title: Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population.
abstract: We examined 56 French Canadians, aged 1 week to 54 years, from eastern Quebec who were referred to the Laval University Lipid Research Centre and in whom coincidental finding (in 46% of the cases), abdominal pain (in 32%) or family screening (in 22%) led to the diagnosis of primary lipoprotein-lipase-activity deficiency (familial hyperchylomicronemia). Half of the patients had one or more of the following signs: lipemia retinalis, eruptive xanthomas, splenomegaly and hepatomegaly; the plasma triglyceride concentrations were significantly higher (greater than 40 mmol/L) among these patients than among those without clinical signs (mean 21.7 [standard deviation 13.5] mmol/L). The prevalence rate of this disorder was 30 times higher than the previously published rate and was highest in the counties of Charlevoix and Saguenay-Lac-St-Jean (200 and 100 cases per million respectively) because of the distinct demographic history of these areas. Because of a founder effect an autosomal recessive gene involved in lipoprotein-lipase expression or activation has probably been disseminated among this isolated French Canadian population.
authors.affiliation: Department of Medicine, Centre hospitalier de l'université Laval, Ste-Foy, PQ.
authors.forename: C
authors.initials: C
authors.lastname: Gagné
authors.forename: L D
authors.initials: LD
authors.lastname: Brun
authors.forename: P
authors.initials: P
authors.lastname: Julien
authors.forename: S
authors.initials: S
authors.lastname: Moorjani
authors.forename: P J
authors.initials: PJ
authors.lastname: Lupien
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005602:France / Q000208:ethnology; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000208:ethnology / Q000235:genetics; D006951:Hyperlipoproteinemias / Q000208:ethnology / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011792:Quebec; D014280:Triglycerides / Q000097:blood
chemical_list: D014280:Triglycerides