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 place of work:
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 the journal:
Diab Obez 2021; 21(41): 44-47
Category:
Case studies
Summary
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
Zdroje
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Štítky
Diabetology ObesitologyČlánok vyšiel v časopise
Diabetes and obesity
2021 Číslo 41
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