The Clinical Importance of Differentiating Monogenic Familial Hypercholesterolemia from Polygenic Hypercholesterolemia

[1] Stein EA(2013)Polygenic familial hypercholesterolaemia: does it matter? Lancet 381 1255-1257

[2] Raal FJ(2003)Monogenic hypercholesterolemia: new insights in pathogenesis and treatment J Clin Invest 111 1795-1803

[3] Rader DJ(2019)Risk of premature atherosclerotic disease in patients with monogenic versus polygenic familial hypercholesterolemia J Am Coll Cardiol 74 512-522

[4] Cohen J(2013)Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease Eur Heart J 34 3478-3490

[5] Hobbs HH(2020)Genetics of familial hypercholesterolemia: new insights Front Genet 11 1-10

[6] Trinder M(2021)The clinical applicability of polygenic risk scores for LDL-cholesterol: considerations, current evidence and future perspectives Curr Opin Lipidol 32 112-116

[7] Li X(2005)Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia Pharmacogenet Genomics 15 219-225

[8] DeCastro ML(2001)Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol J Clin Endocrinol Metab 86 4926-4932

[9] Cermakova L(2019)Genetic testing and risk scores: impact on familial hypercholesterolemia Front Cardiovasc Med 6 1-7

[10] Sadananda S(2004)Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review Am J Epidemiol 160 407-420

[1] Stein EA(2013)Polygenic familial hypercholesterolaemia: does it matter? Lancet 381 1255-1257

[2] Raal FJ(2003)Monogenic hypercholesterolemia: new insights in pathogenesis and treatment J Clin Invest 111 1795-1803

[3] Rader DJ(2019)Risk of premature atherosclerotic disease in patients with monogenic versus polygenic familial hypercholesterolemia J Am Coll Cardiol 74 512-522

[4] Cohen J(2013)Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease Eur Heart J 34 3478-3490

[5] Hobbs HH(2020)Genetics of familial hypercholesterolemia: new insights Front Genet 11 1-10

[6] Trinder M(2021)The clinical applicability of polygenic risk scores for LDL-cholesterol: considerations, current evidence and future perspectives Curr Opin Lipidol 32 112-116

[7] Li X(2005)Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia Pharmacogenet Genomics 15 219-225

[8] DeCastro ML(2001)Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol J Clin Endocrinol Metab 86 4926-4932

[9] Cermakova L(2019)Genetic testing and risk scores: impact on familial hypercholesterolemia Front Cardiovasc Med 6 1-7

[10] Sadananda S(2004)Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review Am J Epidemiol 160 407-420