Familial chylomicronemia: pathogenesis, clinical manifestations and case study

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 lipoproteins. A characteristic manifestation of FCS is the presence of chylomicrons (CH) 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 third trimester of pregnancy.

Key words:

familial chylomicronemia, lipolysis of triglyceride-rich lipoproteins