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Hypobetalipoproteinemia

MedGen UID:
6978
Concept ID:
C0020597
Disease or Syndrome
Synonyms: Familial Hypobetalipoproteinemia; Hypo beta Lipoproteinemia; Hypo beta Lipoproteinemias; Hypobetalipoproteinemias
SNOMED CT: Hypo-beta-lipoproteinemia (190786004)
 
Monarch Initiative: MONDO:0017774
Orphanet: ORPHA31154

Definition

Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. [from ORDO]

Professional guidelines

PubMed

Wakabayashi T, Takahashi M, Okazaki H, Okazaki S, Yokote K, Tada H, Ogura M, Ishigaki Y, Yamashita S, Harada-Shiba M; Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Disease of the Ministry of Health, Labour and Welfare of Japan
J Atheroscler Thromb 2024 Jul 1;31(7):1005-1023. Epub 2024 May 3 doi: 10.5551/jat.RV22018. PMID: 38710625Free PMC Article
Bredefeld C, Hussain MM, Averna M, Black DD, Brin MF, Burnett JR, Charrière S, Cuerq C, Davidson NO, Deckelbaum RJ, Goldberg IJ, Granot E, Hegele RA, Ishibashi S, Karmally W, Levy E, Moulin P, Okazaki H, Poinsot P, Rader DJ, Takahashi M, Tarugi P, Traber MG, Di Filippo M, Peretti N
J Clin Lipidol 2022 Nov-Dec;16(6):797-812. Epub 2022 Sep 29 doi: 10.1016/j.jacl.2022.08.009. PMID: 36243606
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article

Recent clinical studies

Etiology

Gill PK, Hegele RA
Expert Rev Endocrinol Metab 2023 May;18(3):241-253. Epub 2023 Apr 23 doi: 10.1080/17446651.2023.2204932. PMID: 37089071
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
Martínez-Hervás S, Real-Collado JT, Ascaso-Gimilio JF
Clin Investig Arterioscler 2021 May;33 Suppl 2:63-68. doi: 10.1016/j.arteri.2020.12.011. PMID: 34006356
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Moutzouri E, Elisaf M, Liberopoulos EN
Curr Vasc Pharmacol 2011 Mar;9(2):200-12. doi: 10.2174/157016111794519354. PMID: 20626336

Diagnosis

Camacho A, Ariza MJ, Amigó N, Macías Guillén P, Sánchez Chaparro MÁ, Valdivielso P
Clin Investig Arterioscler 2023 Sep-Oct;35(5):244-247. Epub 2023 Jun 9 doi: 10.1016/j.arteri.2023.05.003. PMID: 37302939
Bredefeld C, Hussain MM, Averna M, Black DD, Brin MF, Burnett JR, Charrière S, Cuerq C, Davidson NO, Deckelbaum RJ, Goldberg IJ, Granot E, Hegele RA, Ishibashi S, Karmally W, Levy E, Moulin P, Okazaki H, Poinsot P, Rader DJ, Takahashi M, Tarugi P, Traber MG, Di Filippo M, Peretti N
J Clin Lipidol 2022 Nov-Dec;16(6):797-812. Epub 2022 Sep 29 doi: 10.1016/j.jacl.2022.08.009. PMID: 36243606
Hooper AJ, Burnett JR
Curr Atheroscler Rep 2014 Jul;16(7):423. doi: 10.1007/s11883-014-0423-3. PMID: 24781598
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Moutzouri E, Elisaf M, Liberopoulos EN
Curr Vasc Pharmacol 2011 Mar;9(2):200-12. doi: 10.2174/157016111794519354. PMID: 20626336

Therapy

Zhou H, Gong Y, Wu Q, Ye X, Yu B, Lu C, Jiang W, Ye J, Fu Z
Adv Exp Med Biol 2020;1276:171-188. doi: 10.1007/978-981-15-6082-8_11. PMID: 32705600
Whayne TF
Curr Vasc Pharmacol 2017;15(4):374-379. doi: 10.2174/1570161115666170227102708. PMID: 28245773
Burnett JR, Hooper AJ
Free Radic Biol Med 2015 Nov;88(Pt A):59-62. Epub 2015 Jun 16 doi: 10.1016/j.freeradbiomed.2015.05.044. PMID: 26086616
Hooper AJ, Burnett JR
Curr Atheroscler Rep 2014 Jul;16(7):423. doi: 10.1007/s11883-014-0423-3. PMID: 24781598
Kostis WJ
Curr Atheroscler Rep 2014 Feb;16(2):388. doi: 10.1007/s11883-013-0388-7. PMID: 24395389

Prognosis

Gill PK, Hegele RA
Expert Rev Endocrinol Metab 2023 May;18(3):241-253. Epub 2023 Apr 23 doi: 10.1080/17446651.2023.2204932. PMID: 37089071
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
Le R, Zhao L, Hegele RA
J Clin Lipidol 2022 Mar-Apr;16(2):155-159. Epub 2022 Feb 12 doi: 10.1016/j.jacl.2022.02.003. PMID: 35221233
Lee J, Hegele RA
J Inherit Metab Dis 2014 May;37(3):333-9. Epub 2013 Nov 28 doi: 10.1007/s10545-013-9665-4. PMID: 24288038
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article

Clinical prediction guides

Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
Le R, Zhao L, Hegele RA
J Clin Lipidol 2022 Mar-Apr;16(2):155-159. Epub 2022 Feb 12 doi: 10.1016/j.jacl.2022.02.003. PMID: 35221233
Wang LR, McIntyre AD, Hegele RA
Lipids Health Dis 2018 Mar 14;17(1):48. doi: 10.1186/s12944-018-0680-1. PMID: 29540175Free PMC Article
Tarugi P, Averna M, Di Leo E, Cefalù AB, Noto D, Magnolo L, Cattin L, Bertolini S, Calandra S
Atherosclerosis 2007 Dec;195(2):e19-27. Epub 2007 Jun 14 doi: 10.1016/j.atherosclerosis.2007.05.003. PMID: 17570373
Schonfeld G
Annu Rev Nutr 1995;15:23-34. doi: 10.1146/annurev.nu.15.070195.000323. PMID: 8527219

Recent systematic reviews

Lima Pessoa E, Costa Vilella Dos Reis M, Sayuri Yamamoto T, Ribeiro Neto M, Ferraro O, Alves MJ, Guedes Coelho Lopes R
Breast J 2019 Jul;25(4):763-765. Epub 2019 May 20 doi: 10.1111/tbj.13341. PMID: 31111608
Noto D, Arca M, Tarugi P, Cefalù AB, Barbagallo CM, Averna MR
Acta Diabetol 2017 Feb;54(2):111-122. Epub 2016 Nov 2 doi: 10.1007/s00592-016-0931-4. PMID: 27804036

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