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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]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHypobetalipoproteinemia

Abnormal circulating metabolite concentration
- Abnormal circulating organic compound concentration
  - Abnormal circulating lipid concentration
    - Abnormal circulating cholesterol concentration
      - Abnormality of lipoprotein cholesterol concentration
        Hypolipoproteinemia
        Hypobetalipoproteinemia
        Abetalipoproteinaemia
        Apolipoprotein B deficiency
        Chylomicron retention disease

Follow this link to review classifications for Hypobetalipoproteinemia in Orphanet.

Professional guidelines

PubMed

Low cholesterol states: clinical implications and management.

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

Guidance for the diagnosis and treatment of hypolipidemia disorders.

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

AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.

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: 35842345 Free PMC Article

See all (6)

Recent clinical studies

Etiology

Low cholesterol states: clinical implications and management.

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

AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.

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: 35842345 Free PMC Article

Hypotriglyceridemias/hypolipidemias.

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

Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease.

Welty FK
Curr Opin Lipidol 2020 Apr;31(2):49-55. doi: 10.1097/MOL.0000000000000663. PMID: 32039990

Hypobetalipoproteinemia and abetalipoproteinemia.

Welty FK
Curr Opin Lipidol 2014 Jun;25(3):161-8. doi: 10.1097/MOL.0000000000000072. PMID: 24751931 Free PMC Article

See all (89)

Diagnosis

Guidance for the diagnosis and treatment of hypolipidemia disorders.

AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.

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: 35842345 Free PMC Article

Hypotriglyceridemias/hypolipidemias.

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

Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease.

Welty FK
Curr Opin Lipidol 2020 Apr;31(2):49-55. doi: 10.1097/MOL.0000000000000663. PMID: 32039990

Hypobetalipoproteinemia and abetalipoproteinemia.

Welty FK
Curr Opin Lipidol 2014 Jun;25(3):161-8. doi: 10.1097/MOL.0000000000000072. PMID: 24751931 Free PMC Article

See all (80)

Therapy

Rare Diseases Related with Lipoprotein Metabolism.

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

Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease.

Welty FK
Curr Opin Lipidol 2020 Apr;31(2):49-55. doi: 10.1097/MOL.0000000000000663. PMID: 32039990

Low-Density Lipoprotein Cholesterol (LDL-C): How Low?

Whayne TF
Curr Vasc Pharmacol 2017;15(4):374-379. doi: 10.2174/1570161115666170227102708. PMID: 28245773

Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.

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

Update on primary hypobetalipoproteinemia.

Hooper AJ, Burnett JR
Curr Atheroscler Rep 2014 Jul;16(7):423. doi: 10.1007/s11883-014-0423-3. PMID: 24781598

See all (27)

Prognosis

Low cholesterol states: clinical implications and management.

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

AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.

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: 35842345 Free PMC Article

The biochemical and genetic diagnosis of lipid disorders.

Schaefer EJ, Geller AS, Endress G
Curr Opin Lipidol 2019 Apr;30(2):56-62. doi: 10.1097/MOL.0000000000000590. PMID: 30720493

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

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

Neuroacanthocytosis syndromes.

Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213 Free PMC Article

See all (43)

Clinical prediction guides

Variants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile.

Rimbert A, Yeung MW, Dalila N, Thio CHL, Yu H, Loaiza N, Oldoni F, van der Graaf A, Wang S, Said MA, Blauw LL, Girardeau A, Bray L, Caillaud A, Bloks VW, Marrec M, Moulin P, Rensen PCN, van de Sluis B, Snieder H, Di Filippo M, van der Harst P, Tybjaerg-Hansen A, Zimmerman P, Cariou B, Kuivenhoven JA
Arterioscler Thromb Vasc Biol 2022 Oct;42(10):1262-1271. Epub 2022 Sep 1 doi: 10.1161/ATVBAHA.122.317514. PMID: 36047410

AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.

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: 35842345 Free PMC Article

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.

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

Altered mRNA splicing in lipoprotein disorders.

Calandra S, Tarugi P, Bertolini S
Curr Opin Lipidol 2011 Apr;22(2):93-9. doi: 10.1097/MOL.0b013e3283426ebc. PMID: 21157333

The hypobetalipoproteinemias.

Schonfeld G
Annu Rev Nutr 1995;15:23-34. doi: 10.1146/annurev.nu.15.070195.000323. PMID: 8527219

See all (70)

Recent systematic reviews

Familial heterozygous hypobetalipoproteinemia and breast cancer risk: A systematic review and suggestions for further research.

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

Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature.

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

See all (2)

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Hypobetalipoproteinemia

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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