Balance

The challenges of FCS

The challenges of FCS

The challenges of FCS

FCS is a rare autosomal recessive disease with an estimated incidence of 1-2 in 1 000 000 individuals1

The challenge of diagnosing FCS

Around 67% of patients have described being misdiagnosed2

Clinical characteristics to look out for3

  • Lipemic blood, caused by the presence of greatly elevated plasma chylomicrons, even in the fasting state
  • Severe hypertriglyceridaemia refractory to standard lipid-lowering therapies
  • No secondary causes of high TGs (alcohol, uncontrolled diabetes)
  • History of acute pancreatitis/abdominal pain of unknown cause

 

 

The challenge with high triglyceride levels5

Patients with FCS have plasma triglyceride levels 10–100 times the normal value*5

The most severe clinical consequence of chylomicronaemia is increased risk of recurrent and potentially fatal acute pancreatitis5

 

* 17–170 mmol/L

The challenge of living with FCS2

Patients with FCS frequently experience manifestations that have a considerable impact on their daily lives.2 75% of patients felt that their social lives were restricted by FCS.2

Anxiety, fear and worryabout living with fcs1feeling helpless1abdominal pain, bloating,indigestion and fatigue1uncertainty about whator how much to eat1difficulty concentrating, impairmentof judgement, forgetfulness1”brain fog”1

Despite a restrictive diet, the risk of adverse consequences of raised TGs remains2,6

The FCS diet differs from general low-fat dieting

  • <10–15% daily caloric intake from fat or 15–20 g of fat per day6,7,8
  • Limited simple and refined carbohydrates; limited foods with added sugars6,7
  • No alcohol6,7

References

  1. Stroes E et al. Atheroscler Suppl 2017;23:1–7;
  2. Davidson M et al. J Clin Lipidol 2018;12(4):898–907.
  3. Brahm AJ, Hegele RA. Nat Rev Endocrinol 2015;11:352-62.
  4. Moulin P, et al. Atherosclerosis. 2018;275:265–272
  5. Gaudet D et al. N Engl J Med 2014;371:2200–6.
  6. Alexander L et al. Familial chylomicronaemia Syndrome (FCS): Medical Nutrition Therapy for Patients and Providers. Presented at NLA Scientific Sessions; Philadelphia, PA; 17–20 May, 2017;
  7. Williams L et al. J Clin Lipidol 2018;12:908–19;
  8. Burnett JR et al. In: Adam MP, Ardinger HH, Pagon RA et al. Editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1308/ (Accessed February 2021))