Intermittent chylomicronemia caused by intermittent GPIHBP1 autoantibodies |
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| Affiliation: | 1. Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA;2. Immuno-Biological Laboratories (IBL), Fujioka, Gunma, Japan;3. Department of Clinical Laboratory Medicine, Gunma University, Graduate School of Medicine, Maebashi, Japan;4. Robarts Research Institute, Western University, London, Ontario, Canada;5. Finsen Laboratory, Rigshospitalet, Copenhagen N, Denmark;6. Biotech Research and Innovation Centre (BRIC), University of Copenhagen, Copenhagen N, Denmark;7. Departments of Medicine and Human Genetics, David Geffen School of Medicine, University of California Los Angeles, CA, USA;8. Departments of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA;1. Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN, USA;2. Division of Cardiology, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA;1. Center for Lipid Metabolomics, Division of Preventive Medicine, Brigham and Women''s Hospital, Harvard Medical School, Boston, MA, USA;2. Division of Preventive Medicine, Brigham and Women''s Hospital, Boston, MA, USA;3. Quest Diagnostics, San Juan Capistrano, CA, USA;4. VAP Diagnostics Laboratory, Birmingham, AL, USA;5. Department of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA, USA;6. California Cardiovascular Institute, Fresno, CA, USA;7. Children''s Hospital Oakland Research Institute, Oakland, CA, USA;8. Division of Cardiovascular Medicine, Brigham and Women''s Hospital and Harvard Medical School, Boston, MA, USA;1. Division of Hospital Medicine, Baystate Medical Center, Springfield, MA, USA;2. Division of Cardiology, Hartford Hospital, Hartford, CT, USA;1. Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China;2. Key Laboratory of Nephrology, National Health Commission and Guangdong Province, Guangzhou, Guangdong, China;3. Department of Nephrology, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong, China;4. Department of Nephrology, Guangdong Provincial People''s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China;5. Clinical Trials Unit, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China |
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| Abstract: | Chylomicronemia caused by a deficiency in lipoprotein lipase (LPL) or GPIHBP1 (the endothelial cell protein that transports LPL to the capillary lumen) is typically diagnosed during childhood and represents a serious, lifelong medical problem. Affected patients have high plasma triglyceride levels (>1500 mg/dL) and a high risk of acute pancreatitis. However, chylomicronemia frequently presents later in life in the absence of an obvious monogenic cause. In these cases, the etiology for the chylomicronemia is presumed to be “multifactorial” (involving diabetes, drugs, alcohol, or polygenic factors), but on a practical level, the underlying cause generally remains a mystery. Here, we describe a 15-year-old female with chylomicronemia caused by GPIHBP1 autoantibodies (which abolish LPL transport to the capillary lumen). Remarkably, chylomicronemia in this patient was intermittent, interspersed between periods when the plasma triglyceride levels were normal. GPIHBP1 autoantibodies were easily detectable during episodes of chylomicronemia but were undetectable during periods of normotriglyceridemia. During the episodes of chylomicronemia (when GPIHBP1 autoantibodies were present), plasma LPL levels were low, consistent with impaired LPL transport into capillaries. During periods of normotriglyceridemia, when GPIHBP1 autoantibodies were absent, plasma LPL levels normalized. Because the chylomicronemia in this patient was accompanied by debilitating episodes of acute pancreatitis, the patient was ultimately treated with immunosuppressive drugs, which resulted in disappearance of GPIHBP1 autoantibodies and normalization of plasma triglyceride levels. GPIHBP1 autoantibodies need to be considered in patients who present with unexplained acquired cases of chylomicronemia. |
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| Keywords: | LPL lipoprotein lipase GPIHBP1 |
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