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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

Hartz J
Curr Atheroscler Rep 2024 Dec;26(12):673-681. Epub 2024 Sep 10 doi: 10.1007/s11883-024-01238-y. PMID: 39254830
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
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
Whayne TF
Curr Vasc Pharmacol 2017;15(4):374-379. doi: 10.2174/1570161115666170227102708. PMID: 28245773
Welty FK
Curr Opin Lipidol 2014 Jun;25(3):161-8. doi: 10.1097/MOL.0000000000000072. PMID: 24751931Free PMC Article

Diagnosis

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
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
Welty FK
Curr Opin Lipidol 2014 Jun;25(3):161-8. doi: 10.1097/MOL.0000000000000072. PMID: 24751931Free PMC Article
Glueck CJ, Tsang RC, Mellies MJ, Fallat RW, Steiner tpm
Metabolism 1976 Jun;25(6):611-4. doi: 10.1016/0026-0495(76)90057-3. PMID: 178979

Therapy

Hartz J
Curr Atheroscler Rep 2024 Dec;26(12):673-681. Epub 2024 Sep 10 doi: 10.1007/s11883-024-01238-y. PMID: 39254830
Welty FK
Curr Opin Lipidol 2020 Apr;31(2):49-55. doi: 10.1097/MOL.0000000000000663. PMID: 32039990
Whayne TF
Curr Vasc Pharmacol 2017;15(4):374-379. doi: 10.2174/1570161115666170227102708. PMID: 28245773
Hooper AJ, Burnett JR
Curr Atheroscler Rep 2014 Jul;16(7):423. doi: 10.1007/s11883-014-0423-3. PMID: 24781598
Cullen P, Funke H, Schulte H, Assmann G
J Atheroscler Thromb 1997;4(2):51-8. doi: 10.5551/jat1994.4.51. PMID: 9638514

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
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
Glueck CJ, Tsang RC, Mellies MJ, Fallat RW, Steiner tpm
Metabolism 1976 Jun;25(6):611-4. doi: 10.1016/0026-0495(76)90057-3. PMID: 178979

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
Rimbert A, Vanhoye X, Coulibaly D, Marrec M, Pichelin M, Charrière S, Peretti N, Valéro R, Wargny M, Carrié A, Lindenbaum P, Deleuze JF, Genin E, Redon R, Rollat-Farnier PA, Goxe D, Degraef G, Marmontel O, Divry E, Bigot-Corbel E, Moulin P, Cariou B, Di Filippo M
Arterioscler Thromb Vasc Biol 2021 Jan;41(1):e63-e71. Epub 2020 Nov 19 doi: 10.1161/ATVBAHA.120.315491. PMID: 33207932
Sankatsing RR, Fouchier SW, de Haan S, Hutten BA, de Groot E, Kastelein JJ, Stroes ES
Arterioscler Thromb Vasc Biol 2005 Sep;25(9):1979-84. Epub 2005 Jul 7 doi: 10.1161/01.ATV.0000176191.64314.07. PMID: 16002743
Schonfeld G
Annu Rev Nutr 1995;15:23-34. doi: 10.1146/annurev.nu.15.070195.000323. PMID: 8527219
Linton MF, Pierotti V, Young SG
Proc Natl Acad Sci U S A 1992 Dec 1;89(23):11431-5. doi: 10.1073/pnas.89.23.11431. PMID: 1454832Free PMC Article

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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