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Diagnosed with familial chylomicronemia
syndrome (FCS)

(Images are not of actual patients and case studies are illustrative.)

I used to be an actor until my disease took that ability away from me.

Barbara (aged 34) was clinically 
diagnosed with familial chylomicronemia syndrome (FCS).

  • Barbara was first diagnosed with acute pancreatitis (AP) at 19 years of age.
  • A second episode of AP in her late 20s resulted in a pregnancy loss at 23 weeks, prompting a deeper assessment by a lipidologist.
  • A genetic test for common mutations associated with FCS was inconclusive. However, she was given a diagnosis of FCS based on established clinical signs and symptoms.14

Clinical Presentation

Drastic triglyceride fluctuations, ranging between 2850 mg/dL and 5000 mg/dL

Recurrent acute pancreatitis

Has experienced little to no response to traditional oral medications used to lower triglyceride levels

Pregnancy loss at 23 weeks due to complications from her second episode of acute pancreatitis

view AVA’s CASE REPORT
learn about the diagnostic guideposts of fcs >

REFERENCES

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