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Familial apolipoprotein C-II deficiency

MedGen UID:
328375
•Concept ID:
C1720779
•
Disease or Syndrome
Synonyms: APOC2 DEFICIENCY; Apolipoprotein C-II Deficiency; Apolipoprotein C2 deficiency; C-II ANAPOLIPOPROTEINEMIA; HYPERLIPOPROTEINEMIA, TYPE IB
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): APOC2 (19q13.32)
 
Monarch Initiative: MONDO:0008810
OMIM®: 207750
Orphanet: ORPHA309020

Definition

Clinically and biochemically, apoC-II deficiency closely simulates lipoprotein lipase deficiency, or hyperlipoproteinemia type I (238600), and is therefore referred to as hyperlipoproteinemia type IB. [from OMIM]

Clinical features

From HPO
Hepatomegaly
MedGen UID:
42428
•Concept ID:
C0019209
•
Finding
Abnormally increased size of the liver.
See: Feature record | Search on this feature
Pancreatitis
MedGen UID:
14586
•Concept ID:
C0030305
•
Disease or Syndrome
The presence of inflammation in the pancreas.
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Hypercholesterolemia
MedGen UID:
5687
•Concept ID:
C0020443
•
Disease or Syndrome
An increased concentration of cholesterol in the blood.
See: Feature record | Search on this feature
Hypertriglyceridemia
MedGen UID:
167238
•Concept ID:
C0813230
•
Finding
An abnormal increase in the level of triglycerides 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
Decreased circulating apolipoprotein C-II concentration
MedGen UID:
395336
•Concept ID:
C1859747
•
Finding
Reduced concentration of apolipoprotein C-II in the blood circulation.
See: Feature record | Search on this feature
Eruptive xanthomas
MedGen UID:
66366
•Concept ID:
C0221252
•
Disease or Syndrome
Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.
See: Feature record | Search on this feature
Lipemia retinalis
MedGen UID:
137918
•Concept ID:
C0339477
•
Disease or Syndrome
A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.
See: Feature record | Search on this feature
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Term Hierarchy

Professional guidelines

PubMed

Treatment of chylomicronemia.
Navarro Hermoso A, Valdivielso P
Clin Investig Arterioscler 2021 May;33 Suppl 2:75-79. doi: 10.1016/j.arteri.2021.01.004. PMID: 34006359
Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".
Moulin P, Dufour R, Averna M, Arca M, Cefalù AB, Noto D, D'Erasmo L, Di Costanzo A, Marçais C, Alvarez-Sala Walther LA, Banach M, Borén J, Cramb R, Gouni-Berthold I, Hughes E, Johnson C, Pintó X, Reiner Ž, van Lennep JR, Soran H, Stefanutti C, Stroes E, Bruckert E
Atherosclerosis 2018 Aug;275:265-272. Epub 2018 Jun 18 doi: 10.1016/j.atherosclerosis.2018.06.814. PMID: 29980054
Editorial commentary: Dietary management of familial chylomicronemia syndrome.
Williams L, Wilson DP
J Clin Lipidol 2016 May-Jun;10(3):462-5. Epub 2016 Jan 7 doi: 10.1016/j.jacl.2015.12.023. PMID: 27206931

Recent clinical studies

Clinical prediction guides

Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency.
Yamamura T, Sudo H, Ishikawa K, Yamamoto A
Atherosclerosis 1979 Sep;34(1):53-65. doi: 10.1016/0021-9150(79)90106-0. PMID: 227429

Supplemental Content

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    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

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