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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

Vinci P, Di Girolamo FG, Panizon E, Tosoni LM, Cerrato C, Pellicori F, Altamura N, Pirulli A, Zaccari M, Biasinutto C, Roni C, Fiotti N, Schincariol P, Mangogna A, Biolo G
Int J Environ Res Public Health 2023 Sep 6;20(18) doi: 10.3390/ijerph20186721. PMID: 37754581Free PMC Article
Kassner U, Wühle-Demuth M, Missala I, Humphries SE, Steinhagen-Thiessen E, Demuth I
Eur J Hum Genet 2014 Jul;22(7) Epub 2013 Nov 20 doi: 10.1038/ejhg.2013.271. PMID: 24253857Free PMC Article
Levy RI, Fredrickson DS
Am J Cardiol 1968 Oct;22(4):576-83. doi: 10.1016/0002-9149(68)90165-3. PMID: 4880101

Recent clinical studies

Etiology

Chait A
Curr Opin Endocrinol Diabetes Obes 2024 Apr 1;31(2):78-83. Epub 2023 Nov 23 doi: 10.1097/MED.0000000000000846. PMID: 37994661
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
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
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
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
Chait A, Brunzell JD
Adv Intern Med 1992;37:249-73. PMID: 1557997

Therapy

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
Raal FJ, Kallend D, Ray KK, Turner T, Koenig W, Wright RS, Wijngaard PLJ, Curcio D, Jaros MJ, Leiter LA, Kastelein JJP; ORION-9 Investigators
N Engl J Med 2020 Apr 16;382(16):1520-1530. Epub 2020 Mar 18 doi: 10.1056/NEJMoa1913805. PMID: 32197277
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
Witztum JL, Gaudet D, Freedman SD, Alexander VJ, Digenio A, Williams KR, Yang Q, Hughes SG, Geary RS, Arca M, Stroes ESG, Bergeron J, Soran H, Civeira F, Hemphill L, Tsimikas S, Blom DJ, O'Dea L, Bruckert E
N Engl J Med 2019 Aug 8;381(6):531-542. doi: 10.1056/NEJMoa1715944. PMID: 31390500
Thompson GR
Atherosclerosis 2003 Mar;167(1):1-13. doi: 10.1016/s0021-9150(02)00251-4. PMID: 12618263

Prognosis

Bláha M, Veletová K, Blaha V, Lánská M, Žák P
Ther Apher Dial 2022 Dec;26 Suppl 1:89-96. Epub 2022 Dec 5 doi: 10.1111/1744-9987.13841. PMID: 36468316
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
Repas TB, Tanner JR
J Am Osteopath Assoc 2014 Feb;114(2):99-108. doi: 10.7556/jaoa.2014.023. PMID: 24481802
Chait A, Brunzell JD
Adv Intern Med 1992;37:249-73. PMID: 1557997

Clinical prediction guides

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
Medeiros AM, Bourbon M
Curr Opin Lipidol 2021 Dec 1;32(6):392-395. doi: 10.1097/MOL.0000000000000787. PMID: 34751168
Tokgozoglu L, Kayikcioglu M
Curr Cardiol Rep 2021 Sep 4;23(10):151. doi: 10.1007/s11886-021-01565-5. PMID: 34480646
Paquette M, Baass A
Curr Opin Lipidol 2018 Aug;29(4):299-306. doi: 10.1097/MOL.0000000000000519. PMID: 29708923
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

Ziółkowska S, Kijek N, Zendran I, Szuster E, Barg E
Pediatr Endocrinol Diabetes Metab 2022;28(2):152-161. doi: 10.5114/pedm.2022.116112. PMID: 35848473Free PMC Article
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

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