Familial Chylomicronemia Syndrome | Symptoms and Diagnosis
Familial Chylomicronemia Syndrome
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Symptoms and Diagnosis

In many cases, patients experience symptoms related to FCS for years before they receive a conclusive diagnosis. In addition, tests to measure lipid levels are not generally administered to children.

Those living with FCS can be at risk for severe recurrent abdominal pain and potentially fatal pancreatitis, as well as symptoms that can interfere with daily living, including fatigue, lack of energy (asthenia), impaired cognition, and numbness/tingling. Among all symptoms of FCS, abdominal pain and pancreatitis present the most significant short- and long-term risks to patients.14-16, 34

The Risk of Pancreatitis
Pancreatitis can cause debilitating, life-threatening pain and is often more severe in patients with extremely high triglyceride levels.17 Bouts of pancreatitis typically begin with extreme nausea and vomiting, sweating, and pain in the upper abdomen.18 The pain can radiate to the back and ribcage and has been described by those who experience it and their caretakers as incapacitating,3,19 excruciating,20 intolerable, "like someone stabbing me with a knife,"21 or "like someone took a power drill to the side of your rib cage."14

In a recent study of patients with acute pancreatitis who also had extremely high tryglyceride levels (≥1000 mg/dL)17:
    • 60% required intensive care
    • 50% had pancreatic necrosis as identified via contrast CT-scan findings
    • 48% developed persistent organ failure
    • 8% died
In patients with FCS, episodes of abdominal pain and pancreatitis can be recurrent.2 In one study, 59% of patients with FCS had a history of recurrent abdominal pain without hospitalization and 50% had a history of recurrent pancreatitis (ranging from 2-96 episodes).30

Diagnosis is Important
FCS can be diagnosed when triglyceride levels are deemed to be severe (˃880 mg/dL) and refractory to traditional lipid lowering therapy, there is a history of acute pancreatitis or recurrent abdominal pain without other explainable causes, and there are no secondary causes of high tryglycerides, such as alcohol consumption, uncontrolled diabetes, or use of certain medications known to cause hypertriglyceridemia.31 An accurate diagnosis is crucial to initiating tailored, life-long management specific to FCS and for patients to connect with a supportive community, such as the FCS Foundation.
FCS Symptoms and Diagnosis
Importance of a Correct Diagnosis
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