LDL Cholesterol Over 190mg/dL Associated With Lower Risk of Familial Hypercholesterolemia

For any given observed LDL cholesterol level, increased risk for CAD for FH mutation carriers
For any given observed LDL cholesterol level, increased risk for CAD for FH mutation carriers

HealthDay News — Familial hypercholesterolemia (FH) mutations are seen in less than 2% of individuals with low-density lipoprotein (LDL) cholesterol ≥190 mg/dL, according to a study published online April 3 in the Journal of the American College of Cardiology. The research is being published to coincide with the annual meeting of the American College of Cardiology, held from April 2 to 4 in Chicago.

Amit V. Khera, MD, from Harvard Medical School in Boston, and colleagues examined the prevalence of a FH mutation among those with severe hypercholesterolemia. They sequenced 3 genes causative for FH (LDLR, APOB, and PCSK9) in 26,025 participants from seven case-control studies (5,540 coronary artery disease [CAD] cases) and 8,577 CAD-free controls) and five prospective studies (11,908 participants).

The researchers found that 430 of the CAD-free control participants had low-density lipoprotein cholesterol ≥190 mg/dL; 1.9% of these carried a FH mutation. Similarly, 956 patients from the prospective cohorts had LDL cholesterol ≥190 mg/dL; 1.7 percent carried a FH mutation. The risk of CAD was higher among FH mutation carriers versus non-carriers within any stratum of observed LDL cholesterol.

"Among individuals with LDL cholesterol ≥190 mg/dL, gene sequencing identified a FH mutation in <2 percent," the authors write. "However, for any given observed LDL cholesterol, FH mutation carriers are at substantially increased risk for CAD."

Several authors disclosed financial ties to the biopharmaceutical industry; some of the studies received industry funding.

Full Text (subscription or payment may be required)
More Information

Loading links....