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The risk of atherosclerotic vascular disease in subjects with xanthomatosis
Insights
Xanthomatosis significantly increases the risk of early-onset cardiovascular disease, particularly coronary heart disease (CHD). Patients experience premature mortality, with reduced life expectancy compared to the general population.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Xanthomatosis is a rare condition characterized by the deposition of lipids in tissues.
- Atherosclerotic vascular disease is a known complication, but its specific impact on morbidity and mortality in xanthomatosis requires further investigation.
Purpose of the Study:
- To investigate the morbidity and mortality patterns in patients with xanthomatosis.
- To determine the primary manifestations and age of onset of atherosclerotic vascular disease in this cohort.
- To assess the impact of xanthomatosis on overall survival and cardiovascular death rates.
Main Methods:
- Retrospective analysis of 172 males and 164 females diagnosed with xanthomatosis.
- Detailed examination of initial clinical manifestations, focusing on coronary heart disease (CHD) and other atherosclerotic events.
- Comparison of mortality data with the general Norwegian population.
Main Results:
- Coronary heart disease (CHD) was the most frequent initial manifestation, with angina pectoris and myocardial infarction being common.
- Mean age for first symptoms of atherosclerotic vascular disease was 49 for men and 56 for women.
- Patients with xanthomatosis exhibited a significantly increased risk of cardiovascular death, including sudden deaths, with a mortality rate approximately double that of the general population and reduced life expectancy.
Conclusions:
- Xanthomatosis is strongly associated with premature atherosclerotic vascular disease and significantly increased cardiovascular mortality.
- Early recognition and management of xanthomatosis are crucial for mitigating severe cardiovascular complications and improving patient survival.
Abstract:
The morbidity and mortality in 172 males and 164 females with xanthomatosis have been investigated. Symptoms of coronary heart disease (CHD) were the most frequent initial manifestation of atherosclerotic vascular disease. Angina pectoris was the first symptom in about 3/4 of males as well as females; myocardial infarction was the first event in 26% of the males and 9% of the females. Other manifestations of atherosclerosis were comparatively rare and occurred late in life. Half of the subjects were affected with symptoms of atherosclerotic vascular disease by the age of 52 in men and 62 in women, the mean age for first symptoms being 49 and 56 years, respectively. No significant influence of other CHD risk factors than xanthomatosis and hyperlipidaemia was found in these patients. An increase in the number of cardiovascular deaths was seen in xanthomatosis patients, compared with the general population, in particular in the number of "sudden deaths". Half of the males died before the age of 66 and half of the females before the age of 74.5, which is about 10 and 7 years earlier than predicted at 30 years of age for the normal population. The cumulative relative mortality in both men and women was about twice that expected for the general Norwegian population until 70 years of age.
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