title: Combination of circulating antilipoprotein lipase (Anti-LPL) antibody and heterozygous S172 fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia.
abstract: BACKGROUND
  Sporadic hyperchylomicronemia (type V hyperlipoproteinemia) results from complex interactions between genetic and environmental factors that often remain unknown.
  
  
  METHODS
  Upon investigation of a patient suffering from recurrent hypertriglyceridemic pancreatitis without family history or conventional secondary cause of dyslipidemia, we identified a previously unreported nonsense heterozygous lipoprotein lipase (LPL) gene mutation S172fsX179 associated with an antihuman LPL IgG.
  
  
  RESULTS
  This autoantibody partially inhibited wild-type LPL activity in vitro. Furthermore, the patient's plasma triglyceride concentrations were efficiently decreased under immunosuppressive treatment, and this was confirmed by sequential withdrawal/reintroduction tests.
  
  
  CONCLUSIONS
  We consider that this unique combination of a genetic defect and an autoimmune disease results in chronic major hypertriglyceridemia. Because immunosuppressive treatment can improve this dyslipidemia, assessment of anti-LPL autoantibody is worthwhile in unmanageable chronic major hypertriglyceridemia, even in the presence of a heterozygous LPL deficiency.
authors.affiliation: Unité Mixte de Recherche 585 Institut National de la Santé et de la Recherche Médicale/Institut National des Sciences Appliquées, Bâtiment Louis Pasteur, 20 avenue Albert Einstein, 69621 Villeurbanne cedex, France. valerie.pruneta-deloche@insa-lyon.fr
authors.forename: Valérie
authors.initials: V
authors.lastname: Pruneta-Deloche
authors.forename: Christophe
authors.initials: C
authors.lastname: Marçais
authors.forename: Laurence
authors.initials: L
authors.lastname: Perrot
authors.forename: Agnès
authors.initials: A
authors.lastname: Sassolas
authors.forename: Mireille
authors.initials: M
authors.lastname: Delay
authors.forename: Bruno
authors.initials: B
authors.lastname: Estour
authors.forename: Michel
authors.initials: M
authors.lastname: Lagarde
authors.forename: Philippe
authors.initials: P
authors.lastname: Moulin
mesh_terms: D001323:Autoantibodies / Q000097:blood*; D002908:Chronic Disease; D002914:Chylomicrons / Q000097:blood*; D006579:Heterozygote; D006801:Humans; D006949:Hyperlipidemias / Q000209:etiology; D008071:Lipoprotein Lipase / Q000037:antagonists & inhibitors / Q000235:genetics* / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D001323:Autoantibodies; D002914:Chylomicrons; D008071:Lipoprotein Lipase