Familial chylomicronemia syndrome imposes a severe clinical and psychosocial burden, with 40% of patients hospitalized in the past year and 94% reporting an impact on employment status.
Cross-Sectional (n=166)
Yes
Familial chylomicronemia syndrome imposes a severe clinical and psychosocial burden, characterized by delayed diagnosis, frequent hospitalizations for acute pancreatitis, and significant negative impacts on employment and quality of life.
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by a deficiency of lipoprotein lipase leading to extreme hypertriglyceridemia. Patients' burden of illness and quality of life have been poorly addressed in the literature. OBJECTIVE: To understand the ways in which FCS impacts patients' lives. METHODS: Investigation of Findings and Observations Captured in Burden of Illness Survey (IN-FOCUS) was a global web-based survey open to patients with FCS. Survey questions captured information on diagnostic experience, symptoms, comorbidities, disease management, and impact on multiple life dimensions. RESULTS: Of 166 patients in 10 countries, 62% were from the United States and 70% were male. Median age at the time of the survey was 33 years, and median age at diagnosis was 9 years. Patients saw a mean of 5 physicians from different specialties before their FCS diagnosis and experienced multiple physical, emotional, and cognitive symptoms on a daily to monthly basis; 40% were admitted to the hospital in the past year. A lifetime mean of 13 episodes occurred in the 40% of patients with FCS-related acute pancreatitis. Most patients (>90%) found managing fat intake to be difficult, and 53% experienced symptoms despite adherence to their diets. FCS impacted employment status (94%), emotional/mental well-being (58%-66%), and social relationships (68%-82%). CONCLUSIONS: Patients with FCS experience significant clinical and psychosocial burdens that reduce their quality of life and limit employment and social interactions. Increased awareness among healthcare professionals of the multifaceted nature of the FCS disease burden may help expedite diagnosis and timely institution of treatment and broaden management considerations.
Davidson et al. (Thu,) conducted a cross-sectional in Familial chylomicronemia syndrome (FCS) (n=166). Familial chylomicronemia syndrome (FCS) was evaluated on Burden of illness and impact on multiple life dimensions. Familial chylomicronemia syndrome imposes a severe clinical and psychosocial burden, with 40% of patients hospitalized in the past year and 94% reporting an impact on employment status.