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).
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

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
Dietary treatment of type V hyperlipoproteinemia fails to normalize low levels of high-density lipoprotein cholesterol.
Falko JM, Witztum JL, Schonfeld G, Bateman J
Ann Intern Med 1979 Nov;91(5):750-1. doi: 10.7326/0003-4819-91-5-750. PMID: 227301

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
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
L-Carnitine/Simvastatin Reduces Lipoprotein (a) Levels Compared with Simvastatin Monotherapy: A Randomized Double-Blind Placebo-Controlled Study.
Florentin M, Elisaf MS, Rizos CV, Nikolaou V, Bilianou E, Pitsavos C, Liberopoulos EN
Lipids 2017 Jan;52(1):1-9. Epub 2016 Dec 2 doi: 10.1007/s11745-016-4216-z. PMID: 27914033
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
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

Diagnosis

Lipemia retinalis in an infant.
Samanta R, Katoch D
Indian J Ophthalmol 2019 Jun;67(6):953. doi: 10.4103/ijo.IJO_225_19. PMID: 31124529Free 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
Eruptive xanthoma: Warning sign of systemic disease.
Roga G, Jithendriya M
Cleve Clin J Med 2016 Oct;83(10):715-716. doi: 10.3949/ccjm.83a.15126. PMID: 27726830
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

Therapy

L-Carnitine/Simvastatin Reduces Lipoprotein (a) Levels Compared with Simvastatin Monotherapy: A Randomized Double-Blind Placebo-Controlled Study.
Florentin M, Elisaf MS, Rizos CV, Nikolaou V, Bilianou E, Pitsavos C, Liberopoulos EN
Lipids 2017 Jan;52(1):1-9. Epub 2016 Dec 2 doi: 10.1007/s11745-016-4216-z. PMID: 27914033
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
Effectiveness and safety of alternate-day simvastatin and fenofibrate on mixed hyperlipidemia.
Kayikçioğlu M, Ozerkan F, Soydan I
Am J Cardiol 1999 Apr 1;83(7):1135-7, A9. doi: 10.1016/s0002-9149(99)00030-2. PMID: 10190536
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
Type V hyperlipoproteinemia in systemic lupus erythematosus.
Nakane T, Asayama K, Higashida K, Hayashibe H, Uchida N, Dobashi K, Kodera K, Tandou T, Furuich Y, Nakazawa S
Pediatr Int 2003 Jun;45(3):352-4. doi: 10.1046/j.1442-200x.2003.01734.x. PMID: 12828597
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
Serum profile of non-esterified fatty acids (NEFA) in patients with hyperlipoproteinemia under xantinol--nicotinate (XN) medication.
Haacke H, Parwaresch MR, Mäder C
Atherosclerosis 1980 Sep;37(1):77-85. doi: 10.1016/0021-9150(80)90095-7. PMID: 7426090

Clinical prediction guides

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
L-Carnitine/Simvastatin Reduces Lipoprotein (a) Levels Compared with Simvastatin Monotherapy: A Randomized Double-Blind Placebo-Controlled Study.
Florentin M, Elisaf MS, Rizos CV, Nikolaou V, Bilianou E, Pitsavos C, Liberopoulos EN
Lipids 2017 Jan;52(1):1-9. Epub 2016 Dec 2 doi: 10.1007/s11745-016-4216-z. PMID: 27914033
Lipemia retinalis associated with branch retinal vein occlusion.
Nagra PK, Ho AC, Dugan JD Jr
Am J Ophthalmol 2003 Apr;135(4):539-42. doi: 10.1016/s0002-9394(02)02076-7. PMID: 12654375
Prevention of recurrent acute pancreatitis in patients with severe hypertriglyceridemia: value of regular plasmapheresis.
Piolot A, Nadler F, Cavallero E, Coquard JL, Jacotot B
Pancreas 1996 Jul;13(1):96-9. doi: 10.1097/00006676-199607000-00013. PMID: 8783340
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

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.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...