Familial Hypercholesterolemia and Lipoprotein Apheresis

Area of Science:

• Cardiology
• Metabolic Disorders
• Medical Technology

Background:

• Familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein (LDL) cholesterol, a key factor in atherosclerosis.
• Lipoprotein apheresis is an established treatment for refractory FH, aiming to remove pathogenic LDL.
• Available apheresis procedures in Japan include plasma exchange, double-membrane filtration, and selective LDL adsorption.

Purpose of the Study:

• To evaluate the long-term prognosis of patients with homozygous FH (HoFH) and heterozygous FH (HeFH) undergoing lipoprotein apheresis.
• To determine the optimal timing for initiating lipoprotein apheresis in HoFH patients.
• To assess the continued benefit of lipoprotein apheresis in HeFH patients, particularly in the context of new lipid-lowering therapies.

Main Methods:

• Observational study analyzing patient data from lipoprotein apheresis treatments.
• Comparison of outcomes based on age at initiation of apheresis for HoFH patients.
• Analysis of outcomes for HeFH patients who continued or discontinued apheresis therapy.

Main Results:

• HoFH patients initiating lipoprotein apheresis in adulthood showed a poorer prognosis compared to those treated from childhood, highlighting the need for early intervention.
• HeFH patients who discontinued apheresis therapy experienced a worse prognosis than those who continued treatment, suggesting ongoing benefit for very-high-risk individuals.
• Despite advancements in lipid-lowering agents like PCSK9 inhibitors, lipoprotein apheresis remains a highly effective option for FH patients with severe atherosclerotic cardiovascular disease.

Conclusions:

• Early initiation of lipoprotein apheresis in childhood is critical for improving the prognosis of HoFH patients.
• Lipoprotein apheresis provides significant long-term benefits for very-high-risk HeFH patients, even when LDL cholesterol is controlled by other medications.
• Lipoprotein apheresis continues to be a valuable therapeutic option for managing severe FH and preventing cardiovascular events, especially in patients with advanced atherosclerosis.