically caused by mutations in four known genes: low-density lipoprotein (LDL) receptor gene, proprotein convertase subtilisin/kexin 9 (PCSK9) gene, apolipoprotein B (Apo B) gene, LDL receptor adaptor protein 1 (LDLRAP1) gene [4,9–11].
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4. Fig. 3
Cumulative LDL exposure, expressed as grams of cholesterol per year, over a lifetime in individuals with and without familial hypercholesterolaemia, showing threshold for coronary heart disease.
Adapted Horton JD, et al., J Lipid Res 2009;50(Suppl):S172–7, with permission [27].
Atherosclerosis Supplements  , 19-25DOI: ( /j.atherosclerosissup )
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5. Fig. 4
Mean percentage reduction in LDL-C for patients with homozygous familial hypercholesterolaemia receiving ezetimibe plus statin therapy.
Adapted from Gagné C, et al., Circulation 2002;105:2469–2475, with permission [23].
Atherosclerosis Supplements  , 19-25DOI: ( /j.atherosclerosissup )
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6. Fig. 5
Case study: a 20-year old man who was asymptomatic with extensive xanthomata.
Reprinted from Rocha VZ, et al., J Am Coll Cardiol 2013;61:2193, with permission from Elsevier [26].
Atherosclerosis Supplements  , 19-25DOI: ( /j.atherosclerosissup )
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7. Fig. 6
Case study: coronary angiography (a) before and (b) after two drug-eluting stents.
Reprinted from Rocha VZ, et al., J Am Coll Cardiol 2013;61:2193, with permission from Elsevier [26].
Atherosclerosis Supplements  , 19-25DOI: ( /j.atherosclerosissup )
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