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Elevated circulating apolipoprotein A-II concentration

MedGen UID:
1638249
Concept ID:
C4703546
Finding
Synonyms: Elevated Apo-AII level; Elevated apoA-II level; Elevated APOAII level; Elevated apolipoprotein A-II level
 
HPO: HP:0031800

Definition

An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating apolipoprotein A-II concentration

Conditions with this feature

Hyperlipidemia, familial combined, LPL related
MedGen UID:
6965
Concept ID:
C0020474
Disease or Syndrome
Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; 107730). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by Bello-Chavolla et al., 2018). Goldstein et al. (1973) gave the designation 'familial combined hyperlipidemia' to the most common genetic form of hyperlipidemia identified in a study of survivors of myocardial infarction. Affected persons characteristically showed elevation of both cholesterol and triglycerides in the blood. The combined disorder was shown to be distinct from familial hypercholesterolemia (143890) and from familial hypertriglyceridemia (145750) for the following reasons: (1) lipid distributions in relatives were unique; (2) unlike familial hypercholesterolemia, children of affected persons did not express hypercholesterolemia; and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. This disorder leads to elevated levels of VLDL, LDL, or both in plasma. From time to time the pattern can change in a given person. Unlike familial hypercholesterolemia, hyperlipidemia appears in only 10 to 20% of patients in childhood, usually in the form of hypertriglyceridemia. Xanthomas are rare. Increased production of VLDL may be a common underlying metabolic characteristic in this disorder, which may be heterogeneous. The disorder may be 5 times as frequent as familial hypercholesterolemia, occurring in 1% of the U.S. population. Genetic Heterogeneity of Susceptibility to Familial Combined Hyperlipidemia Also see FCHL1 (602491), associated with variation in the USF1 gene (191523) on chromosome 1q23, and FCHL2 (604499), mapped to chromosome 11.
Tangier disease
MedGen UID:
52644
Concept ID:
C0039292
Disease or Syndrome
Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, hepatosplenomegaly, and peripheral neuropathy, which may be either relapsing-remitting or chronic progressive in nature. Rarer complications may include corneal opacities that typically do not affect vision, premature atherosclerotic coronary artery disease occurring in the sixth and seventh decades of life (not usually before age 40 years), and mild hematologic manifestations, such as mild thrombocytopenia, reticulocytosis, stomatocytosis, or hemolytic anemia. The clinical expression of Tangier disease is variable, with some affected individuals only showing biochemical perturbations.

Recent clinical studies

Etiology

Buring JE, O'Connor GT, Goldhaber SZ, Rosner B, Herbert PN, Blum CB, Breslow JL, Hennekens CH
Circulation 1992 Jan;85(1):22-9. doi: 10.1161/01.cir.85.1.22. PMID: 1728453

Diagnosis

Ottosson UB
Acta Obstet Gynecol Scand Suppl 1984;127:1-37. doi: 10.3109/00016348409157016. PMID: 6596830

Therapy

Ottosson UB
Acta Obstet Gynecol Scand Suppl 1984;127:1-37. doi: 10.3109/00016348409157016. PMID: 6596830

Prognosis

Buring JE, O'Connor GT, Goldhaber SZ, Rosner B, Herbert PN, Blum CB, Breslow JL, Hennekens CH
Circulation 1992 Jan;85(1):22-9. doi: 10.1161/01.cir.85.1.22. PMID: 1728453

Clinical prediction guides

Lamarche B, Uffelman KD, Steiner G, Barrett PH, Lewis GF
J Lipid Res 1998 Jun;39(6):1162-72. PMID: 9643347
Buring JE, O'Connor GT, Goldhaber SZ, Rosner B, Herbert PN, Blum CB, Breslow JL, Hennekens CH
Circulation 1992 Jan;85(1):22-9. doi: 10.1161/01.cir.85.1.22. PMID: 1728453
Ottosson UB
Acta Obstet Gynecol Scand Suppl 1984;127:1-37. doi: 10.3109/00016348409157016. PMID: 6596830

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