Aim: 
To understand the management of familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS) and to identify the occurrence of complications.

Methods:
30 FCS and 124 MCS patients, with genetic documentation, and followed between 2006 and 2016 in France, were identified in hospital records. Individual hospital data were linked to the national claims data (SNDS, health care utilization). Disease management and occurrence of complications were described during a median follow-up time of 9.8 years.

Results :
Mean age was higher in the MCS group (45.0 ± 12.4 years) than in the FCS group (34.1 ± 13.3 years, p <0.0001). The sex ratio was towards females in the FCS group (0.67), while it was towards males in the MCS group (2.1) (p=0.049). During the study period, 50.0% of FCS patients had ≥1 acute pancreatitis, compared with 20.2% in the MCS group (p<0.0001). In addition, the mean number of hospitalizations for acute pancreatitis was 9.3 in the FCS group, compared to 2.1 in the MCS group (p<0.0001). By contrast, hospitalizations for cardiovascular conditions were more frequent in MCS than in FCS patients (25.0% versus 6.7%, p=0.03).


  
Figure 1: Incidence of acute pancreatitis in FCS and MCS patients


Conclusions:
The incidence of acute pancreatitis was higher in FCS than in MCS patients. The incidence of ischemic cardiovascular conditions was higher in MCS. These data illustrate the severity of these two orphan conditions (prevalence of about 2/106 for FCS and 1/104 for MCS).

02 - IDENTIFICATION OF MEDICAL COMPLICATIONS AND REAL-LIFE CARE OF FAMILIAL AND MULTIFACTORIAL CHYLOMICRONAEMIA SYNDROMES: THE ESTHYM STUDY