Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic.

ABSTRACT:

Background

Severe hypertriglyceridemia (HTG) has predominantly multifactorial causes (MCS). Yet a small subset of patients have the monogenetic form (FCS). It remains a challenge to distinguish patients clinically, since decompensated MCS might mimic FCS´s severity. Aim of the current study was to determine clinical criteria that could sufficiently distinguish both forms as well as to apply the FCS score proposed by Moulin and colleagues.

Methods

We retrospectively studied 72 patients who presented with severe HTG in our clinic during a time span of seven years and received genetic testing. We classified genetic variants (ACMG-criteria), followed by genetic categorization into MCS or FCS. Clinical data were gathered from the medical records and the FCS score was calculated f

SUBMITTER: Bardey F 

PROVIDER: S-EPMC11913797 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature