Familial chylomicronemia – pathogenesis, clinical manifestations and a case report


Authors: Katarína Rašlová 1;  Alexander Klabník 2;  Miroslava Hučková 3;  Daniela Gašperíková 3;  Anna Maňková 4;  Michal Vrablík 5;  Richard Češka 5;  Daniela Balažiová 3
Authors‘ workplace: Koordinačné centrum pre FHLP, SZU, Bratislava 1;  Kardiologická ambulancia a MedPed centrum, Námestovo 2;  Biomedicínske centrum SAV, Bratislava 3;  I. interná klinika JLF UK a UNM, Martin 4;  III. interní klinika – klinika endokrinologie a metabolismu 1. LF UK a VFN v Praze 5
Published in: Diab Obez 2021; 21(41): 44-47
Category:

Overview

Familial chylomicronemia (Familial chylomicronemia syndrome – FCS) is an autosomal recessive inherited meta­bolic disorder which causes mutations in the genes which have a central role in lipolysis of triglyceride-rich lipo­proteíns. A characteristic manifestation of FCS is the presence of chylomicrons in plasma also after 12- hour fasting. The most common cause of this disorder are mutations in the lipoprotein lipase (LPL) gene that are found in more than 80% patients. This form of FCS is also called lipoprotein lipase deficiency (LPLD). Incidence of FCS in the population is reported to be 1–2 per 1 million. Nonetheless the progress in DNA diagnostics suggests that the incidence may be higher. A patient whose case we present has overcome recurrent acute pancreatitis 9 times. It was only her 2nd pregnancy which was free from perinatal complications and ended by birth of a healthy boy. The success is the result of intensive multidisciplinary care, consistent diet planning and educa­tion and the right decision to commence the plasmapheresis treatment in the 3rd trimester of pregnancy.

Keywords:

chylomicron – familial chylomicronemia syndrome – lipoprotein lipase deficiency – lipoprotein lipase gen – plasmapheresis


Sources
  1. Rašlová K. Metabolizmus lipoproteínov, dyslipoproteinémie a ateroskleróza. In: Mokáň M, Martinka E, Galajda P (eds). Diabetes mellitus a vybrané metabolické ochorenia. Vydavateľstvo P + M: Turany 2008: 768–825. ISBN 9788096971398.
  2. Stroes E, Moulin P, Parhofer KG et al. Diagnostic algorithm for familial chylomicronemia syndrome. Atheroscler Suppl 2017; 23: 1–7. Dostupné z DOI: <http://dx.doi.org/10.1016/j.atherosclerosissup.2016.10.002>.
  3. Rodrigues R, Artieda M, Tejedor D. Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency. J Clin Lipidol 2016; 10(2): 394–409. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jacl.2015.12.015>.
  4. Brown WV, Gaudet D, Goldberg I et al. Roundtable on etiology of familial chylomicronemia syndrome. J Clin Lipidol 2018; 12(1): 5–11. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jacl.2017.12.015>.
  5. Lloret-Linares C, Pelletier AL, Czernichow S et al. Acute pancreatitis in a cohort of 129 patients referred for severe hypertriglyceridemia. Pancreas 2008; 37(1): 13–22. Dostupné z DOI: <http://dx.doi.org/10.1097/MPA.0b013e31816074a1>.
  6. Wong B, Ooi TC, Keely E. Severe gestational hypertriglyceridemia: A practical approach for clinicians. Obstet Med 2015; 8(4): 158–167. Dostupné z DOI: <http://dx.doi.org/10.1177/1753495X15594082>.
  7. Steinhagen-Thiessen E , Stroes E, Soran H , Johnson C et al. [GENIALL Investigators]. The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency. Atherosclerosis 2017; 262: 146–153. Dostupné z DOI: <http://dx.doi.org/10.1016/j.atherosclerosis.2016.08.023>.
  8. Brahm AJ, Hegele RA. Chylomicronaemia: current diagnosis and future therapies. Nat Rev Endocrinol 2015;11(6): 352–362. Dostupné z DOI: <http://dx.doi.org/10.1038/nrendo.2015.26>.
  9. Goldberg AS, Hegele RA. Severe hypertriglyceridemia in pregnancy. J Clin Endocrinol Metab 2012; 97(8): 2589–2596. Dostupné z DOI: <http://dx.doi.org/10.1210/jc.2012–1250>.
  10. Lim R, Rodger SJ, Hawkins TL. Presentation and management of acute hypertriglyceridemic pancreatitis in pregnancy: A case report. Obstet Med 2015; 8(4):200–203. Dostupné z DOI: <http://dx.doi.org/10.1177/1753495X15605697>.
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