Familial chylomicronemia syndrome (FCS) is genetic, which means it is always with you. The age at which patients first show symptoms and the types of symptoms they experience may vary. Some people may have noticeable warning signs of FCS when they are young. Others may not feel anything until adulthood.
First signs and symptoms
Sometimes the first clinical sign of FCS is a blood draw that appears “milky.” The first physical symptom may be severe abdominal pain. Triglyceride (TG) levels are considered “normal” when they are less than 150 mg/dL (1.7 mmol/l). People who have FCS have extremely high TGs that may rise up to 10,000 mg/dL (113 mmol/l) or more even after medication and following a low-fat diet.
Dangers of high TGs
Continued buildup of TGs may lead to other health problems, such as fatty liver disease, enlarged liver, enlarged spleen, and pancreatitis.
FCS and pancreatitis
The most serious common complication of FCS is pancreatitis, which often happens when TGs are very high. The pancreas produces hormones, such as insulin, regulates blood sugar and helps digest food. The pancreas becomes inflamed when a patient has pancreatitis. It is extremely painful and may worsen quickly. Repeated attacks of pancreatitis may lead to long-term organ damage, insulin-dependent diabetes, or even death.Severe Symptoms
- Lipemia retinalis
- Neurological symptoms
- Pancreatits
- Hepatosplenomegaly
- Xanthomas
Less Severe Symptoms
- Frequent abdominal and back pain
- Vomiting or diarrhea
- Numbness in feet or legs
- Pancreatits
- Forgetfulness
- Fatigue