Symptoms & complications

Severe hypertriglyceridemia leads to chylomicronemia resulting in various symptoms

Monogenetic severe HTG, familial chylomicronemia syndrome, has a broad spectrum of signs and symptoms:1

Physical:

Digestion:

  • Bloating*
  • Indigestion*
  • Lack of appetite
  • Flatulence
  • Nausea/vomiting
  • Steotorrhea

Skin:

  • Eruptive xanthomas
  • Skin changes resembling sunburn
  • Excessive sweating
  • Cold sensations

Extermities:

  • Cold extremities
  • Numbness or tingling of digits

Sites of pain:

  • Generalized abdominal pain
  • Back pain
  • Pancreatic pain
  • Joint pain
  • Headaches

Energy:

  • Asthenia*
  • Fatigue*

Other:

  • Jaundice
  • Respiratory problems/dyspnea

Emotional:

Uncertainty about:

  • The possibility of an attack of acute pancreatitis or pain at any time
  • Diet

Anxiety/fear/worry surrounding:

  • Health
  • Social situations
  • FCS testing schedule

Feeling:

  • Out of control/helpless
  • Sad/down/depressed
  • Anger/frustration about having FCS
  • Misunderstood
  • Social withdrawal/isolation

Cognitive:

  • Difficulty concentrating
  • Impaired judgment
  • Brain fog
  • Forgetfulness
  • Comprehension difficulties
  • Recent memory loss
  • Difficulty hearing

Severe and persistent hypertriglyceridemia
(>10mmol/l; >885 mg/dl) increases the risk of:

Acute pancreatitis associated with:2

  • High mortality
  • Higher rates of persistent organ failure
  • Longer hospital stays
  • Increased admission to intensive care units

in comparison with normal triglyceride levels

Chronic pancreatitis which can lead to:3

  • Pancreatic failure in both exocrine and endocrine function, with the occurrence of diabetes

Mild-to-moderate HTG* is associated with high risk of acute pancreatitis in the general population5

Risk of acute pancreatitis by increasing triglycerides level: prospective cohort study (N=116, 550) (median follow-up 6.7 years)

*≥177 mg/dL (≥2mmol/L)
Adjusted for age, sex, and baselune markers of lifestyle and known risk factors for pancreatitis (ie, for education smoking, hypertension, statin use, study cohort, and birth year) CI, confidence interval; HR, hazard ratio; HTG, hypertriglyceridaemia

The importance of early diagnosis in FCS

If you suspect FCS in your patient, use the FCS score to inform your clinical assessment.4

Interactive FCS score

References

  1. Davidson M, et al. The burden of familial chylomicronemia syndrome: Results from the global IN-FOCUS study. J Clin Lipidol 2018;12(4):898–907.
  2. Nawaz H, et al. Elevated serum triglycerides are independently associated with persistent organ failure in acute pancreatitis. Am J Gastroenterol. 2015;110:1497-503.
  3. Gaudet D et al., Review of the clinical development of alipogene tiparvovec gene therapy for lipoprotein lipase deficiency Atherosclerosis Supplements 11 (2010) 55–60
  4. Moulin P, et al. Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an ”FCS score”. Atherosclerosis. 2018;275:265–272.
  5. Pedersen SB et al. Nonfasting Mild-to-Moderate Hypertriglyceridemia and Risk of Acute Pancreatitis. JAMA Intern Med 2016;176:1834–42

You are leaving the Spotlight FCS website

Please note that this third-party website is not controlled by Spotlight FCS or subject to our privacy policy.

Thank you for visiting Spotlight FCS. We hope you come back again soon.

Open