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Learn More About Genetic Testing for Familial Chylomicronemia Syndrome
Familial chylomicronemia syndrome
A small number of people with severe hypertriglyceridemia (sHTG) have a condition called familial chylomicronemia syndrome (FCS).1
People with FCS have genetic variants that severely impair the body’s ability to remove triglycerides from the blood stream.
This condition leads to the build-up of large triglyceride-containing particles called chylomicrons in the blood.1,8. People with FCS have very high risk for pancreatitis and must severely restrict fats in their diet.8
Other symptoms or signs of FCS can include: 8
- Abdominal pain due to pancreatitis
- Loss of feeling in the feet or legs, and memory loss, which can be signs of nerve damage
- Yellowish, waxy-like deposits of fatty material in the skin, called xanthomas
- Fatty deposits in the retina of the eye
- An enlarged liver or spleen
- In blood samples, a creamy layer will appear after the blood is spun in a laboratory machine
- Depression, anxiety, and interference with social activities and interpersonal relationships
What is the role of genes in FCS? 12,13
There are at least seven genes associated with FCS. All of them affect the function of the protein lipoprotein lipase (LPL), essential for removing triglycerides from blood.
Variations in the LPL gene cause about 8 in 10 cases of FCS. Research may find other genes linked to FCS in the future.
Genetic testing for FCS
Ionis Pharmaceuticals is sponsoring confidential genetic testing for people with sHTG that meet the following criteria:
- At least 2 consecutive fasting triglyceride levels above 880 mg/dL at the time of screening
- No secondary causes or medical conditions known to cause HTG
Possible new ways of treating FCS and other causes of sHTG are under investigation. In the future, genetic testing may help determine who is eligible for such treatments if they are shown to be safe and efficacious.
You can talk to a doctor about whether you are eligible for genetic testing through PreventionGenetics.
Another genetic disorder that causes sHTG is dysbetalipoproteinemia.
People with dysbetalipoproteinemia have variations in a gene known as ApoE. They typically have both very high cholesterol levels and very high triglyceride levels. They are also at high risk for pancreatitis.
A common symptom of dysbetalipoproteinemia is the presence of raised, waxy-appearing, often yellowish-colored blemishes on the skin.
Even though dysbetalipoproteinemia is a genetic disorder, it can usually be diagnosed without genetic testing.