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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
Kosmas CE, Bousvarou MD, Papakonstantinou EJ, Tsamoulis D, Koulopoulos A, Echavarria Uceta R, Guzman E, Rallidis LS
Int J Mol Sci 2023 Sep 3;24(17) doi: 10.3390/ijms241713622. PMID: 37686428Free PMC Article
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

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
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

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
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
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857

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
Farnier M
Curr Opin Lipidol 2013 Jun;24(3):251-8. doi: 10.1097/MOL.0b013e3283613a3d. PMID: 23652470

Prognosis

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
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
Vallejo-Vaz AJ, Ray KK
Atherosclerosis 2018 Oct;277:289-297. doi: 10.1016/j.atherosclerosis.2018.06.855. PMID: 30270061
Chait A, Brunzell JD
Adv Intern Med 1992;37:249-73. PMID: 1557997

Clinical prediction guides

Olmastroni E, Gazzotti M, Averna M, Arca M, Tarugi P, Calandra S, Bertolini S, Catapano AL, Casula M; LIPIGEN Study Group *
J Am Heart Assoc 2023 May 16;12(10):e029223. Epub 2023 May 15 doi: 10.1161/JAHA.122.029223. PMID: 37183858Free PMC Article
Dron JS
Curr Opin Lipidol 2023 Apr 1;34(2):44-51. Epub 2022 Dec 27 doi: 10.1097/MOL.0000000000000865. PMID: 36602940
Tokgozoglu L, Kayikcioglu M
Curr Cardiol Rep 2021 Sep 4;23(10):151. doi: 10.1007/s11886-021-01565-5. PMID: 34480646
Dron JS, Hegele RA
Front Endocrinol (Lausanne) 2020;11:455. Epub 2020 Jul 24 doi: 10.3389/fendo.2020.00455. PMID: 32793115Free PMC Article
Boot CS, Luvai A, Neely RDG
Crit Rev Clin Lab Sci 2020 Nov;57(7):458-469. Epub 2020 Apr 7 doi: 10.1080/10408363.2020.1745142. PMID: 32255405

Recent systematic reviews

Stătescu C, Anghel L, Benchea LC, Tudurachi BS, Leonte A, Zăvoi A, Zota IM, Prisacariu C, Radu R, Șerban IL, Sascău RA
Int J Mol Sci 2023 Mar 21;24(6) doi: 10.3390/ijms24065927. PMID: 36983001Free 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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