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Hyperlipoproteinemia

MedGen UID:
9363
Concept ID:
C0020476
Disease or Syndrome
Synonym: Hyperlipoproteinemias
SNOMED CT: Hyperlipoproteinemia (3744001)
 
Related genes: APOA5, PPP1R17, LPL, LDLR, GHR, EPHX2, APOE, APOA2
 
HPO: HP:0010980
Monarch Initiative: MONDO:0037748

Definition

An abnormal increase in the level of lipoprotein cholesterol in the blood. [from HPO]

Conditions with this feature

Chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase
MedGen UID:
348391
Concept ID:
C1861560
Disease or Syndrome
Hyperlipoproteinemia, type 1D
MedGen UID:
863204
Concept ID:
C4014767
Disease or Syndrome
Hyperlipoproteinemia type ID is a rare autosomal recessive disorder characterized by impaired clearance of triglyceride (TG)-rich lipoproteins in plasma, leading to severe hypertriglyceridemia (chylomicronemia). Clinical features include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, episodes of abdominal pain, and pancreatitis. Onset usually occurs in adulthood (summary by Brahm and Hegele, 2013). For a discussion of genetic heterogeneity of familial chylomicronemia, see 238600.

Professional guidelines

PubMed

Lee CJ, Yoon M, Kang HJ, Kim BJ, Choi SH, Jeong IK, Lee SH; Task Force Team for Familial Hypercholesterolemia; Korean Society of Lipid and Atherosclerosis
Korean J Intern Med 2022 Sep;37(5):931-944. Epub 2022 Jul 27 doi: 10.3904/kjim.2022.121. PMID: 35882565Free PMC Article
Berberich AJ, Hegele RA
Expert Opin Pharmacother 2017 Aug;18(12):1261-1268. Epub 2017 Jul 30 doi: 10.1080/14656566.2017.1340941. PMID: 28598687
Kane JP, Malloy MJ
Annu Rev Med 1990;41:471-82. doi: 10.1146/annurev.me.41.020190.002351. PMID: 2184745

Recent clinical studies

Etiology

Wierzbicki AS, Kim EJ, Esan O, Ramachandran R
J Clin Pathol 2022 Dec;75(12):798-806. Epub 2022 Jun 16 doi: 10.1136/jclinpath-2021-207719. PMID: 35710321
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
Maliachova O, Stabouli S
Curr Pharm Des 2018;24(31):3672-3677. doi: 10.2174/1381612824666181010145807. PMID: 30317987

Diagnosis

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
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
Maliachova O, Stabouli S
Curr Pharm Des 2018;24(31):3672-3677. doi: 10.2174/1381612824666181010145807. PMID: 30317987
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857

Therapy

Ruscica M, Sirtori CR, Corsini A, Watts GF, Sahebkar A
Pharmacol Res 2021 Nov;173:105812. Epub 2021 Aug 24 doi: 10.1016/j.phrs.2021.105812. PMID: 34450317
Wright RS, Ray KK, Raal FJ, Kallend DG, Jaros M, Koenig W, Leiter LA, Landmesser U, Schwartz GG, Friedman A, Wijngaard PLJ, Garcia Conde L, Kastelein JJP; ORION Phase III Investigators
J Am Coll Cardiol 2021 Mar 9;77(9):1182-1193. doi: 10.1016/j.jacc.2020.12.058. PMID: 33663735
Barkas F, Nomikos T, Liberopoulos E, Panagiotakos D
Nutrients 2020 Aug 13;12(8) doi: 10.3390/nu12082436. PMID: 32823643Free 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
Sniderman AD, Thanassoulis G, Glavinovic T, Navar AM, Pencina M, Catapano A, Ference BA
JAMA Cardiol 2019 Dec 1;4(12):1287-1295. doi: 10.1001/jamacardio.2019.3780. PMID: 31642874Free PMC Article

Prognosis

Tokgozoglu L, Kayikcioglu M
Curr Cardiol Rep 2021 Sep 4;23(10):151. doi: 10.1007/s11886-021-01565-5. PMID: 34480646
Gouni-Berthold I, Alexander VJ, Yang Q, Hurh E, Steinhagen-Thiessen E, Moriarty PM, Hughes SG, Gaudet D, Hegele RA, O'Dea LSL, Stroes ESG, Tsimikas S, Witztum JL; COMPASS study group
Lancet Diabetes Endocrinol 2021 May;9(5):264-275. Epub 2021 Mar 30 doi: 10.1016/S2213-8587(21)00046-2. PMID: 33798466
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
Vinson A, Guerra L, Hamilton L, Wilson DP, Fnla
J Pediatr Nurs 2019 Jan-Feb;44:50-55. Epub 2018 Oct 24 doi: 10.1016/j.pedn.2018.09.011. PMID: 30683281
Berberich AJ, Hegele RA
Nat Rev Cardiol 2019 Jan;16(1):9-20. doi: 10.1038/s41569-018-0052-6. PMID: 29973710

Clinical prediction guides

Alonso R, Argüeso R, Álvarez-Baños P, Muñiz-Grijalvo O, Diaz-Diaz JL, Mata P
Curr Atheroscler Rep 2022 Jun;24(6):427-434. Epub 2022 Apr 7 doi: 10.1007/s11883-022-01019-5. PMID: 35386090
Tokgozoglu L, Kayikcioglu M
Curr Cardiol Rep 2021 Sep 4;23(10):151. doi: 10.1007/s11886-021-01565-5. PMID: 34480646
Antoniazzi L, Arroyo-Olivares R, Bittencourt MS, Tada MT, Lima I, Jannes CE, Krieger JE, Pereira AC, Quintana-Navarro G, Muñiz-Grijalvo O, Díaz-Díaz JL, Alonso R, Mata P, Santos RD
Nutr Metab Cardiovasc Dis 2021 Jun 30;31(7):2014-2022. Epub 2021 Apr 19 doi: 10.1016/j.numecd.2021.04.006. PMID: 34039501
Dron JS, Hegele RA
Front Endocrinol (Lausanne) 2020;11:455. Epub 2020 Jul 24 doi: 10.3389/fendo.2020.00455. PMID: 32793115Free PMC Article
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

Recent systematic reviews

Chen R, Lin S, Chen X
J Clin Lab Anal 2022 Jul;36(7):e24552. Epub 2022 Jun 17 doi: 10.1002/jcla.24552. PMID: 35712827Free PMC Article
Barkas F, Nomikos T, Liberopoulos E, Panagiotakos D
Nutrients 2020 Aug 13;12(8) doi: 10.3390/nu12082436. PMID: 32823643Free PMC Article
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
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, Drogari E, Ramaswami U
Cochrane Database Syst Rev 2017 Jul 7;7(7):CD006401. doi: 10.1002/14651858.CD006401.pub4. PMID: 28685504Free PMC Article
Turgeon RD, Barry AR, Pearson GJ
Can Fam Physician 2016 Jan;62(1):32-7. PMID: 26796832Free PMC Article

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