Familial chylomicronemia syndrome (FCS) is an ultra-rare disorder associated with pathogenic variants in genes implicated in chylomicron metabolism such as LPL, APOA5, APOC2, GPIHBP1, and LMF1. Patien Show more
Familial chylomicronemia syndrome (FCS) is an ultra-rare disorder associated with pathogenic variants in genes implicated in chylomicron metabolism such as LPL, APOA5, APOC2, GPIHBP1, and LMF1. Patients with FCS have severe hypertriglyceridemia complicated with recurrent episodes of pancreatitis. Volanesorsen is a treatment option for such patients. However, this treatment is not approved or available in all countries. To present the real-life evidence of clinical response to volanesorsen in patients with FCS in Colombia. All patients treated with volanesorsen in Colombia as of June 25, 2024, were included. After informed consent, relevant clinical and laboratory data were obtained through review of clinical charts and records from the volanesorsen patient support program. Ten patients with FCS and treated with volanesorsen were included. Most cases were caused by variants in LPL. A total of 90% of cases had at least 1 episode of pancreatis, the mean number of pancreatitis episodes was 5. Median follow-up was 56.5 weeks (IQR 38.3-82.3). The median highest plasma triglyceride (TG) level before treatment was 3111 mg/dL (IQR 1738-3810), while the median lowest TG level after treatment was 493 mg/dL (IQR 147-812). The mean percent decreases in plasma TG at months 1, 3, 6, and 12 were 53.6%, 59.7%, 51.5%, and 40.5%, respectively. There were no new pancreatitis episodes after initiation of volanesorsen treatment. Side effects were consistent with those reported in clinical trials. Real-life data of volanesorsen treatment for FCS in Colombia demonstrate efficacy and safety similar to pivotal clinical trials. Show less
Familial chylomicronemia syndrome (FCS) is an autosomal recessive disorder that affects approximately 1 to 10 individuals per million and is caused by variants in the genes encoding for the lipoprotei Show more
Familial chylomicronemia syndrome (FCS) is an autosomal recessive disorder that affects approximately 1 to 10 individuals per million and is caused by variants in the genes encoding for the lipoprotein lipase (LPL) enzyme. In addition to its heterogeneous clinical presentation, FCS is characterized by a higher risk of life-threatening, recurrent acute pancreatitis and type 3 diabetes. Since available evidence on FCS in Latin America is limited, there is a clear need for a consensus document that provides relevant recommendations to guide the management of suspected cases and optimize disease diagnosis across the region. A panel of specialists from Latin America with extensive experience in the diagnosis of chylomicronemia was invited to participate in the creation of this document. The modified Delphi technique was used to reach group consensus through multiple rounds of questionnaires using statistical techniques and controlled feedback. Results and discussion: Seventeen recommendations on diagnosis of FCS were generated. This consensus reflects the collaborative efforts of Latin American scientific societies and is essential to suspect and diagnose FCS. The organizations that support this document, including Sociedad Argentina de Lípidos, Federación Argentina de Sociedades de Endocrinología, Fundación Bioquímica Argentina, Corporación Grupo Chileno de Trabajo en Ateroesclerosis, Asociación Colombiana de Endocrinología, Diabetes y Metabolismo, Departamento de Aterosclerose da Sociedade Brasileira de Cardiología, and Sociedad Mexicana de Nutrición y Endocrinología, are a robust support network that might aid the adoption of these recommendations in local healthcare systems. Show less