Subjects with familial and nonfamilial primary HTG were assessed for rare mutations.
In 118 subjects, 29 rare variants were identified; 7/10 novel ones were pathogenic.
We studied LPL, APOA5, LMF1, and GPIHBP1 variants in silico and in vitro.
Less than 20% carry a rare pathogenic mutation in LPL, APOA5, LMF1, or GPIHBP1.
No clinical information associates with a higher frequency of pathogenic mutations.