The Burden of Illness in Patients with Familial Chylomicronemia Syndrome (FCS) in the United Kingdom
Abstract Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder associated with a deficiency in lipoprotein lipase activity, which is characterized by severe hypertriglyceridemia, recurrent abdominal pain and episodes of acute pancreatitis. Investigation of Findings and Observations Captured in Burden of Illness Survey in FCS Patients (IN-FOCUS) assessed the impact of FCS on patient quality of life (QoL) and quantified the burden of illness attributable to FCS for 166 patients in 10 countries. Given the lack of data to support value-based treatment of FCS in the United Kingdom (UK), a prespecified sub analysis of respondents from the UK was performed to evaluate country-specific experiences for patients with FCS and any associated outcomes. Methods: A web-based survey captured information on diagnostic experience, symptoms, comorbidities, disease management, and impact on multiple life dimensions from adults living with FCS. Results: Twenty respondents from the UK completed the survey. Three-quarters indicated that FCS limits their life and significant time and energy is required to manage their FCS. Respondents reported moderate physical symptoms 1–3 times every 2 weeks, all respondents reported worrying about their FCS getting worse with age and 85% worrying about the long-term impact of FCS on their health. Only 3 respondents (15%) reported working full-time,53% of respondents reported that their diminished employment was largely or entirely due to FCS. Furthermore, 90% of respondents reported restricting their dietary fat consumption to an extreme degree and 75% reported using fasting to help manage the symptoms of FCS, suggesting a level of overcompensation. Only one of five women reported a pregnancy. The UK data was largely consistent with the overall study, except for an increased prevalence of worry and differences in disease management. Conclusions: FCS is associated with an ongoing physical and emotional burden that negatively impacts QoL for patients in the UK. Attempts to self-manage FCS may increase the burden of disease. Results from the UK sub analysis are consistent with the overall cohort of IN-FOCUS in suggesting that increased disease awareness and improved management strategies for FCS are required.