Transforming the recognition and management of persistent chylomicronemia
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A new framework for the categorization and management of chylomicronemia - an extreme form of hypertriglyceridemia defined as triglyceride (TG) greater than or equal to 1000 mg/dL) is being recommended by experts from the National Lipid Association (NLA) and the American Society for Preventive Cardiology (ASPC), including experts from Baylor College of Medicine.
Dr. Christie Ballantyne, professor of medicine and chief of cardiovascular research at Baylor and a cardiologist at the Texas Heart Institute at Baylor, and Dr. Daniel Gaudet with Université de Montréal, both are co-senior authors on this expert clinical consensus published in the Journal of Clinical Lipidology, and Dr. Seyedmohammad Saadatagah, an upcoming cardiology fellow, and Miriam Larouche, MSc, are co-first authors.
Currently, individuals with chylomicronemia are categorized as having familial chylomicronemia syndrome (FCS) or multifactorial chylomicronemia (MCS). FCS is rare (1 to10 people per million) and caused by biallelic pathogenic variants. On the other hand, MCS is more common (1 in 500 people) and is multifactorial, including other genetic variants, high polygenic risk score, and environmental factors.
“The current approach for chylomicronemia is focused on genotype, FCS or MCS, and there are no effective treatments for patients with severe forms other than lifestyle changes and triglyceride-lowering medications with limited efficacy,” said Ballantyne. “We need a new approach as the current approach is complicated and not understood by most physicians and patients.”
A pragmatic approach should emphasize the severity of the triglyceride elevations and the risk of complications. It has been shown that more than 90% of patients with chylomicronemia will be at least partially controlled with lifestyle modification and conventional TG-lowering medications.
Therefore, the term “persistent chylomicronemia” defined as TG greater than or equal to 1000 mg/dL in more than half of the measurements, was endorsed to encompass patients with a high pancreatitis risk.
The occurrence of acute and chronic pancreatitis in patients with persistent chylomicronemia (PC) is 26% and 12%, respectively. Persistent chylomicronemia is rare ( about 1 per 5500 individuals) but more common than FCS. Learn more here.
Within the PC group, we have also defined “alarm features” that can identify patients with PC at the highest risk of pancreatitis. Alarm features include:
- History of recurrent triglyceride-induced acute pancreatitis
- Recurrent hospitalizations for severe abdominal pain with no other identifiable cause
- Childhood pancreatitis
- Family history of triglyceride-induced pancreatitis
- Poste-heparin lipoprotein lipase activity <20%
- Positive genetic testing for biallelic pathogenic variants
“This is a step toward more pragmatic and personalized approach in the management of chylomicronemia,” Ballantyne said. “By including this type of criteria and highlighting high-risk features, we can focus our intervention approaches and prevent severe outcomes like pancreatitis.”
The researchers stress that while the new expert consensus offers a promising framework, continued research in a large, diverse population is essential to refine the criteria and fully understand the implications for treatment.
All authors on the paper include Drs. Seyedmohammad Saadatagah, Miriam Larouche, Mohammadreza Naderian, Vijay Nambi, Diane Brisson, Iftikhar J. Kullo, Barton Duell, Erin D. Michos, Michael D. Shapiro, Gerald F. Watts, Daniel Gaudet, and Christie M. Ballantyne.
For affiliations, disclosures and funding information please see the full publication.