title: A Chinese patient with recurrent pancreatitis during pregnancy induced by hypertriglyceridemia associated with compound heterozygosity (Glu242Lys and Leu252VaL) in the lipoprotein lipase gene.
abstract: We herein report a novel compound heterozygote of Glu242Lys and Leu252Val in a Chinese patient, characterized by recurrent hypertriglyceridemia-induced acute pancreatitis caused by lipoprotein lipase deficiency. The proband's LPL level after injection of heparin was measured at 184 U/L, considerably lower than the normal controls (382 U/L). Furthermore, LPL activity in the proband was 16.7% of the normal controls. However, the hepatic lipase activity was 80% of the normal controls. These results indicated that the compound mutation was associated with hypertriglyceridemia due to both LPL deficiency and defective LPL function. The LPL deficiency was partially compensated by the roughly normal hepatic lipase, resulting in the apparent normal phenotype of the proband until pregnancy.
authors.affiliation: Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Lun
authors.affiliation: Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, China.
authors.forename: Wenshan
authors.initials: W
authors.lastname: Lv
authors.affiliation: Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, China. Electronic address: jacob72hou@yahoo.com.
authors.forename: Xu
authors.initials: X
authors.lastname: Hou
authors.affiliation: Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, China. Electronic address: wangyangang1@126.com.
authors.forename: Yangang
authors.initials: Y
authors.lastname: Wang
mesh_terms: D000328:Adult; D001483:Base Sequence; D005260:Female; D006579:Heterozygote; D006801:Humans; D015228:Hypertriglyceridemia / Q000150:complications*; D008071:Lipoprotein Lipase / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010195:Pancreatitis / Q000201:enzymology / Q000209:etiology* / Q000235:genetics*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000201:enzymology / Q000209:etiology* / Q000235:genetics*; D012008:Recurrence
chemical_list: D008071:Lipoprotein Lipase
keywords: Acute pancreatitis; Compound heterozygosity; Hypertriglyceridemia; Lipoprotein lipase; Mutation