Background: Familial Hypercholesterolemia (FH) is an autosomal dominant disorder causing increased levels of total and LDL cholesterol (LDL-C). When onset is in early childhood, it is associated with higher risk of coronary heart disease and hence the emphasis on early identification and strict management to improve the life expectancy. Of the two types of FH, the homozygous variant is the most severe form associated with extremely high levels of LDL.
Aim: To present the sequential changes in LDL-C levels, anthopometry and pharmacotherapy in 2 children with severe pre-pubertal onset FH treated with a single drug and/or a combination during a period of 8 years with regular monitoring of cholesterol levels.
Methods: Two pre-pubertal children, diagnosed in 2009 and 2010 with severe FH, high LDL-C levels at presentation (>15.6 mmol/L=600 mg/dl), good compliance to diet and medications prescribed were chosen. Data was retrospectively collected to look at the growth, medications used and doses at which they were used. LDL-C levels were charted over 8 years and percent reduction from peak LDL-C was determined.
Results: Child A and B presented with xanthomas following which a lipid panel confirmed FH. Child A (5 y 7m) and B (2 y 6 m) had LDL levels suggestive of homozygous FH at 17.4mmol/L and 16.0 mmol/L respectively. Both of them were initiated on colestyramine resulting in LDL-C reductions from peak to 43.2% (9.9 mmol/L) and 34.4% (10.5 mmol/L) with colestyramine monotherapy alone. Since colestyramine monotherapy was unable to achieve further improvement, a statin was added. On a combination of statin and colestyramine, the LDL-C levels fell further to 60.4% and 47.5% from peak corresponding to 6.9 mmol/L and 8.4 mmol/L respectively. When ezetimibe was combined with statin, LDL-C levels continued to fall further to 71.9% and 60.7% from peak, corresponding to 4.9 mmol/L and 6.3 mmol/L which were their lowest attained levels, respectively. Growth data plotted over the 8 years of follow up showed that growth was not affected.
Conclusions: Combination therapy was able to achieve 6072% reduction of LDL-C levels from peak. Ezetimibe/Statin combination was more effective than colestyramine/statin in lowering LDL-C. Although statins are not yet recommended as initial pharmacotherapy in very young children with FH, colestyramine monotherapy is unable to achieve 50% reduction in our patients.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology