Cardiovascular disease in children with homozygous familial hypercholesterolemia

Abstract

Background and Aims : Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder leading to extremely increased LDL-C, resulting in high risk for cardiovascular disease (CVD) in early childhood. Earliest initiation of lipid lowering treatment is required to prevent premature CVD. Therapy consists of fat-reduced diet, lipid-lowering medication (LLM), and additional lipid apheresis (LA) in severe cases. The aim of the study was to evaluate cardiovascular pathology in children with hoFH.Results: All children needed LLM, and four children additional LA with weekly or biweekly intervals starting at the age of 3 to 5 years, due to extremely elevated LDL-C levels, which reduced LDL-C by >60% (Table 1). Three children had increased IMT. After initiation of LA, IMT improved or remained stable. Initially, cCT showed regular cardiac results. Despite LA, after five to six years three children developed mild calcification of the aorta ascendens or the aortic valve. Moreover, one ten-year-old girl developed a severe aortic valve calcification with high-grade stenosis (aortic jet velocity 3.8 m/s), now under consideration for cardiac surgery.Conclusions: We could show that intensive LLM and LA starting at early age seem to prevent rapid coronary atherosclerosis; nevertheless, aortic calcification (including the valve) may occur. Regular screening for CVD in hoFH children is crucial. Background and Aims : Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder leading to extremely increased LDL-C, resulting in high risk for cardiovascular disease (CVD) in early childhood. Earliest initiation of lipid lowering treatment is required to prevent premature CVD. Therapy consists of fat-reduced diet, lipid-lowering medication (LLM), and additional lipid apheresis (LA) in severe cases. The aim of the study was to evaluate cardiovascular pathology in children with hoFH. Results: All children needed LLM, and four children additional LA with weekly or biweekly intervals starting at the age of 3 to 5 years, due to extremely elevated LDL-C levels, which reduced LDL-C by >60% (Table 1). Three children had increased IMT. After initiation of LA, IMT improved or remained stable. Initially, cCT showed regular cardiac results. Despite LA, after five to six years three children developed mild calcification of the aorta ascendens or the aortic valve. Moreover, one ten-year-old girl developed a severe aortic valve calcification with high-grade stenosis (aortic jet velocity 3.8 m/s), now under consideration for cardiac surgery. Conclusions: We could show that intensive LLM and LA starting at early age seem to prevent rapid coronary atherosclerosis; nevertheless, aortic calcification (including the valve) may occur. Regular screening for CVD in hoFH children is crucial.