Santos Raul D, Pereira Carolina, Cesena Fernando, Laurinavicius Antonio Gabriele, Tabone Viviane, Bittencourt Marcio Sommer
Hospital Israelita Albert Einstein , São Paulo , SP - Brasil.
Instituto do Coração (InCor) do Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo , São Paulo , SP - Brasil.
Arq Bras Cardiol. 2021 Mar;116(4):706-712. doi: 10.36660/abc.20190516.
Individuals with severe hypercholesterolemia are at a high risk of developing atherosclerotic cardiovascular disease (ASCVD). Many of them have familial hypercholesterolemia (FH).
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.
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.
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.
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).
严重高胆固醇血症患者发生动脉粥样硬化性心血管疾病（ASCVD）的风险很高。他们中的许多人患有家族性高胆固醇血症（FH）。
从患者角度评估参与常规健康评估项目的个体对严重高胆固醇血症，尤其是FH的知晓程度、ASCVD风险认知、级联筛查执行情况及治疗情况。
从2006年至2016年接受评估的70000名巴西个体的数据库中，1987名（2.8%）符合纳入标准（年龄≥18岁，未使用他汀类药物时LDL-C≥190mg/dL，或使用他汀类药物治疗时LDL-C≥160mg/dL）。随机邀请200名个体完成一份详尽问卷。若主治医生怀疑则诊断为FH。
尽管样本中97%（年龄48±9岁；16%为女性；95%接受过大学教育；88%为一级预防；LDL-C 209±47mg/dL）患有严重高胆固醇血症，但分别只有18%和29.5%的人认为自己有高ASCVD风险并知晓其推荐的LDL-C目标。58%的人报告被告知高胆固醇可能是一种家族性疾病，24.5%（n = 49）曾听说过FH，而此前仅14%（n = 29）被怀疑患有FH（FH诊断时年龄35±12岁；分别有79%和31%在>30岁和>40岁时被诊断）。仅2.5%的人接受了基因检测，17%的人接受了级联筛查，17%的人未接受药物治疗。
严重高胆固醇血症患者在风险认知、胆固醇管理及与FH相关的方面存在重大差距。（《巴西心脏病学杂志》。2021年；[在线]。预印本，PP.0 - 0）
