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Cardiovascular Risk Misperception and Low Awareness of Familial Hypercholesterolemia in Individuals with Severe
Raul D Santos1,2, Carolina Pereira3, Fernando Cesena1
1Hospital Israelita Albert Einstein , São Paulo , SP - Brasil.
Insights
Individuals with severe hypercholesterolemia often lack awareness of their atherosclerotic cardiovascular disease (ASCVD) risk and familial hypercholesterolemia (FH). This study highlights significant gaps in risk perception, screening, and treatment for these high-risk patients.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Severe hypercholesterolemia significantly increases the risk of atherosclerotic cardiovascular disease (ASCVD).
- Familial hypercholesterolemia (FH) is a common cause of severe hypercholesterolemia.
- Early detection and management are crucial for preventing ASCVD events.
Purpose of the Study:
- To evaluate patient awareness regarding severe hypercholesterolemia and FH.
- To assess risk perception of ASCVD among affected individuals.
- To examine cascade screening performance and treatment adherence in a routine health evaluation program.
Main Methods:
- Analysis of data from 70,000 Brazilian individuals evaluated between 2006 and 2016.
- Inclusion criteria: age ≥ 18 years, LDL-C ≥ 190 mg/dL (no statins) or ≥ 160 mg/dL (on statins).
- A random sample of 200 individuals completed a detailed questionnaire; FH diagnosis was physician-suspected.
Main Results:
- 97% of the sample had severe hypercholesterolemia; only 18% perceived high ASCVD risk.
- Awareness of FH was low (24.5%), with only 14% suspected of having FH.
- Cascade screening was performed by 17%, genetic testing by 2.5%, and 17% were untreated.
Conclusions:
- Significant gaps exist in risk perception, cholesterol management, and FH awareness among individuals with severe hypercholesterolemia.
- Low awareness and suboptimal screening/treatment highlight the need for improved patient education and healthcare strategies.
- Addressing these gaps is essential for reducing ASCVD burden in high-risk populations.
Background:
Individuals with severe hypercholesterolemia are at a high risk of developing atherosclerotic cardiovascular disease (ASCVD). Many of them have familial hypercholesterolemia (FH).
Objectives:
To assess from a patient perspective the degree of awareness about severe hypercholesterolemia, especially FH, ASCVD risk perception, cascade screening performance, and treatment of individuals participating in a routine health evaluation program.
Methods:
From a database of 70,000 Brazilian individuals evaluated between 2006 and 2016, 1,987 (2.8%) met the inclusion criteria (age ≥ 18 years and LDL-C ≥ 190 mg/dL or ≥ 160 mg/dL, respectively, if not in use of statins or on statin therapy). Two-hundred individuals were randomly invited to complete an extensive questionnaire. FH was diagnosed if suspected by the attending physician.
Results:
Although 97% of the sample (age 48±9 years; 16% women; 95% college/university education; 88% primary prevention; LDL-C 209±47 mg/dL) had severe hypercholesterolemia, only 18% and 29.5% believed to be at high ASCVD risk and reported knowledge of their recommended LDL-C goal, respectively. Fifty-eight percent reported being informed that high cholesterol could be a family disease, 24.5% (n = 49) had ever heard about FH, and merely 14% (n = 29) had been previously identified as suspected of having FH (age at FH diagnosis 35±12 years; 79% and 31% diagnosed, respectively, > 30 and > 40 years old). Only 2.5% underwent genetic tests, 17% underwent cascade screening, and 17% were not in use of pharmacological treatment.
Conclusions:
An important gap in risk perception, cholesterol management, and aspects related to FH was encountered in individuals with severe hypercholesterolemia. (Arq Bras Cardiol. 2021; [online].ahead print, PP.0-0).
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