Familial chylomicronemia syndrome (FCS)
What is FCS?
FCS is a rare, inherited metabolic disorder that prevents the body from breaking down fats. People with FCS can become ill from eating even small amounts of fat.
What causes FCS?
FCS is a rare, genetic disorder that is inherited from affected individuals and passed down through a family. This disorder affects approximately 1 in 1 million people worldwide, however, certain areas, like Eastern Quebec, have a higher prevalence of FCS due to the founder effect – decreased genetic variability among a new population.
FCS is caused by a genetic mutation that causes lipoprotein lipase (LPL), a protein responsible for breaking down fats, to be damaged or missing. As a result, the body cannot digest fats properly, causing fat particles called chylomicrons to build up in the blood. If left untreated, the excess chylomicrons may lead to episodes of pancreatitis.
What are the signs and symptoms?
Triglycerides (TGs) are a type of fat, or lipid, normally found in our bodies. A distinctive sign of FCS is extremely high fasting TG levels and blood that appears fatty, or milky, after it is drawn. As a result of elevated TGs, patients often have severe stomach pain and may also experience lower back pain.
Because of sustained high TG levels, patients with FCS are also at risk of developing potentially life-threatening pancreatitis – an inflammation of the pancreas. Additionally, patients may experience vomiting and diarrhea.
Due to extremely high levels of TGs, the most common symptoms reported by FCS patients are:
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