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Updated: Aug 20, 2025
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The Isolation of Flowing Mesenteric Lymph in Mice to Quantify In Vivo Kinetics of Dietary Lipid Absorption and Chylomicron Secretion
Published on: November 30, 2022
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Clinical heterogeneity in monogenic chylomicronaemia
Britt E Heidemann1, Remy H H Bemelmans2, A David Marais3
1Department of Vascular Medicine, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.
BMJ Case Reports
|November 24, 2022
Summary
Monogenic chylomicronaemia, a rare cause of high triglycerides, can present differently. Genetic testing is crucial for diagnosing this condition, even with mild symptoms or no pancreatitis.
Area of Science:
- Genetics
- Metabolic Disorders
- Clinical Medicine
Background:
- Hypertriglyceridaemia is often polygenic, influenced by secondary factors.
- Monogenic chylomicronaemia is a less common but significant cause of hypertriglyceridaemia.
- Understanding the diverse clinical presentations is key for diagnosis.
Observation:
- Three distinct cases of monogenic chylomicronaemia illustrate varied clinical presentations.
- Patients exhibited different genetic variants (LMF1, LPL/APOA5, APOC2) and disease severity.
- Mild hypertriglyceridaemia or absence of pancreatitis did not rule out monogenic causes.
Findings:
- Monogenic chylomicronaemia shows significant heterogeneity in clinical manifestation.
- Genetic variants in LMF1, LPL, APOA5, and APOC2 can lead to chylomicronaemia.
- Pancreatitis is a severe complication associated with certain genetic profiles.
Implications:
- Genetic screening is recommended for unexplained or severe hypertriglyceridaemia.
- Early genetic diagnosis enables tailored treatment and management strategies.
- This highlights the importance of considering monogenic causes in all hypertriglyceridaemia patients.
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