Suspected of having familial chylomicronemia syndrome (FCS)
(Images are not of actual patients and case studies are illustrative.)
No one seems to know what I have.
Ava (aged 19) is exhibiting typical signs of familial chylomicronemia syndrome (FCS) but is currently undiagnosed.
- Ava has a history of abdominal pain. She first visited the emergency room with severe abdominal pain at the age of 16. At that time doctors said her triglycerides were 1650 mg/dL which was severely elevated.
- With no known secondary causes of elevated triglyceride levels, Ava was referred to a lipidologist to assess her condition.
- Both Ava and her lipidologist were puzzled that the standard lipid lowering therapies she was prescribed did not lower her triglyceride levels.
- Ava continues to experience episodes of severe abdominal pain.
Clinical Presentation
Severely elevated triglycerides, consistently above 1500 mg/dL
History of recurrent abdominal pain since childhood
Has experienced little to no response to traditional oral medications used to lower triglyceride levels