Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

•The LPL gene was sequenced in individuals with severe/moderate hypertriglyceridemia.•Rare LPL variants were found in 33.5% of subjects with severe hypertriglyceridemia.•26 patients were homozygotes, 9 compound heterozygotes and 21 simple heterozygotes.•Thirty six rare LPL variants were identified, 15 of which not reported previously.•Screening of patients' relatives led to the identification of 44 simple heterozygotes.