Familial Hypercholesterolemia:  Cardiologist and Patient PerspectivesWhen patients are first diagnosed with heart disease, cardiologists typically ask about cholesterol levels and family history of the disease. Patients are usually aware of their cholesterol levels and if they have a family history of high cholesterol. However, a recent CardioSurve survey of cardiologists and Mended Hearts patients shows both groups have a very low awareness of the topic of familial hypercholesterolemia (FH), an inherited disorder of very high LDL which begins at childhood and can lead to heart attacks, strokes or CV disease over time.

The latest research indicates that FH affects one out of every 500 people.1 However, survey results indicate that patients who have a higher potential to have the disease —those with high cholesterol or family history of high cholesterol—are no more familiar with FH than other patient types.

Familial Hypercholesterolemia:  Cardiologist and Patient PerspectivesA considerable percentage of both cardiologists and patients are also uncertain about the likelihood of a person to have FH, even with first-degree relatives with the condition. Most patients surveyed were unable to recommend a screening age for children with a family history of FH or premature cardiac disease and/or estimate the probability that a person with a family history of FH will also have the disease.

Meanwhile, nearly all cardiologists surveyed (95%) agreed that patients with FH have a moderate/high risk for future CV events. However, given their limited exposure to FH, those surveyed expressed average confidence in their ability to diagnose and treat FH.

Two out of three cardiologists indicated that they would like to expand their knowledge in the area of FH. Moving forward, the survey showed that cardiologists are generally interested in the overarching cholesterol and hyperlipidemia clinical pathway. Additionally, the majority of physicians (69%) have access to lipid specialists and clinics in their geographic area, which could be leveraged to support the diagnosis and treatment of FH.

Several studies also have pointed to the significant potential of identifying new cases of FH in primary care, which could act as new index cases for a family screening program. Few screening efforts are currently in place. The authors of these studies suggest, for example, a computerized search, together with selected chart review, can aid in the identification of such patients.2 In the end, although cardiologists do have sensitivity to the serious implications of FH, education about the condition and its treatment could be much more widely disseminated.

An increase in the resources and materials that focus on FH could prove beneficial to both physicians and patients managing this condition.


  1. Austin M, et al. Am J Epidemiol. 2004; 160: 407-420.
  2. Gray J, Jaiyeola A, Whiting M, Modell M, Wierzbicki AS. Heart 2008; 94: 754-758.