Related Experiment Videos
Peripheral atherosclerosis in familial hypercholesterolaemia
V Perhoniemi1, H Gylling, K Salmenkivi
1Second Department of Surgery, University of Helsinki, Finland.
Insights
Peripheral atherosclerosis is common in familial hypercholesterolaemia, affecting 65% of patients studied. This multilevel disease impacts peripheral arteries, unlike previously thought.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolaemia (FH) is a genetic disorder characterized by high LDL cholesterol.
- Peripheral atherosclerosis is typically considered infrequent in FH patients.
- FH is a significant risk factor for coronary artery disease.
Purpose of the Study:
- To investigate the prevalence of peripheral atherosclerosis in asymptomatic patients with heterozygous familial hypercholesterolaemia.
- To compare the incidence of peripheral atherosclerosis in FH patients versus a normolipidaemic control group.
- To explore correlations between peripheral atherosclerosis and traditional risk factors or lipid metabolism in FH.
Main Methods:
- Study included 20 asymptomatic FH patients and age/sex-matched controls.
- Non-invasive assessment using ankle-arm systolic blood pressure ratio at rest.
- Exclusion of patients with symptoms of vascular disease.
Main Results:
- Peripheral atherosclerosis was highly prevalent (65%) in FH patients, with abnormal ankle-arm systolic blood pressure ratio (<0.97).
- Only one individual in the control group had an abnormal ratio.
- Eight FH patients had coronary artery disease; seven also had asymptomatic peripheral artery disease.
- No correlation found between peripheral atherosclerosis and classical risk factors or lipid parameters.
Conclusions:
- Atherosclerosis in familial hypercholesterolaemia is a multilevel disease.
- Peripheral arteries are frequently affected by atherosclerosis in FH patients.
- Early detection and management of peripheral atherosclerosis in FH are crucial.
Abstract:
Unlike coronary artery disease, peripheral atherosclerosis is considered to be infrequent in heterozygous familial hypercholesterolaemia. The authors studied 20 consecutive asymptomatic familial hypercholesterolaemic patients and an age- and sex-matched control group of consecutive normolipidaemic and asymptomatic patients admitted to the hospital for elective non-vascular surgery. The patients and the controls were studied non-invasively by measuring the ankle-arm systolic blood pressure ratio at rest. Peripheral atherosclerosis was common in this study population in contrast to the control group: an abnormal (less than 0.97) pressure ratio was found in 13 patients (65%) in the study group but in only one person in the control group. Eight out of 20 patients had coronary artery disease, and seven of them had an asymptomatic concomitant peripheral artery disease. Neither the classical risk factors, i.e. age, smoking, obesity, hypertension and glucose intolerance, nor serum lipid or lipoprotein status or the parameters of cholesterol metabolism correlated with peripheral atherosclerosis. It is concluded that atherosclerosis in familial hypercholesterolaemia is a multilevel disease that frequently affects also the peripheral arteries.