GPIHBP1 autoantibodies in a patient with unexplained chylomicronemia

被引:1
作者
Hu, Xuchen [1 ]
Dallinga-Thie, Geesje M. [2 ,3 ]
Hovingh, G. Kees [2 ,3 ]
Chang, Sandy Y. [1 ]
Sandoval, Norma P. [1 ]
Dang, Tiffany Ly P. [1 ]
Fukamachi, Isamu [4 ]
Miyashita, Kazuya [4 ,5 ]
Nakajima, Katsuyuki [5 ]
Murakami, Masami [5 ]
Fong, Loren G. [1 ]
Ploug, Michael [6 ,7 ]
Young, Stephen G. [1 ,8 ]
Beigneux, Anne P. [1 ]
机构
[1] Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Los Angeles, CA 90095 USA
[2] Acad Med Ctr, Dept Vasc Med, Amsterdam, Netherlands
[3] Acad Med Ctr, Dept Expt Vasc Med, Amsterdam, Netherlands
[4] Immunobiol Labs IBL Co Ltd, Fujioka, Gunma, Japan
[5] Gunma Univ, Grad Sch Med, Dept Clin Lab Med, Maebashi, Gunma, Japan
[6] Rigshosp, Finsen Lab, Copenhagen, Denmark
[7] Univ Copenhagen, BRIC, Copenhagen, Denmark
[8] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
关键词
Chylomicrons; Endothelial cells; Lipids; Intravascular lipolysis; Triglycerides; BINDING PROTEIN-1 GPIHBP1; LIPOPROTEIN-LIPASE; FAMILIAL CHYLOMICRONEMIA; TYPE-1; HYPERLIPOPROTEINEMIA; SEVERE HYPERTRIGLYCERIDEMIA; MONOCLONAL-ANTIBODIES; MUTATIONS; SYSTEM; DOMAIN;
D O I
10.1016/j.jac1.2017.05.017
中图分类号
R9 [药学];
学科分类号
1007 ;
摘要
BACKGROUND: GPIHBP1, a glycolipid-anchored protein of capillary endothelial cells, binds lipoprotein lipase (LPL) in the interstitial spaces and transports it to the capillary lumen. GPIHBP1 deficiency prevents LPL from reaching the capillary lumen, resulting in low intravascular LPL levels, impaired intravascular triglyceride processing, and severe hypertriglyceridemia (chylomicronemia). A recent study showed that some cases of hypertriglyceridemia are caused by autoantibodies against GPIHBP1 ("GPIHBP1 autoantibody syndrome"). OBJECTIVE: Our objective was to gain additional insights into the frequency of the GPIHBP1 autoantibody syndrome in patients with unexplained chylomicronemia. METHODS: We used enzyme-linked immunosorbent assays to screen for GPIHBP1 autoantibodies in 33 patients with unexplained chylomicronemia and then used Western blots and immunocytochemistry studies to characterize the GPIHBP1 autoantibodies. RESULTS: The plasma of 1 patient, a 36-year-old man with severe hypertriglyceridemia, contained GPIHBP1 autoantibodies. The autoantibodies, which were easily detectable by Western blot, blocked the ability of GPIHBP1 to bind LPL. The plasma levels of LPL mass and activity were low. The patient had no history of autoimmune disease, but his plasma was positive for antinuclear antibodies. CONCLUSIONS: One of 33 patients with unexplained chylomicronemia had the GPIHBP1 autoantibody syndrome. Additional studies in large lipid clinics will be helpful for better defining the frequency of this syndrome and for exploring the best strategies for treatment. (C) 2017 National Lipid Association. All rights reserved.
引用
收藏
页码:964 / 971
页数:8
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