Erik Stroes1, Philippe Moulin2, Klaus G Parhofer3, Vinciane Rebours4, J-Matthias Löhr5, Maurizio Averna6. 1. Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands. 2. Fédération d'Endocrinologie Diabétologie Maladies Métaboliques, Nutrition, Hôpital Cardiovasculaire Louis Pradel, Lyon, France. 3. Medizinische Klinik II - Grosshadern, Klinikum der Universität München, Munich, Germany. 4. Pancreatology Department, INSERM UMR1149, DHU UNITY, Beaujon Hospital, Clichy, France. 5. CLINTEC, Karolinska Institutet and Department of Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden. 6. Centro regionale delle malattie rare del metabolismo dell'adulto (CERMMET) Policlinico "P. Giaccone", Palermo, Italy; Department of Biomedicine, Internal Medicine and Medical Specialties, DI.BI.MIS School of Medicine, University of Palermo, Palermo, Italy. Electronic address: maurizio.averna@unipa.it.
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.
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.
Authors: Anna Wolska; Richard L Dunbar; Lita A Freeman; Masako Ueda; Marcelo J Amar; Denis O Sviridov; Alan T Remaley Journal: Atherosclerosis Date: 2017-10-20 Impact factor: 5.162