Familial hypercholesterolemia: peripheral ultrasound does not replace cardiac CT

Why compare these examinations

Familial hypercholesterolemia is characterized by lifelong exposure to high cholesterol and premature atherosclerotic cardiovascular disease. According to the abstract, unequivocal evidence of atherosclerosis on imaging moves patients from high risk to very high risk.

The researchers assessed the ability of carotid and femoral ultrasound to detect silent coronary atherosclerosis, using cardiac CT as the comparison examination. The question therefore concerns the diagnostic value of these ultrasound examinations, not their ability to prevent a heart attack.

A review based on few comparable studies

The systematic review includes thirteen studies, but only three were included in the meta-analysis. The literature search covered eight bibliographic databases and two trial registries, with an update on August 14, 2026. Study quality was assessed using QUADAS-2, a tool designed for diagnostic accuracy studies.

The pooled prevalence estimates were 68.5% for carotid plaques and 56.5% for femoral plaques. For the composite coronary disease outcome, the estimate was 46.4%. These results concern the populations studied and cannot predict the result of an individual examination.

Specificity too low to replace CT

Peripheral ultrasound had an estimated sensitivity of 78.9%, with a reported interval of 51.5 to 93.0%. Its specificity was 32.0%, with an interval of 14.0 to 57.6%. These wide intervals make the estimates uncertain.

Sensitivity describes the ability to identify people who have the condition being investigated. Specificity describes the ability to identify those who do not. Here, the low specificity limits the use of peripheral ultrasound as a substitute for CT to assess the coronary arteries.

Nevertheless, the authors consider a possible triage role for risk stratification. This possibility is not a validated strategy: they call for more studies to determine how to coordinate testing and treatment in this population.

What we can take away

These data do not justify replacing cardiac CT with carotid or femoral ultrasound in the adults with familial hypercholesterolemia studied. A role in guiding further testing remains possible, but is not established.