Identifying suspected familial chylomicronemia syndrome.

Familial chylomicronemia syndrome (FCS) is a rare lipid disorder posing significant clinical burdens on patients. Due to its rarity, variety of presentations, and lack of universal diagnostic criteria, patients see an average of five physicians before diagnosis. We screened adults for a triglyceride level ≥1000 mg/dL from September 2015 to September 2016 and a history of pancreatitis and performed a thorough chart review on those who met the criteria. An adjudication panel used a definition that also called for supportive information including history of hypertriglyceridemia or family history of pancreatitis/hypertriglyceridemia. Among 297,891 adults with laboratory values available, 334 (0.11%) had triglyceride levels ≥1000 mg/dL, and 30 (9%) of those had pancreatitis. Most of these 30 patients were male (73%), had diabetes (90%), were taking a fibrate (93%), and were taking a statin (80%). The average body mass index was 32.5 ± 4.5 kg/m2. Six cases were ruled out, primarily due to substance abuse and/or isolated pancreatitis. Of the 24 suspected FCS cases, the average maximum triglyceride level was 3085 ± 1211 mg/dL. Electronic screening methods based solely on triglycerides ≥1000 mg/dL and pancreatitis eliminated 99.99% of the population, enabling the adjudication panel to focus on 30 cases. In 24 cases, FCS could not be ruled out; hence, the prevalence of FCS may be as high as 1 in 12,413.