Diagnostic algorithm for familial chylomicronemia syndrome

Abstract

Background Familial chylomicronemia syndrome (FCS) is a rare genetic disease that leads to severe hypertriglyceridemia often associated with recurrent episodes of pancreatitis. The recognition and correct diagnosis of the disease is challenging due to its rarity, and to the lack of specificity of signs and symptoms. Lipid experts, endocrinologists, gastroenterologists, pancreatologists, and general practitioners may encounter patients who potentially have FCS. Therefore, cooperation between experts and improved knowledge of FCS is essential in improving the diagnosis. Currently, a consensus on best practice for the diagnosis of FCS is lacking. Methods Aiming to define a diagnostic algorithm for FCS, a board of European experts was instituted. Such an algorithm for FCS is important to guide practitioners in the diagnosis of suspected FCS and to optimize therapeutic strategies. Results The multidisciplinary views were merged, leading to a diagnostic algorithm, proposed here. Conclusion This diagnostic algorithm represents a potentially useful tool to support primary and secondary care practitioners in the recognition of signs and clinical manifestations in individuals potentially affected by FCS.