Which specialized lab tests may be included in the workup of low HDL cholesterol (hypoalphalipoproteinemia)?

Updated: May 21, 2021
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
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Evaluation of HDL subfractions

Measurement of the LCAT enzymatic activity

Apo A-I, apo A-II, and HDL subfractions

Genetic studies, including chromosomal studies

  • In a 1986 report, Ordovas and colleagues identified a PstI restriction-endonuclease site adjacent to the human APOA1 gene at its 3' end that is polymorphic. [26]

  • The absence and presence of this site, as determined by genomic blotting analysis of PstI-digested chromosomal DNA with the use of an APOA1 gene probe, were associated with 3.3-kilobase (kb) and 2.2-kb hybridization bands, respectively.

  • The 3.3-kb band appeared in 4.1% of 123 randomly selected control subjects and in 3.3% of 30 subjects with no angiographic evidence of coronary artery disease. In contrast, among 88 subjects who had severe coronary disease when younger than 60 years, as documented by angiography, the 3.3-kb band occurred in 32% (P< .001). It was also found in 8 of 12 index cases (P< .001) of kindreds with familial HA.

Thromboxane A2 levels

Decreased erythrocyte osmotic fragility

  • Frohlich and colleagues in 1990 and Godin and coauthors in 1988 described erythrocyte membrane abnormalities. [27, 28]

  • The observed changes in a number of structural and functional properties of erythrocytes in this disorder are indistinguishable from those previously described in homozygotes for LCAT deficiency.

  • Thus, in both of these disorders, an abnormality of plasma LCAT activity possibly causes functional and structural changes in the erythrocyte membrane, either directly or indirectly.

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