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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).
Autosomal recessive inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
Decreased HDL cholesterol concentration
MedGen UID:
57731
•Concept ID:
C0151691
•
Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
See: Feature record | Search on this feature
Decreased LDL cholesterol concentration
MedGen UID:
776554
•Concept ID:
C0853085
•
Finding
An decreased concentration of low-density lipoprotein cholesterol in the blood.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

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

Diagnosis and management of type I and type V hyperlipoproteinemia.
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
The diagnosis and management of hyperlipidemia.
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
Pathogenesis and management of lipoprotein disorders.
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

Acute coronary syndrome and postprandial delayed hyperchylomicronemia.
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
Design and rationale of the ODYSSEY DM-DYSLIPIDEMIA trial: lipid-lowering efficacy and safety of alirocumab in individuals with type 2 diabetes and mixed dyslipidaemia at high cardiovascular risk.
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
Severe dyslipidemia in pregnancy: The role of therapeutic apheresis.
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
Chylomicronaemia--current diagnosis and future therapies.
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
Fenofibrate in type IV and type V hyperlipoproteinemia.
Seidehamel RJ
Cardiology 1989;76 Suppl 1:23-8; discussion 29-32. doi: 10.1159/000174544. PMID: 2653622

Diagnosis

Case report of one month and 15 days old baby with type V hyperlipoproteinemia (HLP).
Dildar S, Shamsi TS
BMC Endocr Disord 2020 Feb 11;20(1):22. doi: 10.1186/s12902-020-0502-0. PMID: 32046690Free PMC Article
Design and rationale of the ODYSSEY DM-DYSLIPIDEMIA trial: lipid-lowering efficacy and safety of alirocumab in individuals with type 2 diabetes and mixed dyslipidaemia at high cardiovascular risk.
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
Chylomicronaemia--current diagnosis and future therapies.
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
Diagnosis and management of type I and type V hyperlipoproteinemia.
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
The diagnosis and management of hyperlipidemia.
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

Design and rationale of the ODYSSEY DM-DYSLIPIDEMIA trial: lipid-lowering efficacy and safety of alirocumab in individuals with type 2 diabetes and mixed dyslipidaemia at high cardiovascular risk.
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
Chylomicronaemia--current diagnosis and future therapies.
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
Fenofibrate in type IV and type V hyperlipoproteinemia.
Seidehamel RJ
Cardiology 1989;76 Suppl 1:23-8; discussion 29-32. doi: 10.1159/000174544. PMID: 2653622
The diagnosis and management of hyperlipidemia.
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
Pathogenesis and management of lipoprotein disorders.
Schaefer EJ, Levy RI
N Engl J Med 1985 May 16;312(20):1300-10. doi: 10.1056/NEJM198505163122007. PMID: 3887163

Prognosis

Case report of one month and 15 days old baby with type V hyperlipoproteinemia (HLP).
Dildar S, Shamsi TS
BMC Endocr Disord 2020 Feb 11;20(1):22. doi: 10.1186/s12902-020-0502-0. PMID: 32046690Free PMC Article
Postprandial Hyperchylomicronemia and Thin-Cap Fibroatheroma in Nonculprit Lesions.
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
Acute pancreatitis in a cohort of 129 patients referred for severe hypertriglyceridemia.
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
Predictors of total and low-density lipoprotein cholesterol change after partial ileal bypass.
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
A simplified approach to lipoprotein kinetics and factors affecting serum cholesterol and triglyceride concentrations.
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

Dyslipidemia and hyperuricemia: a cross-sectional study of residents in Wuhu, China.
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
Postprandial Hyperchylomicronemia and Thin-Cap Fibroatheroma in Nonculprit Lesions.
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
Chylomicrons from patients with type V hyperlipoproteinemia inhibit platelet function.
Aviram M, Furman B, Brook JG
Atherosclerosis 1985 Aug;56(2):157-67. doi: 10.1016/0021-9150(85)90016-4. PMID: 4074453
Apolipoprotein E phenotypes in hyperlipidaemic patients and their implications for treatment.
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
A simplified approach to lipoprotein kinetics and factors affecting serum cholesterol and triglyceride concentrations.
Hopkins PN, Williams RR
Am J Clin Nutr 1981 Nov;34(11):2560-90. doi: 10.1093/ajcn/34.11.2560. PMID: 7030050

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