Early diagnosis and referral can lower the risk of acute pancreatitis1–5

Familial Chylomicronaemia Syndrome (FCS) can be confirmed by either clinical diagnosis or genetic testing1,2

FCS can be diagnosed both clinically and genetically1,2

People with extremely high triglycerides that do not respond to conventional triglyceride-lowering approaches (e.g., fibrates, statins, and omega-3 fatty acids) may display clinical characteristics similar to FCS, but have no clear genetic cause1,2,6

However, clinical manifestation of FCS, including treatment resistance and acute pancreatitis, can also have a multifactorial, polygenic cause1,6

Genetic confirmation of FCS can be a challenge but is not a requirement for formal diagnosis1,2

Clinical confirmation of FCS

Factors that can clinically characterise FCS and may warrant referral to specialists include:1,2,7

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Persistent triglyceride levels above 10 mmol/L (880 mg/dL)

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Prior history of acute pancreatitis

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Recurrent hospitalisations for severe abdominal pain without other explainable cause

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History of childhood pancreatitis

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Family history of hypertriglyceridaemia-induced acute pancreatitis

Aim for early diagnosis and referral

The sooner people with FCS are referred to specialists (e.g., lipids specialists, endocrinologists, and cardiologists holding lipid expertise), the sooner the underlying cause of elevated triglycerides can be diagnosed. Holistic support from a dedicated healthcare team can aim to lower the risk of acute pancreatitis by lowering triglyceride levels to ≤10 mmol/L (880 mg/dL)3,8-10

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Common misconceptions could delay diagnosis

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Abbreviations

AP, acute pancreatitis; FCS, Familial Chylomicronaemia Syndrome.

Show References Expand Collapse

  1. Larouche MB, Watts GFC, et al. Curr Opin Endocrinol Diabetes Obes. 2025;32(2):75–88.
  2. Moulin P, Dufour R, et al. Atherosclerosis. 2018;275:265–72.
  3. Mach F, Baigent C, et al. Eur Heart J. 2020;41(1):111–88.
  4. Santos RD, Watts GF, et al. J Clin Lipidol. 2021;15(4):620–4.
  5. Brown WV, Goldberg IJ, et al. J Clin Lipidol. 2018;12(2):254–63.
  6. Goldberg RB, Chait A, et al. Front Endocrinol (Lausanne). 2020;11:593931.
  7. Javed F, Hegele RA, et al. J Clin Lipidol. 2025;19(3):382–403.
  8. Witztum JL, Tsimikas S, et al. J Clin Lipidol. 2023;17(3):342–55.
  9. Falko JM. Endocr Pract. 2018;24(8):756–63.
  10. Stroes E, Moulin P, et al. Atheroscler Suppl. 2017;23:1–7.

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