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Hypolipidemia

MedGen UID:
575275
Concept ID:
C0342892
Finding; Pathologic Function
SNOMED CT: Hypolipidemia (238090007)
 
HPO: HP:0045014

Definition

abnormally decreased amount of fat in the blood. [from CRISP]

Conditions with this feature

Congenital bile acid synthesis defect 6
MedGen UID:
934591
Concept ID:
C4310624
Disease or Syndrome
Congenital bile acid synthesis defect-6 (CBAS6) is characterized by persistent hypertransaminasemia and accumulation of C27 bile acids (summary by Alonso-Pena et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see CBAS1 (607765).

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
Takahashi M, Okazaki H, Ohashi K, Ogura M, Ishibashi S, Okazaki S, Hirayama S, Hori M, Matsuki K, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Oct 1;28(10):1009-1019. Epub 2021 May 16 doi: 10.5551/jat.RV17056. PMID: 33994405Free PMC Article

Recent clinical studies

Etiology

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
White D
Nurs Clin North Am 2021 Mar;56(1):153-156. doi: 10.1016/j.cnur.2020.12.001. PMID: 33549282
Raal FJ, Rosenson RS, Reeskamp LF, Hovingh GK, Kastelein JJP, Rubba P, Ali S, Banerjee P, Chan KC, Gipe DA, Khilla N, Pordy R, Weinreich DM, Yancopoulos GD, Zhang Y, Gaudet D; ELIPSE HoFH Investigators
N Engl J Med 2020 Aug 20;383(8):711-720. doi: 10.1056/NEJMoa2004215. PMID: 32813947
Arca M, D'Erasmo L, Minicocci I
Curr Opin Lipidol 2020 Apr;31(2):41-48. doi: 10.1097/MOL.0000000000000668. PMID: 32022755
Welty FK
Curr Opin Lipidol 2014 Jun;25(3):161-8. doi: 10.1097/MOL.0000000000000072. PMID: 24751931Free PMC Article

Diagnosis

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
Takahashi M, Okazaki H, Ohashi K, Ogura M, Ishibashi S, Okazaki S, Hirayama S, Hori M, Matsuki K, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Oct 1;28(10):1009-1019. Epub 2021 May 16 doi: 10.5551/jat.RV17056. PMID: 33994405Free PMC Article
Arca M, D'Erasmo L, Minicocci I
Curr Opin Lipidol 2020 Apr;31(2):41-48. doi: 10.1097/MOL.0000000000000668. PMID: 32022755
Welty FK
Curr Opin Lipidol 2014 Jun;25(3):161-8. doi: 10.1097/MOL.0000000000000072. PMID: 24751931Free PMC Article

Therapy

Ahmed T, Wang CK
Molecules 2021 Aug 19;26(16) doi: 10.3390/molecules26165028. PMID: 34443625Free PMC Article
White D
Nurs Clin North Am 2021 Mar;56(1):153-156. doi: 10.1016/j.cnur.2020.12.001. PMID: 33549282
Raal FJ, Rosenson RS, Reeskamp LF, Hovingh GK, Kastelein JJP, Rubba P, Ali S, Banerjee P, Chan KC, Gipe DA, Khilla N, Pordy R, Weinreich DM, Yancopoulos GD, Zhang Y, Gaudet D; ELIPSE HoFH Investigators
N Engl J Med 2020 Aug 20;383(8):711-720. doi: 10.1056/NEJMoa2004215. PMID: 32813947
Arca M, D'Erasmo L, Minicocci I
Curr Opin Lipidol 2020 Apr;31(2):41-48. doi: 10.1097/MOL.0000000000000668. PMID: 32022755
Hooper AJ, Burnett JR
Curr Atheroscler Rep 2014 Jul;16(7):423. doi: 10.1007/s11883-014-0423-3. PMID: 24781598

Prognosis

Takahashi M, Okazaki H, Ohashi K, Ogura M, Ishibashi S, Okazaki S, Hirayama S, Hori M, Matsuki K, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Oct 1;28(10):1009-1019. Epub 2021 May 16 doi: 10.5551/jat.RV17056. PMID: 33994405Free PMC Article
Bea AM, Franco-Marín E, Marco-Benedí V, Jarauta E, Gracia-Rubio I, Cenarro A, Civeira F, Lamiquiz-Moneo I
Sci Rep 2021 Mar 26;11(1):7002. doi: 10.1038/s41598-021-86384-y. PMID: 33772079Free PMC Article
Privitera G, Spadaro L, Marchisello S, Fede G, Purrello F
Dig Dis Sci 2018 Jan;63(1):16-26. Epub 2017 Nov 25 doi: 10.1007/s10620-017-4862-x. PMID: 29177578
Nascimbeni F, Dalla Salda A, Carubbi F
Blood Cells Mol Dis 2018 Feb;68:74-80. Epub 2016 Oct 20 doi: 10.1016/j.bcmd.2016.10.012. PMID: 27839982
Ganavi BS, Patil S, Rao RS
J Contemp Dent Pract 2014 May 1;15(3):294-9. doi: 10.5005/jp-journals-10024-1531. PMID: 25307809

Clinical prediction guides

Xu K, Zheng P, Zhao S, Wang M, Tu D, Wei Q, Feng J, Wang H, Chen J, Xie P
Transl Psychiatry 2022 Dec 30;12(1):527. doi: 10.1038/s41398-022-02287-0. PMID: 36585419Free PMC Article
Vaura F, Kim H, Udler MS; FinnGen*, Salomaa V, Lahti L, Niiranen T
Circ Genom Precis Med 2022 Aug;15(4):e003583. Epub 2022 May 23 doi: 10.1161/CIRCGEN.121.003583. PMID: 35604428Free PMC Article
Privitera G, Spadaro L, Marchisello S, Fede G, Purrello F
Dig Dis Sci 2018 Jan;63(1):16-26. Epub 2017 Nov 25 doi: 10.1007/s10620-017-4862-x. PMID: 29177578
Minicocci I, Montali A, Robciuc MR, Quagliarini F, Censi V, Labbadia G, Gabiati C, Pigna G, Sepe ML, Pannozzo F, Lütjohann D, Fazio S, Jauhiainen M, Ehnholm C, Arca M
J Clin Endocrinol Metab 2012 Jul;97(7):E1266-75. Epub 2012 Jun 1 doi: 10.1210/jc.2012-1298. PMID: 22659251Free PMC Article
Pyper SR, Viswakarma N, Yu S, Reddy JK
Nucl Recept Signal 2010 Apr 16;8:e002. doi: 10.1621/nrs.08002. PMID: 20414453Free PMC Article

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