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Familial homozygous hypercholesterolemia: clinical and cardiovascular features in 18 patients
G J Brook1, S Keidar, M Boulos
1Department of Pediatrics A, Rambam Medical Center, Technion Faculty of Medicine, Haifa, Israel.
Insights
Homozygous familial hypercholesterolemia (HFH) causes severe atherosclerosis in young patients. Early screening with coronary arteriography and aortography is recommended to detect and monitor this rare genetic disease.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Homozygous familial hypercholesterolemia (HFH) is a rare, severe autosomal dominant disorder.
- Characterized by accelerated atherosclerosis and premature cardiovascular events.
Purpose of the Study:
- To investigate the prevalence and characteristics of cardiovascular disease in pediatric and young adult HFH patients.
- To assess the utility of early diagnostic imaging in managing HFH.
Main Methods:
- Retrospective analysis of 18 HFH patients (ages 6-30) from 9 families.
- Clinical assessment, lipid profiles, echocardiography, coronary arteriography, and supravalvular aortography.
Main Results:
- Elevated LDL cholesterol (mean 550 mg/dl) and early cardiovascular manifestations (angina, myocardial infarction).
- High prevalence of coronary artery disease (6/11 patients) and supravalvular aortic narrowing (6/11 patients).
- Left main coronary stenosis in 3/11 patients and significant aortic narrowing in 2/11.
Conclusions:
- Coronary artery disease is highly prevalent in HFH patients, even at a young age.
- Early noninvasive and invasive imaging (coronary arteriography, aortography) is crucial for detection and monitoring.
- Aggressive management strategies are needed to mitigate cardiovascular risk in HFH.
Abstract:
Homozygous familial hypercholesterolemia (HFH) is a very rare autosomal dominant disease characterized by accelerated severe atherosclerosis. We examined 18 patients from 9 families with HFH. The age range was 6-30 years (mean = 16 years). Male to female ratio was equal. All patients had huge, multiple tuberous xanthomas on the skin and tendons. Mean +/- standard deviation of plasma cholesterol, triglycerides, low-density lipoproteins (LDL), and high-density lipoproteins (HDL) cholesterol levels were 608 +/- 89, 122 +/- 39, 550 +/- 88, and 26 +/- 8 mg/dl, respectively. Five patients (28%) had angina pectoris, two sustained a myocardial infarction, and one died at the age of 15 years. Two-dimensional echocardiography demonstrated supravalvular aortic stenosis in 3 of the 13 patients (23%). Coronary arteriography performed in 11 patients demonstrated significant obstruction in 6 patients, 2 each with single-, double-, and triple-vessel disease. Left main stenosis was present in 3 patients (27%). Supravalvular aortic narrowing was demonstrated in 6 patients (54%) and was associated with a gradient in 2 (25 and 35 mmHg, respectively). Segmental contraction abnormalities were detected in 2 of the 11 patients (18%). It is concluded that coronary artery disease is prevalent in patients with HFH and, based on the data presented, we recommend the performance of noninvasive technique, coronary arteriography and supravalvular aortography at an early age to detect and to follow the progression of the disease.