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Hypercholesterolemia, autosomal dominant, type B(FHCL2)

MedGen UID:
309962
Concept ID:
C1704417
Disease or Syndrome
Synonyms: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE; APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE; Familial hypercholesterolemia 2; Familial Hypercholesterolemia Type B; FHCL2; HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B; Hyperlipoproteinemia Type IIb
SNOMED CT: Familial hyperlipoproteinemia type IIb (238040008); FCHL - Familial combined hyperlipidemia (238040008); Fredrickson type IIb hyperlipoproteinemia (238040008); Hyperapobetalipoproteinemia (238040008); FDB - Familial defective apolipoprotein B-100 (238081000); Familial defective apolipoprotein B-100 (238081000)
 
APOB (2p24.1)
 
Monarch Initiative: MONDO:0007751
OMIM®: 144010
Authors:

Additional description

From MedlinePlus Genetics
People with familial hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease at a young age. This condition occurs when excess cholesterol in the bloodstream is deposited on the inner walls of blood vessels, particularly the arteries that supply blood to the heart (coronary arteries). The abnormal buildup of cholesterol forms clumps (plaques) that narrow and harden artery walls. As the plaques get bigger, they can clog the arteries and restrict the flow of blood to the heart. The buildup of plaques in coronary arteries causes a form of chest pain called angina and greatly increases a person's risk of having a heart attack.

Familial hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in tissues other than the heart and blood vessels. If cholesterol accumulates in the tissues that attach muscles to bones (tendons), it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons, which attach the calf muscles to the heels, and tendons in the hands and fingers. Yellowish cholesterol deposits can develop under the skin of the eyelids and are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.

Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. In people with familial hypercholesterolemia, the body is unable to get rid of extra cholesterol, and it builds up in the blood. Too much cholesterol increases a person's risk of developing heart disease.  https://medlineplus.gov/genetics/condition/familial-hypercholesterolemia

Clinical features

From HPO

Professional guidelines

Recent clinical studies

Etiology

Abifadel M, Boileau C
J Intern Med 2023 Feb;293(2):144-165. Epub 2022 Oct 17 doi: 10.1111/joim.13577. PMID: 36196022Free PMC Article
Zubielienė K, Valterytė G, Jonaitienė N, Žaliaduonytė D, Zabiela V
Medicina (Kaunas) 2022 Nov 17;58(11) doi: 10.3390/medicina58111665. PMID: 36422206Free PMC Article
Tokgozoglu L, Kayikcioglu M
Curr Cardiol Rep 2021 Sep 4;23(10):151. doi: 10.1007/s11886-021-01565-5. PMID: 34480646
McGowan MP, Hosseini Dehkordi SH, Moriarty PM, Duell PB
J Am Heart Assoc 2019 Dec 17;8(24):e013225. Epub 2019 Dec 16 doi: 10.1161/JAHA.119.013225. PMID: 31838973Free PMC Article
Benito-Vicente A, Uribe KB, Jebari S, Galicia-Garcia U, Ostolaza H, Martin C
Int J Mol Sci 2018 Nov 1;19(11) doi: 10.3390/ijms19113426. PMID: 30388787Free PMC Article

Diagnosis

Sawhney JPS, Madan K
Indian Heart J 2024 Mar;76 Suppl 1(Suppl 1):S108-S112. Epub 2024 Apr 8 doi: 10.1016/j.ihj.2023.12.002. PMID: 38599725Free PMC Article
Abifadel M, Boileau C
J Intern Med 2023 Feb;293(2):144-165. Epub 2022 Oct 17 doi: 10.1111/joim.13577. PMID: 36196022Free PMC Article
Zubielienė K, Valterytė G, Jonaitienė N, Žaliaduonytė D, Zabiela V
Medicina (Kaunas) 2022 Nov 17;58(11) doi: 10.3390/medicina58111665. PMID: 36422206Free PMC Article
McGowan MP, Hosseini Dehkordi SH, Moriarty PM, Duell PB
J Am Heart Assoc 2019 Dec 17;8(24):e013225. Epub 2019 Dec 16 doi: 10.1161/JAHA.119.013225. PMID: 31838973Free PMC Article
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857

Therapy

Sawhney JPS, Madan K
Indian Heart J 2024 Mar;76 Suppl 1(Suppl 1):S108-S112. Epub 2024 Apr 8 doi: 10.1016/j.ihj.2023.12.002. PMID: 38599725Free PMC Article
Tokgozoglu L, Kayikcioglu M
Curr Cardiol Rep 2021 Sep 4;23(10):151. doi: 10.1007/s11886-021-01565-5. PMID: 34480646
Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS
Nat Rev Dis Primers 2017 Dec 7;3:17093. doi: 10.1038/nrdp.2017.93. PMID: 29219151
Bouhairie VE, Goldberg AC
Cardiol Clin 2015 May;33(2):169-79. doi: 10.1016/j.ccl.2015.01.001. PMID: 25939291Free PMC Article
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857

Prognosis

Klevmoen M, Mulder JWCM, Roeters van Lennep JE, Holven KB
Curr Atheroscler Rep 2023 Nov;25(11):861-868. Epub 2023 Oct 10 doi: 10.1007/s11883-023-01155-6. PMID: 37815650Free PMC Article
Tokgozoglu L, Kayikcioglu M
Curr Cardiol Rep 2021 Sep 4;23(10):151. doi: 10.1007/s11886-021-01565-5. PMID: 34480646
Thompson GR
J Lipid Res 2021;62:100036. Epub 2021 Feb 6 doi: 10.1194/jlr.TR120001001. PMID: 32651185Free PMC Article
Lazarte J, Hegele RA
Can J Cardiol 2020 Sep;36(9):1362-1371. Epub 2020 Mar 23 doi: 10.1016/j.cjca.2020.03.020. PMID: 32640212
Luirink IK, Wiegman A, Kusters DM, Hof MH, Groothoff JW, de Groot E, Kastelein JJP, Hutten BA
N Engl J Med 2019 Oct 17;381(16):1547-1556. doi: 10.1056/NEJMoa1816454. PMID: 31618540

Clinical prediction guides

Le A, Peng H, Golinsky D, Di Scipio M, Lali R, Paré G
Curr Atheroscler Rep 2024 Jun;26(6):189-203. Epub 2024 Apr 4 doi: 10.1007/s11883-024-01200-y. PMID: 38573470
Paquette M, Baass A
Adv Clin Chem 2024;119:167-201. Epub 2024 Mar 6 doi: 10.1016/bs.acc.2024.02.004. PMID: 38514210
Tokgozoglu L, Kayikcioglu M
Curr Cardiol Rep 2021 Sep 4;23(10):151. doi: 10.1007/s11886-021-01565-5. PMID: 34480646
Lazarte J, Hegele RA
Can J Cardiol 2020 Sep;36(9):1362-1371. Epub 2020 Mar 23 doi: 10.1016/j.cjca.2020.03.020. PMID: 32640212
Wang J, Dron JS, Ban MR, Robinson JF, McIntyre AD, Alazzam M, Zhao PJ, Dilliott AA, Cao H, Huff MW, Rhainds D, Low-Kam C, Dubé MP, Lettre G, Tardif JC, Hegele RA
Arterioscler Thromb Vasc Biol 2016 Dec;36(12):2439-2445. Epub 2016 Oct 20 doi: 10.1161/ATVBAHA.116.308027. PMID: 27765764

Recent systematic reviews

Jahn B, Santamaria J, Dieplinger H, Binder CJ, Ebenbichler C, Scholl-Bürgi S, Conrads-Frank A, Rochau U, Kühne F, Stojkov I, Todorovic J, James L, Siebert U
Atherosclerosis 2022 Aug;355:15-29. Epub 2022 Jun 21 doi: 10.1016/j.atherosclerosis.2022.06.1011. PMID: 35870306
Barkas F, Nomikos T, Liberopoulos E, Panagiotakos D
Nutrients 2020 Aug 13;12(8) doi: 10.3390/nu12082436. PMID: 32823643Free PMC Article
Hu P, Dharmayat KI, Stevens CAT, Sharabiani MTA, Jones RS, Watts GF, Genest J, Ray KK, Vallejo-Vaz AJ
Circulation 2020 Jun 2;141(22):1742-1759. Epub 2020 May 29 doi: 10.1161/CIRCULATIONAHA.119.044795. PMID: 32468833
Beheshti SO, Madsen CM, Varbo A, Nordestgaard BG
J Am Coll Cardiol 2020 May 26;75(20):2553-2566. doi: 10.1016/j.jacc.2020.03.057. PMID: 32439005
Rosenson RS, Hegele RA, Koenig W
Circ Res 2019 Feb;124(3):364-385. doi: 10.1161/CIRCRESAHA.118.313238. PMID: 30702994

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2019
      American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, APOB, LDLR, PCSK9 Pathogenic Variants (Familial Hypercholesterolemia), 2019
    • CSANZ, 2016
      The Cardiac Society of Australia and New Zealand, Diagnosis and Management of Familial Hypercholesterolaemia – Position Statement

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