OBJECTIVES:

Familial Chylomicronemia Syndrome (FCS) is a rare genetic disorder resulting in increased triglyceride levels, which often leads to pancreatitis, fatty deposits on the skin, abdominal pain, fatigue, and impaired cognition. There are no currently approved therapies for FCS, but treatments are in development. As treatments are introduced, cost-utility analyses will be needed to examine their value, and these models will require health state utilities representing FCS. Therefore, the purpose of this study was to estimate utilities for various severity levels of FCS and an associated episode of acute pancreatitis.

METHODS:

In time trade-off interviews, general population participants in the United Kingdom valued five health state vignettes drafted based on literature review, clinician input, and interviews with patients with FCS. Four health states described variations of FCS (high or low triglycerides, with or without history of acute pancreatitis [AP]). The fifth health state, describing an acute pancreatitis episode, was added to one of the other health states to evaluate its impact on utility.

RESULTS:

A total of 208 participants completed interviews (50.0% male; mean age = 45.5y; 105 from London; 103 from Edinburgh). Mean (SD) utilities were 0.80 (0.21) for low triglyceride levels without history of AP, 0.74 (0.23) for low triglycerides with history of AP, 0.60 (0.33) for high triglycerides without history of AP, and 0.46 (0.42) for high triglycerides with history of AP. The disutility (i.e., utility decrease) of AP was -0.25 when added the low triglyceride health state and -0.20 when added to the high triglyceride health state.

CONCLUSIONS:

Among these FCS health states, symptoms typically linked to higher triglycerides and history of AP were associated with lower utility. The health state utilities estimated in this study would be useful in models examining cost-effectiveness of treatments for FCS.