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Genetic variants are associated with familial chylomicronemia syndrome (FCS)41

Its recessive inheritance pattern means people with FCS may have no family history of the condition.14

A deficiency of functional lipoprotein lipase (LPL) causes about 80-90% of FCS cases. Other cases arise from defects in five genes related to LPL processing, activation, or function.41

Another gene, CREB3L3, has been linked to very rare cases of FCS.42 The transcription factor protein produced by CREB3L3 regulates the expression of other genes linked with FCS, such as APOC2 and APOA5.40

Genetic testing may aid in diagnosing FCS

For those presenting with the clinical characteristics of FCS, multigene panels search for functional mutations in the genes essential to LPL function.4 Confirming diagnosis with such a test may aid in recommendations for lifestyle and diet changes as well as referrals to specialists such as a lipidologist.4

Sponsored by Ionis Pharmaceuticals, the FCS Genetic Testing program from Prevention Genetics is available to certain qualifying patients who have:

  • Extremely high triglyceride levels (>880 mg/dL or >10 mmol/L), on two fasting blood tests in a row.
  • No other known causes of high TG levels. 

As part of the program’s partnership, an independent genetic counseling service, Genome Medical, can provide information on FCS and support 
during the genetic testing process.

Call +1 888.478.1494 to learn more. 

learn about the clinical features of fcs >

REFERENCES

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