Table 1 Summary of key clinical, genetic, and functional analysis data for rare biallelic LPL variants in patients with HTG-AP during pregnancy
Biallelic variants | Zygosity | Plasma LPL activity (% of controls) | Age at genetic analysis | Disease history | In vitro LPL activity (% of wild-type) | Reference |
|---|---|---|---|---|---|---|
c.596 C > G (p.Ser199Cys) | Homozygote | 12 | 30 years | Developed severe chylomicronemia and pancreatitis for the first time at 33 weeks of gestation at age 30; had no history of HTG | 6 | [9] |
c.836T > G (p.Leu279Arg) c.862G > A (p.Ala288Thr) | Compound heterozygote | 25 | 37 years | Developed severe pancreatitis with a plasma TG level of 162 mmol/L at 29 weeks of gestation during her first pregnancy; her blood glucose, liver, thyroid, and renal functions were found to be normal; had no personal or family history of hyperlipidemia or pancreatitis | p.Leu279Arg: 0 p.Ala288Thr: 32–36 Co-transfection: 20 | [9] |
c.805G > A (p.Glu269Lys) c.835 C > G (p.Leu279Val) | Compound heterozygote | 17 | 30 years | Hospitalized for severe abdominal pain, vomiting, and nausea during the 20th week of pregnancy; no prior history of significant medical conditions. | Not available | [10] |
c.331G > C (p.Val111Leu) c.809G > A (p.Arg270His) | Compound heterozygote | 35 | 30 years | HTG-AP at 38+ 2 weeks of gestation; had a 6-year history of HTG but no AP history or other diseases | p.Val111Leu: 32.3 p.Arg270His: 4.1 Co-transfection: 20.7 | This study |