1. Home
  2. Products
  3. Waylivra▼ (volanesorsen)
  4. Diagnosing FCS
Waylivra - About FCS

Diagnosing FCS

 

Due to its rarity, the recognition and correct diagnosis of FCS is challenging.2 Around 67% of patients have described being misdiagnosed.3

 

Diagnosis of FCS requires documentation of at least one of the following:1

  • Confirmed homozygote, compound heterozygote, or double heterozygote for known loss-of-function mutations in Type 1-causing genes (such as LPL, APOC2, GPIHBP1, or LMF1)
  • Post-heparin plasma LPL activity of ≤20% of normal
Blood sample 3

Clinical and biochemical characteristics to look out for (this list is not exhaustive)4

  • TG levels >885 mg/dL (10 mmol/L)
  • Lipaemic blood, caused by the presence of greatly elevated plasma chylomicrons, even in the fasting state
  • Severe hypertriglyceridemia refractory to standard lipid-lowering therapies
  • No secondary causes of high TGs (e.g. alcohol, uncontrolled diabetes)
  • History of acute pancreatitis/abdominal pain of unknown cause

 

FCS scoring system


A panel of European experts have provided guidance on the diagnostic strategy surrounding FCS and proposed an algorithm-based diagnosis tool for identification of these patients.4

 

APOC2: apolipoprotein C2, FCS: familial chylomicronemia syndrome, GPIHBP1: glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1, LMF1: lipase maturation factor 1, LPL: lipoprotein lipase, TG: triglycerides

 

References

  1. Waylivra Summary of Product Characteristics. 
  2. Stroes E et al. Atheroscler Suppl 2017;23:1–7.
  3. Davidson M et al. Expert Rev Cardiovasc Ther 2017;15(5):415–23.
  4. Moulin P et al. Atherosclerosis 2018;275:265–72.

 

▼ This medicinal product is subject to additional monitoring. This will allow quick identification of new safety information. Healthcare professionals are asked to report any suspected adverse reactions.  Adverse events should be reported. Reporting forms and information can be found at www.mhra.gov.uk/yellowcard. Adverse events should also be reported to Swedish Orphan Biovitrum Ltd at [email protected] or Telephone +44 (0) 800 111 4754

PP-22577
Other sites
expand_less