title: [Familial hyperchylomicronemia with a new mutation of the lipoprotein lipase gene].
abstract: BACKGROUND
  Familial hyperchylomicronemia is a rare autosomal recessive disease caused by lipoprotein lipase deficiency.
  
  
  METHODS
  A nine month-old girl presented with eruptive xanthomas revealing a familial hyperchylomicronemia. No lipoprotein lipase activity was found. DNA analysis revealed a novel homozygous non-sense mutation of the lipoprotein lipase gene at the codon 288. The parents were heterozygous carriers.
  
  
  CONCLUSIONS
  Familial hyperchylomicronemia usually presents with eruptiva xanthomas, abdominal pain, pancreatic manifestation and lipemia retinalis. Papulo-nodular xanthomas occur more frequently in children as in our case. Eighty lipoprotein lipase gene mutations have been recorded to date. The gene locates on chromosome 8. Only 9 non-sense mutations have been described which lead to a truncated protein. In our case, no enzymatic activity was detected probably due to an absence of secretion of the enzyme, even though catalytic activity persisted. The homozygous carrier status leads to hyperchylomicronemia whereas the heterozygote status may lead to mixed hyperlipidemia with an increased risk of atherosclerosis. The screening of lipoprotein lipase gene mutations should be carried out in all families with hyperchylomicronemia, regardless of the presence or absence of xanthomas.
authors.affiliation: Service de Dermatologie, Pavillon R, Hôpital E. Herriot, 5, place d'Arsonval, 69437 Lyon.
authors.forename: A S
authors.initials: AS
authors.lastname: Causeret
authors.forename: A L
authors.initials: AL
authors.lastname: Souillet
authors.forename: C
authors.initials: C
authors.lastname: Marcais
authors.forename: V
authors.initials: V
authors.lastname: Prunetta
authors.forename: A
authors.initials: A
authors.lastname: Lachaux
authors.forename: M
authors.initials: M
authors.lastname: Faure
authors.forename: A
authors.initials: A
authors.lastname: Claudy
mesh_terms: D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8; D002914:Chylomicrons / Q000097:blood; D018389:Codon, Nonsense / Q000235:genetics*; D003241:Consanguinity; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000235:genetics*; D007223:Infant; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000235:genetics*; D008074:Lipoproteins / Q000097:blood; D018807:Polymorphism, Single-Stranded Conformational; D015223:Wolman Disease / Q000235:genetics
chemical_list: D002914:Chylomicrons; D018389:Codon, Nonsense; D008074:Lipoproteins; D008071:Lipoprotein Lipase