THE PREVALENCE OF PROBABLE FAMILIAL CHYLOMICRONEMIA SYNDROME IN A SOUTHERN CALIFORNIA POPULATION
Background: Familial Chylomicronemia Syndrome (FCS) is a rare genetic disorder characterized by severe hypertriglyceridemia with inadequate response to lipid lowering agents or low-fat diet. The diagnosis of FCS is often missed due to the heterogeneity of its clinical features. Due to lack of awareness, most FCS cases are misdiagnosed or detected too late resulting in complications. Objective: Our goal is to estimate the prevalence of probable FCS in a major Southern California Academic Center, as well as to provide a systematic review of past FCS studies and management recommendations. Methods: Electronic medical records were queried based on a single fasting plasma triglyceride (TG) values of ≥ 880 mg/dL and at least one episode of acute pancreatitis. After exclusion of secondary causes (diabetes, alcohol use, gall bladder disease, chronic kidney disease, uncontrolled hypothyroidism, estrogen, drug use) and response to lipid lowering treatment, probable FCS patients were identified. A systematic review of all published literature on the prevalence and management guidelines for FCS was then presented and discussed. Results: Out of 7,699,288 charts queried, 138 patients with TG levels of ≥880 mg/dL and documented evidence of at least one episode of acute pancreatitis were identified. Nine patients did not have any documented secondary causes of chylomicronemia. Four of the 9 patients had a greater than 20% decrease in TG levels after lipid lowering treatment, 2 patients were not responsive to lipid lowering medication, and data on lipid lowering medications was missing in 3 patients. Conclusions: Our study estimates the prevalence of probable FCS at a range of 0.26 to 0.66 per million. Using the recommended above criteria, probable FCS cases can be identified to allow early diagnosis and management. Abbreviations: FCS = Familial Chylomicronemia Syndrome; MCS = Multifactorial Chylomicronemia Syndrome; CS = Chylomicronemia Syndrome; HTG = Hypertriglyceridemia; TG = Triglyceride; LPL = Lipoprotein Lipase; EMR = Electronic Medical Records.