title: Hypertriglyceridemia and pancreatitis in a patient with apolipoprotein E7 (p.[E244K; E245K])/E4.
abstract: BACKGROUND
  The etiology of hypertriglyceridemia is complex and one of the common variants in affecting plasma lipid levels is apolipoprotein (apo) E isoform. Scores of apo E variants have been reported, including apo E7. However, a clinical lipid phenotype of apo E7 has not been fully elucidated.
  
  
  METHODS
  A 48-year-old Japanese male had hypertriglyceridemia and a history of repeated episodes of acute pancreatitis. The measurement of serum apolipoproteins and apo E phenotyping, and the sequencing analyses of several genes regulating triglyceride metabolism were performed in the patient.
  
  
  RESULTS
  The apo E phenotype of the patient was E7/E4. Apo E7 had the same point mutations p.[E244K; E245K] in APOE as reported previously. In addition, he had APOA5 haplotypes associated with hypertriglyceridemia. Laboratory examinations excluded deficiency of apolipoproteins, lipoprotein lipase, and GPI-HBP1 in this patient.
  
  
  CONCLUSIONS
  This is, to our knowledge, the first report of severe hypertriglyceridemia and acute pancreatitis in a patient with apo E7.
authors.affiliation: Department of Endocrinology and Metabolism, Toranomon Hospital, Tokyo, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Arai
authors.affiliation: Department of Endocrinology and Metabolism, Toranomon Hospital, Tokyo, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Nishimura
authors.affiliation: Department of Endocrinology and Metabolism, Toranomon Hospital, Tokyo, Japan.
authors.forename: Yasumichi
authors.initials: Y
authors.lastname: Mori
authors.affiliation: Okinaka Memorial Institute for Medical Research, Tokyo, Japan.
authors.forename: Tetsu
authors.initials: T
authors.lastname: Ebara
authors.affiliation: Department of Endocrinology and Metabolism, Toranomon Hospital, Tokyo, Japan; Okinaka Memorial Institute for Medical Research, Tokyo, Japan. Electronic address: QFG00550@nifty.com.
authors.forename: Minoru
authors.initials: M
authors.lastname: Okubo
mesh_terms: D000208:Acute Disease; D000328:Adult; D001057:Apolipoproteins E / Q000235:genetics*; D001483:Base Sequence; D006801:Humans; D015228:Hypertriglyceridemia / Q000150:complications* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010195:Pancreatitis / Q000150:complications* / Q000235:genetics*; D010641:Phenotype; D020033:Protein Isoforms / Q000235:genetics; D017421:Sequence Analysis
chemical_list: D001057:Apolipoproteins E; D020033:Protein Isoforms
keywords: Apolipoprotein A-V; Apolipoprotein E7; Hypertriglyceridemia; Pancreatitis; Variant