title: Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.
abstract: BACKGROUND
  Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder caused by LPL gene mutation and is characterized by severe hyperchylomicronemia. Patients with LPL deficiency suffer from the frequent recurrence of acute pancreatitis, but the underlying mechanisms are not fully understood.
  
  
  METHODS
  A 22-yr-old male Japanese patient with severe hyperchylomicronemia was admitted to our hospital in 1973. He had no consanguinity and no family history of hyperlipidemia. He was genetically diagnosed as LPL deficiency (homozygous for LPL(Arita)) with no LPL mass or activity in postheparin plasma. He has experienced recurrent acute pancreatitis 22 times during our 31-yr clinical follow-up, but no pancreatic pseudocyst, irregularity of the pancreatic duct, or abnormal pancreatic calcification was observed in computed tomography. Moreover, his pancreatic endocrine function, as assessed by the oral glucose tolerance test, has preserved more than 30 yr. Although he was a current smoker, no clinically significant atherosclerotic lesion had been observed.
  
  
  CONCLUSIONS
  From the long-term observation of this patient, we propose that LPL deficiency is not invariably associated with high mortality and that even with repeated episodes of acute pancreatitis, pancreatic function may be slow to decline.
authors.affiliation: Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Disease, Graduate School of Medical Science, Kanazawa University, 13-1 Takara-machi, Kanazawa, 920-8641, Japan. masaaki@im2.m.kanazawa-u.ac.jp
authors.forename: Masa-aki
authors.initials: MA
authors.lastname: Kawashiri
authors.forename: Toshinori
authors.initials: T
authors.lastname: Higashikata
authors.forename: Mihoko
authors.initials: M
authors.lastname: Mizuno
authors.forename: Mutsuko
authors.initials: M
authors.lastname: Takata
authors.forename: Shoji
authors.initials: S
authors.lastname: Katsuda
authors.forename: Kenji
authors.initials: K
authors.lastname: Miwa
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Nozue
authors.forename: Atsushi
authors.initials: A
authors.lastname: Nohara
authors.forename: Akihiro
authors.initials: A
authors.lastname: Inazu
authors.forename: Junji
authors.initials: J
authors.lastname: Kobayashi
authors.forename: Junji
authors.initials: J
authors.lastname: Koizumi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mabuchi
mesh_terms: D000208:Acute Disease; D000328:Adult; D050197:Atherosclerosis / Q000150:complications* / Q000000981:diagnostic imaging; D005947:Glucose / Q000378:metabolism*; D005951:Glucose Tolerance Test; D006720:Homozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D009154:Mutation; D010195:Pancreatitis / Q000150:complications*; D012008:Recurrence; D014463:Ultrasonography
chemical_list: D008071:Lipoprotein Lipase; D005947:Glucose