U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Familial type 5 hyperlipoproteinemia

MedGen UID:
5693
Concept ID:
C0020481
Disease or Syndrome
Synonyms: Hyperchylomicronemia late onset; Hyperchylomicronemia with hyperprebetalipoproteinemia, familial; Hyperlipemia combined fat and carbohydrate-induced; Hyperlipemia mixed; Hyperlipidemia type V; Hyperlipoproteinemia type 5; Hyperlipoproteinemia Type V
SNOMED CT: Familial type V hyperlipoproteinemia (34349009); Fredrickson type V hyperlipoproteinemia (34349009); Familial type 5 hyperlipoproteinemia (34349009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): APOA5 (11q23.3)
 
Monarch Initiative: MONDO:0007762
OMIM®: 144650
Orphanet: ORPHA530849

Definition

A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I. [from MONDO]

Clinical features

From HPO
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Decreased HDL cholesterol concentration
MedGen UID:
57731
Concept ID:
C0151691
Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Decreased LDL cholesterol concentration
MedGen UID:
776554
Concept ID:
C0853085
Finding
An decreased concentration of low-density lipoprotein cholesterol in the blood.
Increased circulating chylomicron concentration
MedGen UID:
853340
Concept ID:
C1535978
Finding
Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.
Increased VLDL cholesterol concentration
MedGen UID:
867364
Concept ID:
C4021729
Finding
An increase in the amount of very-low-density lipoprotein cholesterol in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Familial type 5 hyperlipoproteinemia in Orphanet.

Professional guidelines

PubMed

Gotoda T, Shirai K, Ohta T, Kobayashi J, Yokoyama S, Oikawa S, Bujo H, Ishibashi S, Arai H, Yamashita S, Harada-Shiba M, Eto M, Hayashi T, Sone H, Suzuki H, Yamada N; Research Committee for Primary Hyperlipidemia, Research on Measures against Intractable Diseases by the Ministry of Health, Labour and Welfare in Japan
J Atheroscler Thromb 2012;19(1):1-12. Epub 2011 Dec 1 doi: 10.5551/jat.10702. PMID: 22129523
Gotto AM Jr, Jones PH, Scott LW
Dis Mon 1986 May;32(5):245-311. doi: 10.1016/s0011-5029(86)80011-6. PMID: 3519132
Schaefer EJ, Levy RI
N Engl J Med 1985 May 16;312(20):1300-10. doi: 10.1056/NEJM198505163122007. PMID: 3887163

Recent clinical studies

Etiology

Okajima F, Kurihara O, Takano M
Aging (Albany NY) 2019 May 14;11(9):2549-2550. doi: 10.18632/aging.101969. PMID: 31102505Free PMC Article
Müller-Wieland D, Leiter LA, Cariou B, Letierce A, Colhoun HM, Del Prato S, Henry RR, Tinahones FJ, Aurand L, Maroni J, Ray KK, Bujas-Bobanovic M
Cardiovasc Diabetol 2017 May 25;16(1):70. doi: 10.1186/s12933-017-0552-4. PMID: 28545518Free PMC Article
Russi G
Transfus Apher Sci 2015 Dec;53(3):283-7. Epub 2015 Nov 25 doi: 10.1016/j.transci.2015.11.008. PMID: 26626968
Brahm AJ, Hegele RA
Nat Rev Endocrinol 2015 Jun;11(6):352-62. Epub 2015 Mar 3 doi: 10.1038/nrendo.2015.26. PMID: 25732519
Seidehamel RJ
Cardiology 1989;76 Suppl 1:23-8; discussion 29-32. doi: 10.1159/000174544. PMID: 2653622

Diagnosis

Dildar S, Shamsi TS
BMC Endocr Disord 2020 Feb 11;20(1):22. doi: 10.1186/s12902-020-0502-0. PMID: 32046690Free PMC Article
Müller-Wieland D, Leiter LA, Cariou B, Letierce A, Colhoun HM, Del Prato S, Henry RR, Tinahones FJ, Aurand L, Maroni J, Ray KK, Bujas-Bobanovic M
Cardiovasc Diabetol 2017 May 25;16(1):70. doi: 10.1186/s12933-017-0552-4. PMID: 28545518Free PMC Article
Brahm AJ, Hegele RA
Nat Rev Endocrinol 2015 Jun;11(6):352-62. Epub 2015 Mar 3 doi: 10.1038/nrendo.2015.26. PMID: 25732519
Gotoda T, Shirai K, Ohta T, Kobayashi J, Yokoyama S, Oikawa S, Bujo H, Ishibashi S, Arai H, Yamashita S, Harada-Shiba M, Eto M, Hayashi T, Sone H, Suzuki H, Yamada N; Research Committee for Primary Hyperlipidemia, Research on Measures against Intractable Diseases by the Ministry of Health, Labour and Welfare in Japan
J Atheroscler Thromb 2012;19(1):1-12. Epub 2011 Dec 1 doi: 10.5551/jat.10702. PMID: 22129523
Gotto AM Jr, Jones PH, Scott LW
Dis Mon 1986 May;32(5):245-311. doi: 10.1016/s0011-5029(86)80011-6. PMID: 3519132

Therapy

Müller-Wieland D, Leiter LA, Cariou B, Letierce A, Colhoun HM, Del Prato S, Henry RR, Tinahones FJ, Aurand L, Maroni J, Ray KK, Bujas-Bobanovic M
Cardiovasc Diabetol 2017 May 25;16(1):70. doi: 10.1186/s12933-017-0552-4. PMID: 28545518Free PMC Article
Brahm AJ, Hegele RA
Nat Rev Endocrinol 2015 Jun;11(6):352-62. Epub 2015 Mar 3 doi: 10.1038/nrendo.2015.26. PMID: 25732519
Seidehamel RJ
Cardiology 1989;76 Suppl 1:23-8; discussion 29-32. doi: 10.1159/000174544. PMID: 2653622
Gotto AM Jr, Jones PH, Scott LW
Dis Mon 1986 May;32(5):245-311. doi: 10.1016/s0011-5029(86)80011-6. PMID: 3519132
Schaefer EJ, Levy RI
N Engl J Med 1985 May 16;312(20):1300-10. doi: 10.1056/NEJM198505163122007. PMID: 3887163

Prognosis

Dildar S, Shamsi TS
BMC Endocr Disord 2020 Feb 11;20(1):22. doi: 10.1186/s12902-020-0502-0. PMID: 32046690Free PMC Article
Kurihara O, Okajima F, Takano M, Kato K, Munakata R, Murakami D, Miyauchi Y, Emoto N, Sugihara H, Seino Y, Shimizu W
Arterioscler Thromb Vasc Biol 2018 Aug;38(8):1940-1947. doi: 10.1161/ATVBAHA.118.311245. PMID: 29930008
Lloret Linares C, Pelletier AL, Czernichow S, Vergnaud AC, Bonnefont-Rousselot D, Levy P, Ruszniewski P, Bruckert E
Pancreas 2008 Jul;37(1):13-2. doi: 10.1097/MPA.0b013e31816074a1. PMID: 18580438
Campos CT, Matts JP, Santilli SM, Fitch LL, Long JM, Speech JC, Buchwald H
Am J Surg 1988 Jan;155(1):138-46. doi: 10.1016/s0002-9610(88)80271-x. PMID: 3341527
Hopkins PN, Williams RR
Am J Clin Nutr 1981 Nov;34(11):2560-90. doi: 10.1093/ajcn/34.11.2560. PMID: 7030050

Clinical prediction guides

Fang Y, Mei W, Wang C, Ren X, Hu J, Su F, Cao L, Tavengana G, Jiang M, Wu H, Wen Y
BMC Endocr Disord 2024 Jan 2;24(1):2. doi: 10.1186/s12902-023-01528-7. PMID: 38166872Free PMC Article
Kurihara O, Okajima F, Takano M, Kato K, Munakata R, Murakami D, Miyauchi Y, Emoto N, Sugihara H, Seino Y, Shimizu W
Arterioscler Thromb Vasc Biol 2018 Aug;38(8):1940-1947. doi: 10.1161/ATVBAHA.118.311245. PMID: 29930008
Aviram M, Carter A, Brook JG, Tatarsky I
Scand J Haematol 1985 May;34(5):436-41. doi: 10.1111/j.1600-0609.1985.tb00774.x. PMID: 4012223
Janus ED, Grant S, Lintott CJ, Wardell MR
Atherosclerosis 1985 Nov;57(2-3):249-66. doi: 10.1016/0021-9150(85)90038-3. PMID: 3866582
Hopkins PN, Williams RR
Am J Clin Nutr 1981 Nov;34(11):2560-90. doi: 10.1093/ajcn/34.11.2560. PMID: 7030050

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...