Familial hypercholesterolemia and cardiovascular disease in older individuals

Coutinho, Elaine dos Reis; Miname, Márcio H.; Rocha, Viviane Z.; Bittencourt, Márcio Sommer; Tada, Maurício Teruo; Lima, Isabella Ramos; Filho, Wilson Albino Pimentel; Chacra, Ana P.M.; Pereira, Alexandre C.; Krieger, José Eduardo

doi:10.1016/j.atherosclerosis.2020.12.012

Cited by 18 publications

(7 citation statements)

References 40 publications

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“…The risk of developing atherosclerosis and of having a CVD event has also been shown to be proportional to the long-term exposure to high LDL-C values and the presence of pathogenic genetic variation, as previously shown by our group and others [ [32] , [33] , [34] ]. Since the FH/M+ group had a higher mean LDL-C and an expectedly higher cumulative exposure, we could also expect that this group would have an increased frequency of CVD than the FH/M− , as shown in this study.…”

Section: Discussionsupporting

confidence: 68%

Polygenic risk score for hypercholesterolemia in a Brazilian familial hypercholesterolemia cohort

Lima

Tada

Oliveira

et al. 2022

Atherosclerosis Plus

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Section: Discussionsupporting

confidence: 68%

Polygenic risk score for hypercholesterolemia in a Brazilian familial hypercholesterolemia cohort

Lima

Tada

Oliveira

et al. 2022

Atherosclerosis Plus

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“…Except for the rare homozygous FH phenotype—where the risk of early ASCVD is almost universal 10 , 28 , 29 and highly dependent on LDL-C concentrations—the risk in heterozygous FH is heterogeneous and depends on many factors. 10 , 30 , 31 , 32 , 33 Prospective studies have shown that even for individuals with confirmed genetic defects, this risk depends not only on higher LDL-C but also on male sex, 30 , 33 late treatment onset, 10 smoking, 30 , 32 higher lipoprotein(a) levels, 30 , 34 presence of type 2 diabetes or hypertension, 26 lower HDL-cholesterol, 35 and the presence of subclinical coronary atherosclerosis. 31 …”

Section: Natural History and Heterogeneity Of Ascvd Risk In Fhmentioning

confidence: 99%

Past, Present, and Future of Familial Hypercholesterolemia Management

Rocha

Santos

2021

Methodist DeBakey Cardiovascular Journal

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Familial hypercholesterolemia (FH) is a monogenic form of severe hypercholesterolemia that, if left untreated, is associated with early onset of atherosclerosis. FH derives from genetic variants that lead to inefficient hepatic clearance of low-density lipoprotein (LDL) particles from the circulation. The FH phenotype is encountered in approximately 1 of every 300 people. The risk of atherosclerotic cardiovascular disease (ASCVD) is higher in those with FH than in normolipidemic individuals and in those with polygenic hypercholesterolemia. FH is usually diagnosed by clinical scores that consider hypercholesterolemia, family history of early ASCVD and hypercholesterolemia, and cutaneous stigmata. Genetic diagnosis is important and should be offered to individuals suspected of FH. Family cascade screening is important to identify asymptomatic hypercholesterolemic individuals. Despite the high risk of ASCVD, this risk is heterogenous in heterozygous FH and depends not only on high LDL cholesterol (LDL-C) but also on other risk biomarkers. Risk can be evaluated by considering biomarkers such as male sex, late-onset therapy (> age 40), LDL-C > 310 mg/dL, low high-density lipoprotein cholesterol, elevated lipoprotein(a), obesity, diabetes, and hypertension by using specific risk equations and by detecting subclinical coronary atherosclerosis. Statins are the main therapy for FH and change the natural history of ASCVD; however, most individuals persist with elevated LDL-C. PCSK9 inhibitors provide robust and safe LDL-C lowering in FH, although elevated costs preclude their widespread use. Newer therapies such as ANGPTL3 inhibitors add intensive LDL-C lowering for refractory forms of FH. Finally, while it is possible to normalize LDL-C in people with FH, the disease unfortunately is still severely underdiagnosed and undertreated.

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“…Thus, it has been speculated that other factors could also play a role in the inter-individual ACVD variation in this specific population [8]. In this respect, it has also been pointed out that a subgroup of HeFH subjects of a more advanced age do not develop ACVD during their lifetime [9,10]. However, the possible associated factors to the cardiovascular-event free survival in these individuals have not been fully established.…”

Section: Introductionmentioning

confidence: 99%

Resilient Older Subjects with Heterozygous Familial Hypercholesterolemia, Baseline Differences and Associated Factors

Climent,

González-Guerrero,

Marco-Benedí

et al. 2024

IJMS

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Despite elevated low-density lipoprotein (LDL) cholesterol levels, some older subjects with heterozygous familial hypercholesterolemia (HeFH) do not develop atherosclerotic cardiovascular disease (ACVD) during their lifetime. The factors related to this resilient state have not been fully established. The aim of this study was to evaluate differential characteristics between older HeFH subjects with and without ACVD and factors associated with the presence of ACVD. Subjects were part of the Spanish Atherosclerosis Society Dyslipidemia Registry, and those ≥ 70 years old and with HeFH were included. Baseline characteristics of these subjects with and without ACVD were compared. A multivariate analysis was performed to assess factors associated with the presence of ACVD. A total of 2148 subjects with HeFH were included. Resilient subjects were mostly female, younger and presented fewer comorbidities with respect to the ACVD group. Subjects without ACVD had higher baseline high-density lipoprotein (HDL) cholesterol (55.8 ± 17.1 vs. 47.9 ± 15.4 mg/dL; p < 0.001) and lower lipoprotein(a) [Lp(a)] (53.4 ± 67.9 vs. 66.6 ± 85.6 mg/dL; p < 0.001) levels with respect to those in the ACVD group. Lp(a) and the presence of ≥3 risk factors were associated with the presence of ACVD.

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Familial hypercholesterolemia and cardiovascular disease in older individuals

Cited by 18 publications

References 40 publications

Polygenic risk score for hypercholesterolemia in a Brazilian familial hypercholesterolemia cohort

Polygenic risk score for hypercholesterolemia in a Brazilian familial hypercholesterolemia cohort

Past, Present, and Future of Familial Hypercholesterolemia Management

Resilient Older Subjects with Heterozygous Familial Hypercholesterolemia, Baseline Differences and Associated Factors

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