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 FCS19

These indicators call for a consideration of an FCS diagnosis:

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

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No known secondary causes for their sHTG*

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Recurrent abdominal pain or history of acute pancreatitis

*

Hypertriglyceridemia can be caused by medications such as glucocorticoids, ethinylestradiol, and neuroleptics, or conditions such as uncontrolled diabetes, hypothyroidism, and pregnancy.19FCS=familial chylomicronemia syndrome; sHTG=severe hypertriglyceridemia.

Genetic testing and clinical scoring can support an FCS diagnosis

Ionis has partnered with PreventionGenetics to provide no-cost, confidential genetic tests for eligible patients who†:

  • Have evidence of severe refractory hypertriglyceridemia, defined by a minimum of 2 consecutive fasting triglyceride levels ≥880 mg/dL or 10 mmol/L
  • Lack secondary causes known to cause sHTG
  • Are residents of the United States
Prevention Genetics Brochure

PreventionGenetics Brochure

Download an overview of FCS patient identification, diagnostic scoring tools, and no-cost genetic testing
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No-cost genetic testing is also available through Genome Medical
at 1-888-478-1494.

To learn more about no-cost genetic testing, click here.

FCS clinical scoring tools are also available to support diagnosis5,19:

  • The North American FCS (NAFCS) Score: Developed in 2024 and validated specifically in North American patients
  • Clinical criteria developed by Moulin et al: A panel of European experts developed an algorithm-based diagnostic tool that was published in 2018

†Tests must be ordered by a qualified healthcare professional and informed consent must be provided by the patient.
Note that other companies also offer genetic testing services for FCS.
FCS= familial chylomicronemia syndrome. sHTG=severe hypertriglyceridemia.