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...
  • Print
Answer

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.


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!