The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review
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-...
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Frontiers Media S.A.
2025-01-01
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| author | Yulong Yang Hailin Jiang Wenming Yang Wenming Yang Wenming Yang Han Wang Han Wang Meixia Wang Meixia Wang Xiang Li Peng Huang Shuzhen Fang Wenjie Hao Yue Yang Furong Zhao Wei He |
| author_facet | Yulong Yang Hailin Jiang Wenming Yang Wenming Yang Wenming Yang Han Wang Han Wang Meixia Wang Meixia Wang Xiang Li Peng Huang Shuzhen Fang Wenjie Hao Yue Yang Furong Zhao Wei He |
| author_sort | Yulong Yang |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-b7c52135769242759080702dd9f5b763 |
| institution | Kabale University |
| issn | 1664-3224 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Immunology |
| spelling | doaj-art-b7c52135769242759080702dd9f5b7632025-01-07T05:23:43ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-01-011510.3389/fimmu.2024.14711151471115The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature reviewYulong Yang0Hailin Jiang1Wenming Yang2Wenming Yang3Wenming Yang4Han Wang5Han Wang6Meixia Wang7Meixia Wang8Xiang Li9Peng Huang10Shuzhen Fang11Wenjie Hao12Yue Yang13Furong Zhao14Wei He15Department of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, ChinaDepartment of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, ChinaDepartment of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, ChinaKey Laboratory of Xin’An Medicine, Ministry of Education Hefei, Anhui, ChinaCenter for Xin’an Medicine and Modernization of Traditional Chinese Medicine, Institute of Health and Medicine Hefei Comprehensive National Science Center, Hefei, Anhui, ChinaDepartment of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, ChinaKey Laboratory of Xin’An Medicine, Ministry of Education Hefei, Anhui, ChinaDepartment of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, ChinaKey Laboratory of Xin’An Medicine, Ministry of Education Hefei, Anhui, ChinaDepartment of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, ChinaDepartment of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, ChinaDepartment of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, ChinaDepartment of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, ChinaDepartment of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, ChinaDepartment of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, ChinaDepartment of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, ChinaAutoimmune 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.https://www.frontiersin.org/articles/10.3389/fimmu.2024.1471115/fullanti-GAP65 antibodystiff person syndromeautoimmune polyendocrine syndrome type 2intravenous immunoglobulincase report |
| spellingShingle | Yulong Yang Hailin Jiang Wenming Yang Wenming Yang Wenming Yang Han Wang Han Wang Meixia Wang Meixia Wang Xiang Li Peng Huang Shuzhen Fang Wenjie Hao Yue Yang Furong Zhao Wei He The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review Frontiers in Immunology anti-GAP65 antibody stiff person syndrome autoimmune polyendocrine syndrome type 2 intravenous immunoglobulin case report |
| title | The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review |
| title_full | The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review |
| title_fullStr | The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review |
| title_full_unstemmed | The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review |
| title_short | The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review |
| title_sort | ivig treatment response in autoimmune polyendocrine syndromes type 2 with anti gad65 antibody associated stiff person syndrome a case report and literature review |
| topic | anti-GAP65 antibody stiff person syndrome autoimmune polyendocrine syndrome type 2 intravenous immunoglobulin case report |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2024.1471115/full |
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