Clinical differentiation and mutation spectrum of chylomicronemia patients in a German outpatient clinic

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.