Homozygous familial hypercholesterolemia: LDL Apheresis

Homozygous familial hypercholesterolemia results from full deficiency of malfunction of LDL receptors in the liver. Risk of coronary artery disease is skyrocketed. It is often hard to treat with statin-based combination therapy. Lipoprotein apheresis could be the only hope for affected individuals.

Please find below a nice case study of LDL-apheresis effectiveness in 3 siblings. Twice weekly session with 1.5 exchange volume brought LDL-C to target without any noticeable adverse events.


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Journal of Clinical LIPIDOLOGY

Case study

December 2016


Familial hypercholesterolemia (FH), the prevalent monogenic form of hypercholesterolemia, carries the risk of premature coronary heart disease. Lipoprotein-apheresis is established in children with severe dyslipidemia. We present 3 siblings with a negative/negative residual low-density lipoprotein (LDL) receptor mutation (p.Trp577Arg), unresponsive to drug treatment.


Intensified lipoprotein-apheresis is well tolerated and results in permanently low lipid values without harming the health-related quality of life in children.


Three homozygous FH siblings, aged 7–13 years, had been treated with statins and ezetimibe for 12 months but still showed highly elevated low-density lipoprotein cholesterol (LDL-C) plasma concentrations. They were started on double-filtration plasmapheresis that was subsequently intensified according to plasma lipid levels.


Each lipoprotein apheresis session reduced LDL-C concentration by 66% to 70%. Treated plasma volume was doubled after 6 months due to a sustained rebound of LDL-C between sessions. However, the rebound remained unchanged. Only an increase in frequency of sessions to every 3 to 4 days resulted in acceptable pre-treatment LDL-C concentrations (Cmax). Neither cessation of statins nor reduction of plasma exchange volume to 1.5 fold in follow-up influenced Cmax. Intensified therapy did not harm health-related quality of life as assessed by PedsQL and was well tolerated.


In pediatric FH patients unresponsive to drug treatment, intensified lipoprotein apheresis can normalize plasma lipid levels. Apparently, treatment frequency rather than volume has greater influence on its efficacy. The potential burden of intensified therapy to daily life has to be regarded. Serum lipid levels in FH should be normalized to minimize cardiovascular risk.