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[LDL-apheresis therapy, methods and indications]
U Assogba1, F Dairou, G Turpin
1ETS AP-HP (UA), Site Transfusionnel, Service d'Endocrinologie, G.H. Pitié-Salpêtrière.
Insights
Homozygote hypercholesterolemia is a severe genetic disorder causing extremely high cholesterol. LDL-apheresis is the most effective treatment to lower cholesterol and prevent cardiovascular complications.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Biochemistry
Context:
- Homozygote hypercholesterolemia (HoH) is a severe autosomal dominant disorder.
- Characterized by extremely high serum cholesterol levels (>6 g/l) due to absent LDL-receptors.
- Leads to high atherogenic potential, with sudden death risk starting at age 10 and near 100% mortality by 20.
Purpose:
- To highlight the severity of Homozygote hypercholesterolemia.
- To discuss LDL-apheresis as the primary treatment modality.
- To compare the availability and financing of LDL-apheresis techniques across European countries.
Summary:
- HoH is a life-threatening condition with early mortality due to severe hypercholesterolemia.
- LDL-apheresis is the most effective treatment for lowering LDL cholesterol and preventing cardiovascular events.
- Specific LDL-apheresis techniques, though costly, are crucial for pediatric patients, but their development is hindered by financing issues in France.
Impact:
- LDL-apheresis offers a vital therapeutic option for drug-resistant HoH patients.
- Effective cholesterol lowering can mitigate severe cardiovascular complications and improve long-term prognosis.
- Addressing financing disparities is crucial for equitable access to advanced treatments like LDL-apheresis, especially for children.
Abstract:
A SEVERE DISEASE: Homozygote hyper cholestrolemia is a very severe disease with an extremely high atherogenic potential. The risk of sudden death starts at about the age of 10 years and mortality reaches nearly 100% at 20 years. In this homozygote autosomal dominant disorder, serum cholesterol rises above 6 g/l due to a total deficiency of LDL-receptors. LDL-APHERESIS: The treatment of choice, LDL-apheresis, is an aggressive treatment. Drug regimens and palliative surgery have little or no effect. Liver transplantation is highly effective but compromises long term prognosis. LDL-apheresis, indicated in case of drug resistance, can be used to clear atherogenic LDL particles extracorporally. Currently it is the most effective means of lowering serum cholesterol in these patients and avoid potential cardiovascular complications. SEVERAL TECHNIQUES: The most specific techniques are also the most costly. These techniques allow treating whole blood or previously separated plasma. Such specific techniques are indicated in children. Compared with other European countries such as Germany, the development of these techniques has been retarded in France due to the lack of financing by the national health insurance system.