Diagnosing FCS
Patient case: Gus

Gus, aged 31, presents with persistently elevated triglyceride levels and a medical history that prompts further evaluation.

He complains of lethargy and brain fog, and continues to experience severe abdominal pain despite having seen multiple gastroenterologists and receiving a diagnosis of irritable bowel syndrome. For the past 2 years, he estimates that he's missed about 3 days of work each month.

Key findings:

  • Diagnosed with severe hypertriglyceridemia (sHTG) at age 9
  • Fasting triglyceride levels >1500 mg/dL that have been consistently refractory to lipid-lowering treatments
  • History of recurrent abdominal pain
  • No known secondary causes of sHTG (eg, certain medications, alcohol use, metabolic syndrome)
  • Body mass index (BMI) of 21.3
  • Total cholesterol=175 mg/dL
  • Apolipoprotein B (apoB)=85 mg/dL

Hypothetical patient case; actor portrayal.

Patient Standing And Thinking

Based on a clinical assessment and genetic testing, Gus is diagnosed with FCS.

Patient Standing And Thinking

Key clinical features of FCS6

Look for these indicators of FCS in your patients:

Bar Chart Icon

Fasting triglyceride levels of ≥880 mg/dL that are refractory to standard triglyceride-lowering therapies

Secondary Causes Checklist Icon

No known secondary causes for their sHTG*

Abdominal Pain Icon

Recurrent abdominal pain or history of acute pancreatitis

Consider using established scoring criteria, such as the North American FCS (NAFCS) score, or the scoring tool developed by Moulin et al in Europe, and genetic testing to diagnose.6,7

*

Hypertriglyceridemia can be caused by medications such as glucocorticoids, ethinylestradiol, and neuroleptics, or conditions such as uncontrolled diabetes, hypothyroidism, and pregnancy.6
FCS=familial chylomicronemia syndrome.