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ORIGINAL RESEARCH article
Front. Immunol.
Sec. Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders
Volume 15 - 2024 |
doi: 10.3389/fimmu.2024.1471115
This article is part of the Research Topic Advances in Antigen-Specific Immunotherapies for Autoimmune Disease Management View all 8 articles
The IVIG Treatment Response in Autoimmune Polyendocrine Syndromes Type 2 with Anti-GAD65 Antibody-Associated Stiff Person Syndrome: A Case Report and Literature Review
Provisionally accepted
Yulong Yang
1*
Hailin Jiang
1*
Wenming Yang
1,2,3*
Han Wang
1,2*
Meixia Wang
1,2*
Xiang Li
1*
Peng Huang
1*
Shuzhen Fang
1*
Wenjie Hao
1*
Yue Yang
1*
Furong Zhao
1*
Wei He
1*- 1 First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
- 2 Key Laboratory of Xin'an Medicine, Ministry of Education, Anhui University of Chinese Medicine, Hefei, Anhui Province, China
- 3 Center for Xin'an Medicine and Modernization of Traditional Chinese Medicine, Institute of Artificial Intelligence, Hefei Comprehensive National Science Center, Hefei, Anhui Province, China
Autoimmune polyendocrine syndromes (APS) is a rare group of disorders caused by impaired function of multiple endocrine glands due to disruption of immune tolerance. Of which, type 2 (APS-2) is the most common. Glutamic acid decarboxylase (GAD) is the rate-limiting enzyme for the synthesis of gamma-aminobutyric acid (GABA). Anti-GAD antibodies are associated with various neurological disorders, including stiff person syndrome (SPS). SPS is characterized by axial muscle stiffness, rigidity, and intermittent painful muscle spasms, with a prevalence of one to two in a million, making it an extremely rare neurological disorder. The comorbidity of APS-2 with SPS is even rarer. Most practicing neurologists encounter only one or two cases of APS-2 combined with anti-GAD65 antibody-associated SPS in their careers, resulting in underdiagnosis and undertreatment, leading to severe disability and suffering. This case report describes a young male who initially exhibited hair loss, vitiligo, and previously unreported eosinophilia. Before his diagnosis, he was admitted multiple times, with symptoms improving following the addition of intravenous immunoglobulin (IVIG) therapy to a poor treatment regimen. This paper aims to increase physicians' awareness of this condition, enhancing the likelihood of early diagnosis and treatment.
Keywords: anti-GAP65 antibody, stiff person syndrome, Autoimmune polyendocrine syndrome type 2, Intravenous Immunoglobulin, case report
Received: 26 Jul 2024; Accepted: 12 Dec 2024.
Copyright: © 2024 Yang, Jiang, Yang, Wang, Wang, Li, Huang, Fang, Hao, Yang, Zhao and He. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Yulong Yang, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
Hailin Jiang, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
Wenming Yang, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
Han Wang, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
Meixia Wang, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
Xiang Li, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
Peng Huang, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
Shuzhen Fang, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
Wenjie Hao, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
Yue Yang, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
Furong Zhao, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
Wei He, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, Anhui Province, China
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