Familial Chylomicronemia Syndrome (FCS) is a rare autosomal recessive monogenic disease,
with one to two individuals in every million, most often caused by mutations in the
lipoprotein lipase gene. People affected by FCS have abnormal persistence of circulating
chylomicrons following a fasting period of 12 - 14 hours, and therefore fasting concentrations
of triglycerides are above 880 mg/dl. Since acute pancreatitis and cardiovascular
complications can be significantly accelerated, we wish to recommend the importance
of diagnostic vigilance for FCS. We also wish to emphasize the critical role of a
multidisciplinary approach to such a disease; with teamwork done by endocrinologists
together with laboratory physicians, internists, gastroenterologists and cardiologists.
Let's make a difference for our patients!
