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Genetically confirmed with familial chylomicronemia syndrome (FCS)

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

It’s an awful and draining disease. I’m just so tired of being in the hospital. It takes you away from everything.

Timothy (aged 25) has familial chylomicronemia syndrome (FCS) confirmed by genetic testing.


  • After multiple episodes of extreme abdominal pains as a child, Timothy 
was diagnosed with FCS at age 5. After his pediatrician observed clinical signs consistent with FCS, Timothy was referred to a pediatric metabolic specialist who confirmed the findings and ordered genetic testing for FCS. The results confirmed he was homozygous for a pathogenic LPL variant.
  • Timothy adheres to a restrictive diet of <20 grams of fat per day, but he has still experienced multiple episodes of acute pancreatitis.1
  • FCS continues to impede Timothy’s ability to maintain steady employment.22

LPL = Lipoprotein lipase

Clinical Presentation

Severely elevated triglycerides, ranging between 3500 mg/dL and 6000 mg/dL

History of recurrent abdominal pain since childhood

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

History of acute pancreatitis with multiple hospitalizations

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

REFERENCES

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