Impact of LDL apheresis on aortic root atheroma in children with homozygous familial hypercholesterolemia.

BACKGROUND

Homozygous familial hypercholesterolemia (HFH) is a rare genetic disease leading to early onset atherosclerosis, due to high concentrations of LDL-C in the blood. Aortic root atheromas may be complicated by obstruction to left ventricle outflow or coronary stenosis. The aim of this study was to describe the progression of aortic root atheroma in patients requiring lipoprotein apheresis before 16 years of age and to examine the requirement of these patients for aortic surgery.

METHOD

Clinical reports, lipid profiles and echocardiogram results were obtained retrospectively for patients with HFH from three French hemapheresis centers. Data are presented as group medians.

RESULTS

Twenty patients were included, of which 53% had aortic root atheroma (as assessed by echocardiogram) before starting lipoprotein apheresis. These patients began lipoprotein apheresis later than children without aortic root atheroma (10.3 years old [range 5.6-15.9 years] vs. 5.0 years old [range 4.5-11.6 years], respectively, p < 0.05). After 16.4 years (range 2.2-22.8 years) of lipoprotein apheresis treatment, aortic root atheroma had progressed in 64% of patients. Five patients needed surgery for aortic stenosis, which was associated with a coronary artery by-pass for two of them. There were significantly more operations among patients with an aortic root atheroma at the beginning of lipoprotein apheresis than among patients without preexisting lesions (p < 0.01). One patient died after aorta replacement surgery during this period.

CONCLUSION

Our results suggest that the initiation of lipoprotein apheresis before the onset of aortic root atheroma should reduce the requirement for aortic surgery.