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Published on: September 15, 2018
Association of peripheral arterial and cardiovascular diseases in familial hypercholesterolemia
Carolina Pereira1, Marcio Miname1, Marcia Makdisse2
1Instituto do Coração, HC, FM, USP, São Paulo, SP, Brazil.
Insights
Peripheral arterial disease (PAD) is linked to cardiovascular disease (CVD) in patients with familial hypercholesterolemia (FH). Ankle-brachial index screening in FH patients may indicate higher CVD risk.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Vascular Medicine
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL cholesterol, accelerating atherosclerosis and potentially leading to peripheral arterial disease (PAD).
- FH is associated with early obstructive lesions in various arterial beds, suggesting a link to PAD development.
Purpose of the Study:
- To investigate the association between peripheral arterial disease (PAD) and other cardiovascular diseases (CVD) in patients with heterozygous FH.
- To assess the feasibility and potential role of ankle-brachial index (ABI) screening for cardiovascular risk stratification in FH patients.
Main Methods:
- Observational, cross-sectional study of 202 patients with heterozygous FH (mean age 51 ± 14 years, total cholesterol 342 ± 86 mg/dL).
- Peripheral arterial disease (PAD) diagnosed using ankle-brachial index (ABI) ≤ 0.90.
- Prevalence of PAD and prior cardiovascular disease (CVD) recorded.
Main Results:
- Prevalence of PAD was 17% and previous CVD was 28.2% among the studied FH patients.
- Multivariate analysis revealed an independent association between CVD and PAD diagnosis (OR = 2.50; 95% CI: 1.004 - 6.230; p = 0.049).
Conclusions:
- Systematic ankle-brachial index (ABI) screening is feasible in familial hypercholesterolemia (FH) patients.
- PAD diagnosis in FH patients may signal an elevated risk for cardiovascular disease (CVD).
- Further research is needed to confirm ABI's role in assessing cardiovascular risk in FH.
Background:
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by an elevation in the serum levels of total cholesterol and of low-density lipoproteins (LDL- c). Known to be closely related to the atherosclerotic process, FH can determine the development of early obstructive lesions in different arterial beds. In this context, FH has also been proposed to be a risk factor for peripheral arterial disease (PAD).
Objective:
This observational cross-sectional study assessed the association of PAD with other manifestations of cardiovascular disease (CVD), such as coronary artery and cerebrovascular disease, in patients with heterozygous FH.
Methods:
The diagnosis of PAD was established by ankle-brachial index (ABI) values ≤ 0.90. This study assessed 202 patients (35% of men) with heterozygous FH (90.6% with LDL receptor mutations), mean age of 51 ± 14 years and total cholesterol levels of 342 ± 86 mg /dL.
Results:
The prevalences of PAD and previous CVD were 17% and 28.2 %, respectively. On multivariate analysis, an independent association between CVD and the diagnosis of PAD was observed (OR = 2.50; 95% CI: 1.004 - 6.230; p = 0.049).
Conclusion:
Systematic screening for PAD by use of ABI is feasible to assess patients with FH, and it might indicate an increased risk for CVD. However, further studies are required to determine the role of ABI as a tool to assess the cardiovascular risk of those patients.
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