Summary
BACKGROUND: Familial chylomicronemia syndrome (FCS) is an ultrarare inherited disorder. Genetic testing is not always feasible or conclusive. European clinicians developed a "FCS score" to differentiate between FCS and multifactorial chylomicronemia syndrome (MCS), a more common condition with overlapping features. A diagnostic score has not been developed for use in the North American (NA) context. OBJECTIVE: To develop and validate a diagnostic score for NA patients based on signs, symptoms and biochemical traits of FCS. METHODS: Using the RAND/UCLA modified Delphi process, we convened 10 US/Canadian physicians with experience recognizing and treating FCS and 1 adult patient with FCS. The panel developed and rated 296 scenarios describing patients with FCS. Linear regression analyses use
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