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[Extracardiac atherosclerosis in patients with familial hypercholesterolemia]
Insights
Familial hypercholesterolemia (FHC) patients develop widespread atherosclerosis, particularly in carotid arteries, even without other risk factors. Early detection of carotid artery disease in FHC is crucial.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FHC) is a genetic disorder characterized by extremely high levels of low-density lipoprotein (LDL) cholesterol.
- Accelerated atherosclerosis is a known complication of FHC, but the extent and early signs across different vascular beds require further elucidation.
Observation:
- A study of 64 FHC patients (3 homozygous, 9 heterozygous) revealed significant atherosclerosis in carotid and peripheral arteries in 12 individuals.
- Coronary atherosclerosis was present in all 3 homozygotes and 8 heterozygotes.
- Clinical symptoms of cerebrovascular insufficiency were noted in 3 patients with carotid artery disease.
Findings:
- FHC patients exhibit generalized atherosclerosis, affecting extracardiac vasculature, aorta, and coronary arteries.
- While atherosclerosis is common, symptomatic peripheral artery disease occurred in only 5 heterozygotes, despite 10 showing signs of aortic/peripheral atherosclerosis.
- Non-cholesterol risk factors appear to play a minimal role in FHC-related atherosclerosis development.
Implications:
- Regular screening for carotid artery atherosclerosis in FHC patients is recommended, as it may be detected earlier than coronary atherosclerosis.
- Findings underscore the systemic nature of atherosclerosis in FHC and the importance of early intervention.
- Understanding the progression of atherosclerosis in FHC can inform targeted therapeutic strategies.
Abstract:
Among 64 patients with familial hypercholesterolemia (FHC) confirmed by tissue culture of skin fibroblasts (3 homozygotes, 9 heterozygotes) 12 (3 homozygotes, 9 heterozygotes) had signs of atherosclerosis of the carotid arteries and of the peripheral arteries (extracardiac vasculature). 8 heterozygotes as well as the three homozygotes had coronary atherosclerosis. Three of the 12 patients with carotid artery disease suffered from clinical symptoms of cerebrovascular insufficiency. Only five patients with heterozygous FHC had symptomatic peripheral artery disease though 10 including the three homozygotes had signs of atherosclerosis of the abdominal aorta and its peripheral branches. It is concluded that patients with FHC develop generalized atherosclerosis but not always symptoms of peripheral artery disease. Risk factors other than hypercholesterolemia do not seem to contribute essentially to the development of atherosclerosis. It seems important to evaluate patients with FHC regularly for atherosclerosis of the carotid arteries which might be recognized earlier than coronary atherosclerosis.