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Your search keyword '"Hegele, Robert A"' showing total 199 results
Start Over Author "Hegele, Robert A" Journal journal of clinical lipidology
199 results on '"Hegele, Robert A"'

2. Extreme LDL-C concentration is associated with increased cardiovascular disease in women with homozygous familial hypercholesterolemia

Author

Paquette, Martine, Ruel, Isabelle, Guay, Simon-Pierre, Al-Baldawi, Zobaida, Brisson, Diane, Gaudet, Daniel, Couture, Patrick, Bergeron, Jean, Hegele, Robert A, Francis, Gordon A, Sherman, Mark H, McPherson, Ruth, Ransom, Thomas, Brunham, Liam R, Mancini, GB John, McCrindle, Brian W, Iatan, Iulia, Genest, Jacques, and Baass, Alexis

Published
2024
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4. Intermittent chylomicronemia caused by intermittent GPIHBP1 autoantibodies

Author

Ashraf, Ambika P, Miyashita, Kazuya, Nakajima, Katsuyuki, Murakami, Masami, Hegele, Robert A, Ploug, Michael, Fong, Loren G, Young, Stephen G, and Beigneux, Anne P

Subjects
Medical Biochemistry and Metabolomics, Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Research, Good Health and Well Being, Adolescent, Autoantibodies, Female, Humans, Hyperlipoproteinemia Type I, Receptors, Lipoprotein, LPL, lipoprotein lipase, GPIHBP1, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Medical biochemistry and metabolomics
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.

Published
2020

7. Guidance for the diagnosis and treatment of hypolipidemia disorders

Author

Bredefeld, Cindy, Hussain, M. Mahmood, Averna, Maurizio, Black, Dennis D., Brin, Mitchell F., Burnett, John R., Charrière, Sybil, Cuerq, Charlotte, Davidson, Nicholas O., Deckelbaum, Richard J., Goldberg, Ira J., Granot, Esther, Hegele, Robert A., Ishibashi, Shun, Karmally, Wahida, Levy, Emile, Moulin, Philippe, Okazaki, Hiroaki, Poinsot, Pierre, Rader, Daniel J., Takahashi, Manabu, Tarugi, Patrizia, Traber, Maret G., Di Filippo, Mathilde, and Peretti, Noel

Published
2022
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9. GPIHBP1 autoantibody syndrome during interferon β1a treatment

Author

Eguchi, Jun, Miyashita, Kazuya, Fukamachi, Isamu, Nakajima, Katsuyuki, Murakami, Masami, Kawahara, Yuko, Yamashita, Toru, Ohta, Yasuyuki, Abe, Koji, Nakatsuka, Atsuko, Mino, Mai, Takase, Satoru, Okazaki, Hiroaki, Hegele, Robert A, Ploug, Michael, Hu, Xuchen, Wada, Jun, Young, Stephen G, and Beigneux, Anne P

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Autoimmune Disease, 2.1 Biological and endogenous factors, Aetiology, Adult, Autoantibodies, Autoimmune Diseases, Cells, Cultured, Drug-Related Side Effects and Adverse Reactions, Female, Humans, Hyperlipoproteinemia Type I, Interferon-beta, Multiple Sclerosis, Protein Binding, Receptors, Lipoprotein, Syndrome, Triglycerides, Withholding Treatment, GPIHBP1, Hypertriglyceridemia, Interferon beta 1a, Chylomicronemia, Interferon β1a, Medical Biochemistry and Metabolomics, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Medical biochemistry and metabolomics
Abstract

BackgroundAutoantibodies against glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) cause chylomicronemia by blocking the ability of GPIHBP1 to bind lipoprotein lipase (LPL) and transport the enzyme to its site of action in the capillary lumen.ObjectiveA patient with multiple sclerosis developed chylomicronemia during interferon (IFN) β1a therapy. The chylomicronemia resolved when the IFN β1a therapy was discontinued. Here, we sought to determine whether the drug-induced chylomicronemia was caused by GPIHBP1 autoantibodies.MethodsWe tested plasma samples collected during and after IFN β1a therapy for GPIHBP1 autoantibodies (by western blotting and with enzyme-linked immunosorbent assays). We also tested whether the patient's plasma blocked the binding of LPL to GPIHBP1 on GPIHBP1-expressing cells.ResultsDuring IFN β1a therapy, the plasma contained GPIHBP1 autoantibodies, and those autoantibodies blocked GPIHBP1's ability to bind LPL. Thus, the chylomicronemia was because of the GPIHBP1 autoantibody syndrome. Consistent with that diagnosis, the plasma levels of GPIHBP1 and LPL were very low. After IFN β1a therapy was stopped, the plasma triglyceride levels returned to normal, and GPIHBP1 autoantibodies were undetectable.ConclusionThe appearance of GPIHBP1 autoantibodies during IFN β1a therapy caused chylomicronemia. The GPIHBP1 autoantibodies disappeared when the IFN β1a therapy was stopped, and the plasma triglyceride levels fell within the normal range.

Published
2019

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