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


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.


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

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