119 - Clinical differentiation and mutation spectrum of chylomicronemia patients in a German outpatient clinic. (ID 348)
Abstract
Background and Aims
Severe hypertriglyceridemia (HTG, triglyceride (TG) levels >885 mg/dl) has a prevalence of 1:600. While most cases are multifactorial (multifactorial chylomicronemia syndrome, MCS), a small subset of patients do have the monogenetic familial chylomicronemia syndrome (FCS). So far it remains a challenge to distinguish both forms clinically. Our aim was to characterize our patient's phenotype with respect to MCS and FCS as well as to apply the FCS-score proposed by Moulin and colleagues.
Methods
We studied 90 patients who presented with severe HTG in our clinic during the last seven years and received genetic testing. We classified the identified genetic variants, followed by categorization into HTG, MCS or FCS. Clinical data were gathered from the medical records and the FCS-score was calculated for each patient.
Results
The gene sequencing revealed ten FCS patients (four compound heterozygous and six homozygous). Out of 53 MCS patients seven were heterozygous carriers of a pathogenic variant. Six of the detected variants were novel. The FCS patients showed a significantly higher TG level compared to the MCS group (p<0.05) as well as a significantly higher amount of acute pancreatitis episodes (p<0.05). The FCS-score yielded a sensitivity of 80% and a specificity of 92.5%. The mean score sum was significantly higher in FCS than in MCS patients (p<0.01).
Conclusions
In our cohort we identified several variables that significantly differentiated FCS from MCS. The FCS score performed similar to the original study by Moulin, although 20% of the FCS patients will not be detected correctly when relying on the score only.
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