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. 2021 Mar;116(4):706-712.
doi: 10.36660/abc.20190516.

Cardiovascular Risk Misperception and Low Awareness of Familial Hypercholesterolemia in Individuals with Severe Hypercholesterolemia

[Article in English, Portuguese]
Raul D Santos  1   2 , Carolina Pereira  3 , Fernando Cesena  1 , Antonio Gabriele Laurinavicius  1 , Viviane Tabone  1 , Marcio Sommer Bittencourt  1
Affiliations

Cardiovascular Risk Misperception and Low Awareness of Familial Hypercholesterolemia in Individuals with Severe Hypercholesterolemia

[Article in English, Portuguese]
Raul D Santos et al. Arq Bras Cardiol. 2021 Mar.

Abstract
in English, Portuguese

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).

Fundamento: Indivíduos com hipercolesterolemia grave apresentam alto risco de desenvolver doença cardiovascular aterosclerótica (DCVA). Muitos deles apresentam hipercolesterolemia familiar (HF).

Objetivos: Avaliar, a partir da perspectiva dos pacientes, o nível de conhecimento sobre a hipercolesterolemia grave, especialmente em relação a HF, DCVA, percepção de risco, desempenho do rastreamento em cascata e tratamento de indivíduos participantes de um programa de avaliação periódica de saúde.

Métodos: De um banco de dados de 70.000 brasileiros avaliados entre 2006 e 2016, 1.987 (2,8%) atenderam aos critérios de inclusão (idade ≥ 18 anos e LDL-C ≥ 190 mg/dL ou ≥ 160 mg/dL se sem uso de estatinas ou em terapia com estatinas, respectivamente). Desses, 200 foram aleatoriamente convidados a preencher um questionário extenso. A HF foi diagnosticada em caso de suspeita pelo médico responsável.

Resultados: Embora 97% da amostra (48±9 anos; 16% do sexo feminino; 95% com ensino superior; 88% em prevenção primária; LDL-C 209±47 mg/dL) tenha apresentado hipercolesterolemia grave, apenas 18% e 29,5% se consideravam de alto risco para desenvolver DCVA e relataram saber sua meta recomendada de LDL-C, respectivamente. Em relação à possibilidade de o colesterol alto ser uma doença hereditária, 58% relataram conhecimento sobre o fato; 24,5% (n = 49) já tinham ouvido falar em HF; e apenas 14% (n = 20) foram previamente identificados com suspeita de HF (idade ao diagnóstico de HF: 35±12 anos; 79% e 31% foram diagnosticados com > 30 e > 40 anos, respectivamente). Apenas 2,5% foram submetidos a testes genéticos; 17%, à rastreamento em cascata; e 17% não faziam uso de tratamento farmacológico.

Conclusões: Identificou-se uma importante lacuna na percepção de risco, no controle do colesterol e em aspectos relacionados à HF em indivíduos com hipercolesterolemia grave. (Arq Bras Cardiol. 2021; [online].ahead print, PP.0-0).

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Conflict of interest statement

Potencial conflito de interesses

Raul D. Santos recebeu honorários relacionados a atividades de consultoria, pesquisa e palestrante de: Akcea, Amgen, Astra Zeneca, Biolab, Esperion, Kowa, Merck, MSD, Novo-Nordisk, Abbott, Pfizer, EMS, GETZ Pharma, LIbbs, Novartis, e Sanofi Regeneron.

Antonio Gabriele Laurinavicius é um ex-funcionário da Sanofi.

Marcio Sommer Bittencourt recebeu honorários da Boston Scientific.

Figures

Figura 1 (Ilustração Central)
Figura 1 (Ilustração Central). – Sumariza os principais achados do estudo em toda a amostra (n = 200) e naqueles aonde foi feita suspeita de HF (n = 29). HF: Hipercolesterolemia familiar; LDL-C: LDL-colesterol.
Figura 2
Figura 2. Frequência de idade ao diagnóstico/suspeita de hipercolesterolemia familiar (HF).
Figure 1
Figure 1. – Central Illustration summarizes main study results in the entire study population (n = 200) and in those suspected of FH (n = 29). FH: familial hypercholesterolemia; LDL-C: low-density lipoprotein cholesterol.
Figure 2
Figure 2. – Frequency of age when FH was suspected/diagnosed. FH: familial hypercholesterolemia.
See this image and copyright information in PMC

Comment in

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