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Familial hypercholesterolemia due to genetic defect of apolipoprotein B

MedGen UID:
698725
•Concept ID:
C1275461
•
Disease or Syndrome
Synonyms: Familial Combined Hypercholesterolemia; Hypercholesterolemia due to apolipoprotein B gene defect
SNOMED CT: Familial hypercholesterolemia due to genetic defect of apolipoprotein B (403831006); Hypercholesterolemia due to apolipoprotein B gene defect (403831006); Familial Combined Hypercholesterolemia (403831006)

Professional guidelines

PubMed

New Horizons in the Pathogenesis, Pathophysiology and Treatment of Familial Hypercholesterolaemia.
Viigimaa M, Heinsar S, Lovic D, Katsimardou A, Piperidou A, Duishvili D
Curr Pharm Des 2018;24(31):3599-3604. doi: 10.2174/1381612824666181009105305. PMID: 30306860
The severe hypercholesterolemia phenotype: clinical diagnosis, management, and emerging therapies.
Sniderman AD, Tsimikas S, Fazio S
J Am Coll Cardiol 2014 May 20;63(19):1935-47. Epub 2014 Mar 12 doi: 10.1016/j.jacc.2014.01.060. PMID: 24632267
Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment.
Raal FJ, Santos RD
Atherosclerosis 2012 Aug;223(2):262-8. Epub 2012 Feb 16 doi: 10.1016/j.atherosclerosis.2012.02.019. PMID: 22398274

Recent clinical studies

Etiology

Gene and cell therapy approaches for familial hypercholesterolemia: An update.
Parsamanesh N, Kooshkaki O, Siami H, Santos RD, Jamialahmadi T, Sahebkar A
Drug Discov Today 2023 Mar;28(3):103470. Epub 2022 Dec 23 doi: 10.1016/j.drudis.2022.103470. PMID: 36572377
Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia.
Trinder M, Vikulova D, Pimstone S, Mancini GBJ, Brunham LR
Atherosclerosis 2022 Jan;340:35-43. Epub 2021 Dec 6 doi: 10.1016/j.atherosclerosis.2021.11.032. PMID: 34906840
Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.
Di Taranto MD, Giacobbe C, Fortunato G
Eur J Med Genet 2020 Apr;63(4):103831. Epub 2019 Dec 25 doi: 10.1016/j.ejmg.2019.103831. PMID: 31883481
Familial defective apolipoprotein B-100: A review.
Andersen LH, Miserez AR, Ahmad Z, Andersen RL
J Clin Lipidol 2016 Nov-Dec;10(6):1297-1302. Epub 2016 Sep 22 doi: 10.1016/j.jacl.2016.09.009. PMID: 27919345
Therapeutic Management of Familial Hypercholesterolemia: Current and Emerging Drug Therapies.
Patel RS, Scopelliti EM, Savelloni J
Pharmacotherapy 2015 Dec;35(12):1189-203. doi: 10.1002/phar.1672. PMID: 26684558

Diagnosis

Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia.
Trinder M, Vikulova D, Pimstone S, Mancini GBJ, Brunham LR
Atherosclerosis 2022 Jan;340:35-43. Epub 2021 Dec 6 doi: 10.1016/j.atherosclerosis.2021.11.032. PMID: 34906840
Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation.
Marco-Benedí V, Cenarro A, Laclaustra M, Larrea-Sebal A, Jarauta E, Lamiquiz-Moneo I, Calmarza P, Bea AM, Plana N, Pintó X, Martín C, Civeira F
Atherosclerosis 2022 May;349:211-218. Epub 2021 Aug 23 doi: 10.1016/j.atherosclerosis.2021.08.009. PMID: 34456049
Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.
Di Taranto MD, Giacobbe C, Fortunato G
Eur J Med Genet 2020 Apr;63(4):103831. Epub 2019 Dec 25 doi: 10.1016/j.ejmg.2019.103831. PMID: 31883481
Familial defective apolipoprotein B-100: A review.
Andersen LH, Miserez AR, Ahmad Z, Andersen RL
J Clin Lipidol 2016 Nov-Dec;10(6):1297-1302. Epub 2016 Sep 22 doi: 10.1016/j.jacl.2016.09.009. PMID: 27919345
Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment.
Raal FJ, Santos RD
Atherosclerosis 2012 Aug;223(2):262-8. Epub 2012 Feb 16 doi: 10.1016/j.atherosclerosis.2012.02.019. PMID: 22398274

Therapy

Gene and cell therapy approaches for familial hypercholesterolemia: An update.
Parsamanesh N, Kooshkaki O, Siami H, Santos RD, Jamialahmadi T, Sahebkar A
Drug Discov Today 2023 Mar;28(3):103470. Epub 2022 Dec 23 doi: 10.1016/j.drudis.2022.103470. PMID: 36572377
Reducing cardiovascular risk in patients with familial hypercholesterolemia: Risk prediction and lipid management.
Miname MH, Santos RD
Prog Cardiovasc Dis 2019 Sep-Oct;62(5):414-422. Epub 2019 Oct 25 doi: 10.1016/j.pcad.2019.10.003. PMID: 31669498
Therapeutic Management of Familial Hypercholesterolemia: Current and Emerging Drug Therapies.
Patel RS, Scopelliti EM, Savelloni J
Pharmacotherapy 2015 Dec;35(12):1189-203. doi: 10.1002/phar.1672. PMID: 26684558
Contemporary aspects of the biology and therapeutic regulation of the microsomal triglyceride transfer protein.
Hooper AJ, Burnett JR, Watts GF
Circ Res 2015 Jan 2;116(1):193-205. doi: 10.1161/CIRCRESAHA.116.304637. PMID: 25552696
Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment.
Raal FJ, Santos RD
Atherosclerosis 2012 Aug;223(2):262-8. Epub 2012 Feb 16 doi: 10.1016/j.atherosclerosis.2012.02.019. PMID: 22398274

Prognosis

Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients.
Rodríguez-Jiménez C, de la Peña G, Sanguino J, Poyatos-Peláez S, Carazo A, Martínez-Hernández PL, Arrieta F, Mostaza JM, Gómez-Coronado D, Rodríguez-Nóvoa S
Int J Mol Sci 2023 Apr 21;24(8) doi: 10.3390/ijms24087635. PMID: 37108800Free PMC Article
Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.
Zhang Q, Chang G, Tang Y, Gu S, Ding Y, Chen Y, Wang Y, Liu S, Wang J, Wang X
BMC Pediatr 2023 Mar 29;23(1):138. doi: 10.1186/s12887-023-03952-z. PMID: 36991406Free PMC Article
Gene and cell therapy approaches for familial hypercholesterolemia: An update.
Parsamanesh N, Kooshkaki O, Siami H, Santos RD, Jamialahmadi T, Sahebkar A
Drug Discov Today 2023 Mar;28(3):103470. Epub 2022 Dec 23 doi: 10.1016/j.drudis.2022.103470. PMID: 36572377
Reducing cardiovascular risk in patients with familial hypercholesterolemia: Risk prediction and lipid management.
Miname MH, Santos RD
Prog Cardiovasc Dis 2019 Sep-Oct;62(5):414-422. Epub 2019 Oct 25 doi: 10.1016/j.pcad.2019.10.003. PMID: 31669498
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
Soutar AK, Naoumova RP
Nat Clin Pract Cardiovasc Med 2007 Apr;4(4):214-25. doi: 10.1038/ncpcardio0836. PMID: 17380167

Clinical prediction guides

Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients.
Rodríguez-Jiménez C, de la Peña G, Sanguino J, Poyatos-Peláez S, Carazo A, Martínez-Hernández PL, Arrieta F, Mostaza JM, Gómez-Coronado D, Rodríguez-Nóvoa S
Int J Mol Sci 2023 Apr 21;24(8) doi: 10.3390/ijms24087635. PMID: 37108800Free PMC Article
Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation.
Marco-Benedí V, Cenarro A, Laclaustra M, Larrea-Sebal A, Jarauta E, Lamiquiz-Moneo I, Calmarza P, Bea AM, Plana N, Pintó X, Martín C, Civeira F
Atherosclerosis 2022 May;349:211-218. Epub 2021 Aug 23 doi: 10.1016/j.atherosclerosis.2021.08.009. PMID: 34456049
Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.
Di Taranto MD, Giacobbe C, Fortunato G
Eur J Med Genet 2020 Apr;63(4):103831. Epub 2019 Dec 25 doi: 10.1016/j.ejmg.2019.103831. PMID: 31883481
Reducing cardiovascular risk in patients with familial hypercholesterolemia: Risk prediction and lipid management.
Miname MH, Santos RD
Prog Cardiovasc Dis 2019 Sep-Oct;62(5):414-422. Epub 2019 Oct 25 doi: 10.1016/j.pcad.2019.10.003. PMID: 31669498
Familial defective apolipoprotein B-100: A review.
Andersen LH, Miserez AR, Ahmad Z, Andersen RL
J Clin Lipidol 2016 Nov-Dec;10(6):1297-1302. Epub 2016 Sep 22 doi: 10.1016/j.jacl.2016.09.009. PMID: 27919345

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