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Dyslipidaemia in a boy with recurrent abdominal pain, hypersalivation and decreased lipoprotein lipase activity

  • Metabolic Diseases
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Abstract

An 8-year-old boy with frequently recurring pancreatitis-like abdominal pain, Fredrickson type V dyslipidaemia, and significantly decreased post-heparin plasma lipoprotein lipase (LPL) activity is described. In order to exclude familial LPL deficiency, the complete LPL coding gene sequence was analysed revealing compound heterozygosity for two mutations (Asp9Asn, Ser447Ter) which are not supposed to considerably impair lipolytic enzyme activity. However, until now the combination of both these mutations in one patient has not been observed. In addition to the common symptoms of LPL deficiency, a striking feature of unknown origin was hypersalivation. Treatment including a fat-restricted diet, omega-3 fatty acids, and nicotinic acid led to long symptom-free intervals. Symptoms recurred however when the diet was not strictly adhered to.

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Abbreviations

HDL :

high density lipoprotein

IEF :

isoelectric focusing

LPL :

lipoprotein lipase

VLDL :

very low density lipoprotein

References

  1. Ameis D, Merkel M, Eckerskorn C, Greten H (1994) Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. Eur J Biochem 219(3): 905–914

    PubMed  Google Scholar 

  2. Baginsky ML (1980) Post-heparin lipolytic activity. Methods Enzymol 72: 325–337

    Google Scholar 

  3. Braun JEA, Severson DL (1992) Regulation of the synthesis, processing and translocation of lipoprotein lipase. Biochem J 287: 337–347

    PubMed  Google Scholar 

  4. Brunzell JD (1995) Familial lipoprotein lipase deficiency and other causes of the chylomicronaemia syndrome. In: Scriver CR, Beaudet AL, Sly WS Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1913–1932

    Google Scholar 

  5. Brunzell JD, Miller NE, Alaupovic P, Hilaire RJ, Wang CS, Sarson DL, Bloom SR, Lewis B (1983) Familial chylomicronaemia due to a circulating inhibitor of lipoprotein lipase activity. J Lipid Res 24(1): 12–19

    PubMed  Google Scholar 

  6. Drash AL (1991) Genetic forms of dyslipidaemia in children. Ann N Y Acad Sci 623: 222–238

    PubMed  Google Scholar 

  7. Eckel RH (1989) Lipoprotein lipase —a multifunctional enzyme relevant to common metabolic diseases. N Engl J Med 320: 1060–1068

    PubMed  Google Scholar 

  8. Elbein SC, Yeager C, Kwong LK, Lingam A, Inoue I, Lalouel JM, Wilson DE (1994) Molecular screening of the lipoprotein lipase gene in hypertriglyceridaemic members of familial noninsulin-dependent diabetes mellitus families. J Clin Endocrinol Metab 79(5): 1450–1456

    PubMed  Google Scholar 

  9. Faustinella F, Chang A, Van Biervliet JP, Rosseneu M, Vinaimont N, Smith LC, Chen S-H, Chan L (1991) Catalytic triad residue mutation (Asp156Gly) causing familial lipoprotein lipase deficiency. J Biol Chem 266: 14418–14424

    PubMed  Google Scholar 

  10. Gagné C, Brun LD, Julien P, Moorjani S, Lupien PJ (1989) Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population. Can Med Assoc J 140: 405–411

    Google Scholar 

  11. Gouni I, Oka K, Etienne J, Chan L (1993) Endotoxin-induced hypertriglyceridaemia is mediated by suppression of lipoprotein lipase at a post-transcriptional level. J Lipid Res 34: 139–146

    PubMed  Google Scholar 

  12. Hata A, Robertson M, Emi M, Lalouel JM (1990) Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. Nucleic Acids Res 18: 5407–5411

    PubMed  Google Scholar 

  13. Hayden MR, Kastelein JJ, Funke H, Brunzell JD, Ma Y (1993) Phenotypic variation of mutations in the human lipoprotein-lipase gene. Biochem Soc Trans 21: 506–509

    PubMed  Google Scholar 

  14. Henderson HE, Ma Y, Liu M-S, Clark-Lewis I, Maeder DL, Kastelein JJP, Brunzell JD, Hayden MR (1993) Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region. J Lipid Res 34: 1593–1602

    PubMed  Google Scholar 

  15. Hill JS, Pritchard PH (1990) Improved phenotyping of apolipoprotein E: application to population frequency distribution. Clin Chem 36: 1871–1874

    PubMed  Google Scholar 

  16. Hultman T, Bergh S, Moks T, Uhlen M (1991) Bidirectional solid phase sequencing of in vitro amplified plasmid DNA. Bio Techniques 10: 84–93

    Google Scholar 

  17. Klör HU (1990) Das Chylomikronämie-Syndrom — Pathophysiologie, Klinik und Therapie. Klin Wochenschr 68[Suppl XXII]: 68–75

    PubMed  Google Scholar 

  18. Kobayashi J, Nishida T, Ameis D, Stahnke G, Schotz MC, Hashimoto H, Fukamachi I, Shirai K, Saito Y, Yoshida S (1992) A heterozygote mutation (the codon for Ser447→ a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia. Biochem Biophys Res Commun 182: 70–77

    PubMed  Google Scholar 

  19. Kozaki K, Gotoda T, Kawamura M, Shimano H, Yazaki Y, Ouchi Y, Orimo H, Yamada N (1993) Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation. J Lipid Res 34: 1765–1772

    PubMed  Google Scholar 

  20. Lalouel J-M, Wilson DE, Iverius P-H (1992) Lipoprotein lipase and hepatic triglyceride lipase: molecular and genetic aspects. Curr Op Lipid 3: 86–95

    Google Scholar 

  21. Lohse P, Lohse P, Beg O, Brunzell JD, Santamarina-Fojo S, Brewer HB (1991) Familial chylomicronaemia: identification of a unique patient homozygote for two separate mutations in the LPL gene [Abstract]. Aeteriosclerosis Thromb 11: 1415a

    Google Scholar 

  22. Ma Y, Henderson HE, Ven Murthy MR, Roederer G, Monsalve MV, Clarke LA, Normand T, Julien P, Gagné C, Lambert M, Davignon J, Lupien PJ Brunzell J, Hayden MR (1991) A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronaemia in French Canadians. N Engl J Med 324: 1761–1766

    PubMed  Google Scholar 

  23. Mailly F, Tugrul Y, Reymer PWA, Bruin T, Seed M, Groenemeyer BF, Asplund-Carlson A, Ballance D, Winder AF, Miller GF, Kastelein JJP, Hamsten A, Olivecrona G, Humphries SE, Talmud P (1995) A common variant in the gene for lipoprotein lipase (Asp9Asn): Functional implications and prevalence in normal and hyperlipidaemic subjects. Arteroscler Thromb 15(4): 468–478

    Google Scholar 

  24. Minnich A, Kessling A, Roy M, Giry C, DeLangavant G, Lavigne J, Lussier-Cacan S, Davignon J (1995) Prevalence of alleles encoding defective lipoprotein lipase in hyper-triglyceridemic patients of French Canadian descent. J Lipid Res 36(1): 117–124

    PubMed  Google Scholar 

  25. Normand T, Bergeron J, Fernandez-Margallo T, Bharucha A, Ven Murthy MR, Julien P, Gagné C, Dionne C, De Braekeleer M, Ma R, Hayden MR (1992) Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec. Hum Genet 89: 671–675

    PubMed  Google Scholar 

  26. Stocks J, Thorn JA, Galton DJ (1992) Lipoprotein lipase genotypes for a common premature termination codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion. J Lipid Res 33: 853–857

    PubMed  Google Scholar 

  27. Wiebusch H, Nofer JR, Eckardstein A von, Funke H, Wahrburg U, Martin H, Köhler E, Assmann G (1995) Electrophoretic screening for human apolipoprotein C-II variants: Repeated identification of apo C-II (Lys19Thr) in hypertriglyceridaemic individuals. J Mol Med 73: 373–378

    PubMed  Google Scholar 

  28. Wieland H, Seidel D (1978) Fortschritte in der Analalytik des Lipoproteinmusters. Inn Med 5: 290–300

    Google Scholar 

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Authors and Affiliations

  1. Universitäts-Kinderklinik, Mathildenstrasse 1, D-79106, Freiburg, Germany

    D. Matern, H. Seydewitz, H. Niederhoff & M. Brandis

  2. Institut für Arterioskleroseforschung, Domagkstrasse 3, D-48149, Münster, Germany

    H. Wiebusch

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  1. D. Matern
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  2. H. Seydewitz
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  3. H. Niederhoff
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  4. H. Wiebusch
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  5. M. Brandis
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Matern, D., Seydewitz, H., Niederhoff, H. et al. Dyslipidaemia in a boy with recurrent abdominal pain, hypersalivation and decreased lipoprotein lipase activity. Eur J Pediatr 155, 660–664 (1996). https://doi.org/10.1007/BF01957148

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  • DOI: https://doi.org/10.1007/BF01957148

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