The Treatment Pattern and Economic Burden of Homozygous Familial Hypercholesterolemia in China: A Study based on a Patient-Survey

Objective: The study aimed to investigate the treatment pattern and economic burden of homozygous familial hypercholesterolemia (HoFH) in China, and to evaluate the incidence rate of catastrophic health expenditure (CHE) of HoFH patients and their families.Methods: Patients with HoFH diagnosed and treated in Beijing An’Zhen Hospital was included. A questionnaire was developed to investigate and capture the relevant variables of the participants.Results: A total of 120 HoFH patients were investigated, and the number of children (age under 18) was 1.2 times more than adults (age above 18). There were 113 patients with basic medical insurance (including 61 patients with new rural cooperative medical insurance), 4 patients with commercial insurance and 3 patients without any insurance. There were 35 patients with atherosclerotic cardiovascular disease (ASCVD), including 29 adults and 6 children. Only 6 pediatric patients achieved their low-density lipoprotein cholesterol (LDL-C) treatment targets, and all 54 adult patients did not achieve it. The most commonly used treatment method was diet control with lipid-lowering drugs (16.67%), followed by diet control and lipid-lowering drugs using separately (16.67%). The proportion of patients whose annual personal income reached GDP per capita in 2019 was only 2.5%. The total economic burden of disease was 5,529,100 CNY / year, including direct medical costs of 3,427,200 CNY / year, direct non-medical costs of 1,504,500 CNY / year and indirect costs of 611,300 CNY / year; the per capita economic burden of disease was 46,100 CNY / year, including direct medical costs of 28,600 CNY / year, direct non-medical costs of 12,500 CNY / year and indirect costs of 5,100 CNY / year. There were 32 families with CHE due to the disease, accounting for 26.67%.Conclusion: Patients with HoFH in China are generally at young age, and the economic burden of disease for the family is heavy. The existing treatment is not effective, and it is easy to cause premature death due to ASCVD.

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey

Background Homozygous familial hypercholesterolemia (HoFH) is a rare life-threatening condition that represents a therapeutic challenge. The vast majority of HoFH patients fail to achieve LDL-C targets when treated with the standard protocol, which associates maximally tolerated dose of lipid-lowering medications with lipoprotein apheresis (LA). Lomitapide is an emerging therapy in HoFH, but its place in the treatment algorithm is disputed because a comparison of its long-term efficacy versus LA in reducing LDL-C burden is not available. We assessed changes in long-term LDL-C burden and goals achievement in two independent HoFH patients’ cohorts, one treated with lomitapide in Italy (n = 30) and the other with LA in France (n = 29). Results The two cohorts differed significantly for genotype (p = 0.004), baseline lipid profile (p < 0.001), age of treatment initiation (p < 0.001), occurrence of cardiovascular disease (p = 0.003) as well as follow-up duration (p < 0.001). The adjunct of lomitapide to conventional lipid-lowering therapies determined an additional 58.0% reduction of last visit LDL-C levels, compared to 37.1% when LA was added (padj = 0.004). Yearly on-treatment LDL-C < 70 mg/dl and < 55 mg/dl goals were only achieved in 45.5% and 13.5% of HoFH patients treated with lomitapide. The long-term exposure to LDL-C burden was found to be higher in LA than in Lomitapide cohort (13,236.1 ± 5492.1 vs. 11,656.6 ± 4730.9 mg/dL-year respectively, padj = 0.002). A trend towards fewer total cardiovascular events was observed in the Lomitapide than in the LA cohort. Conclusions In comparison with LA, lomitapide appears to provide a better control of LDL-C in HoFH. Further studies are needed to confirm this data and establish whether this translates into a reduction of cardiovascular risk.