How is severe hypertriglyceridemia (sHTG) diagnosed?

Triglyceride levels are usually measured by a type of blood test known as a lipid panel. A lipid panel also measures LDL and HDL cholesterol levels, and sometimes other lipids. 35

If a lipid panel shows you have sHTG, that does not tell you why your triglycerides are high. There are many causes of sHTG, and some can be detected only with more tests. 8

You and your doctor should discuss whether you need additional testing to find out why your triglyceride levels are high.

When to seek a more detailed diagnosis

One or two people in every 1,000 with sHTG will have familial chylomicronemia syndrome (FCS), a rare genetic type of sHTG. 1

People with FCS typically have very high triglyceride levels, as well as very high risk for pancreatitis and other symptoms. Diagnosis of FCS is important because FCS requires special treatment approaches to keep triglyceride levels low. 8

Healthcare professionals may not know about FCS, leaving many people with it for long-term maintenance without a complete diagnosis or help managing it. 8

If you have any of the following, talk to your doctor about the possibility you may have FCS:

  • Triglyceride levels above 880 mg/dL (10 mmol/L) on two or more lipid panels
  • Pancreatitis on more than one occasion or repeated episodes of unexplained, severe abdominal pain

If your doctor suspects that you have FCS, you may qualify for genetic testing sponsored by Ionis Pharmaceuticals. Talk to your doctor about whether you should get genetic testing.

Another genetic condition that causes sHTG is dysbetalipoproteinemia. Diagnosis of this condition usually does not require genetic testing, but may require referral to a lipidologist. 14

More information about FCS and dysbetalipoproteinemia is on the FCS and Genetic Disorders page.

Show References
 
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