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Chylomicronemia through a burr hole: A case report
Wann Jia Loh1,2,3,4, Ramesh Bakthavachalam5, Tavintharan Subramaniam6,7
1Department of Endocrinology, Changi General Hospital, Singapore, Singapore.
Frontiers in Cardiovascular Medicine
|October 31, 2022
Summary
Multifactorial chylomicronemia, often caused by lifestyle and genetic factors, can lead to severe health issues. This case highlights successful management through weight loss, diet changes, and medication, normalizing triglyceride levels.
Area of Science:
- Endocrinology
- Genetics
- Neurology
Background:
- Chylomicronemia, characterized by high triglyceride levels, can be monogenic or multifactorial.
- Multifactorial chylomicronemia results from genetic predisposition interacting with secondary factors like obesity, diabetes, diet, and medications.
Observation:
- A 38-year-old male presented with subarachnoid hemorrhage, revealing lactescent cerebrospinal fluid during surgery.
- His serum triglyceride concentration was markedly elevated at 52.4 mmol/L, with detectable triglycerides in cerebrospinal fluid.
Findings:
- The patient's chylomicronemia was attributed to rapid weight gain, obesity, and unfavorable lifestyle factors.
- Genetic testing identified a homozygous variant in APOA5 and a heterozygous variant in GPIHBP1, contributing to the condition.
- The interaction between genetic factors and environmental conditions precipitated multifactorial chylomicronemia.
Implications:
- Aggressive management, including weight loss, dietary modification, alcohol cessation, and lipid-lowering medications, normalized plasma triglyceride levels.
- This case underscores the importance of identifying and addressing both genetic and secondary factors in managing severe chylomicronemia.
- Effective treatment strategies can significantly improve outcomes for patients with multifactorial chylomicronemia.
