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Review

CETP-Related Hyperalphalipoproteinemia

John R Burnett  1 , Amanda J Hooper  2 , Robert A Hegele  3
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
.
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Review

CETP-Related Hyperalphalipoproteinemia

John R Burnett et al.
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Excerpt

Clinical characteristics: CETP-related hyperalphalipoproteinemia (HALP), the most common form of primary HALP, is characterized by marked elevations in plasma high-density lipoprotein cholesterol (HDL-C) together with large cholesterol ester-rich high-density lipoprotein (HDL) particles in the absence of secondary causes of HALP, including high alcohol intake, primary biliary cirrhosis, multiple lipomatosis, prolonged intensive physical exercise, and certain medications. CETP-related HALP is generally asymptomatic with no obvious clinical signs or symptoms. The possible diagnosis is generally identified as an incidental finding of HALP as part of a routine lipid profile on laboratory testing. However, people with CETP-related HALP may develop coronary artery disease.

Diagnosis/testing: The molecular diagnosis of biallelic CETP-related HALP or heterozygous CETP-related HALP is established in a proband with suggestive laboratory findings and either biallelic or a heterozygous pathogenic variant(s), respectively, in CETP identified by molecular genetic testing.

Management: Treatment of manifestations: Standard treatment, including dietary and pharmacologic therapies for coronary artery disease.

Surveillance: Cardiovascular risk assessment, including noninvasive assessment of atherosclerotic plaque burden, as clinically indicated.

Genetic counseling: Biallelic CETP-related HALP caused by homozygous or compound heterozygous CETP pathogenic variants is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a CETP pathogenic variant, each sib of an individual with biallelic CETP-related HALP has at conception a 25% chance of having biallelic CETP-related HALP, a 50% chance of having heterozygous CETP-related HALP, and a 25% chance of inheriting neither of the familial CETP pathogenic variants. Individuals who are heterozygous for a CETP pathogenic variant have heterozygous CETP-related HALP and are predicted to have moderately elevated HDL-C.

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References

    1. Brown ML, Inazu A, Hesler CB, Agellon LB, Mann C, Whitlock ME, Marcel YL, Milne RW, Koizumi J, Mabuchi H, et al. Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins. Nature. 1989;342:448-51. - PubMed
    1. Giammanco A, Noto D, Barbagallo CM, Nardi E, Caldarella R, Ciaccio M, Averna MR, Cefalù AB. Hyperalphalipoproteinemia and beyond: the role of HDL in cardiovascular diseases. Life (Basel). 2021;11:581. - PMC - PubMed
    1. Hirano K, Yamashita S, Funahashi T, Sakai N, Menju M, Ishigami M, Hiraoka H, Kameda-Takemura K, Tokunaga K, Hoshino T, Kumasaka K, Kawano K, Matsuzawa Y. Frequency of intron 14 splicing defect of cholesteryl ester transfer protein gene in the Japanese general population--relation between the mutation and hyperalphalipoproteinemia. Atherosclerosis. 1993;100:85-90. - PubMed
    1. Hirano K, Yamashita S, Nakajima N, Arai T, Maruyama T, Yoshida Y, Ishigami M, Sakai N, Kameda-Takemura K, Matsuzawa Y. Genetic cholesteryl ester transfer protein deficiency is extremely frequent in the Omagari area of Japan. Marked hyperalphalipoproteinemia caused by CETP gene mutation is not associated with longevity. Arterioscler Thromb Vasc Biol. 1997;17:1053-9. - PubMed
    1. Inazu A, Jiang XC, Haraki T, Yagi K, Kamon N, Koizumi J, Mabuchi H, Takeda R, Takata K, Moriyama Y, Doi M, Tall A. Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol. J Clin Invest. 1994;94:1872-82. - PMC - PubMed

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