Lira Javier, Dixon Paige, Zaidi Mone, Kim Se-Min
Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Center for Translational Medicine and Pharmacology, Department of Pharmacological Science, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
JCEM Case Rep. 2025 Aug 13;3(9):luaf156. doi: 10.1210/jcemcr/luaf156. eCollection 2025 Sep.
Thyroid acropachy is a rare extrathyroidal manifestation of Graves' disease. Due to a limited understanding of the pathophysiology, no specific treatment exists. Here we discuss such a case and its response to treatment. A 25-year-old male with Graves' disease, for which he had total thyroidectomy 2 years previously, presented with worsening double vision. He also reported swelling in legs, as well as pain and stiffness in his hands and feet. Physical examination revealed bilateral asymmetric proptosis and plaque-like lesions with nonpitting edema on the pretibial skin. Fusiform swelling of the fingers and clubbing of the fingernails and toenails were also noted. Laboratory findings showed elevated thyrotropin-receptor antibodies of 81.1 IU/L (0.0-1.75). He was euthyroid with levothyroxine supplementation. Bilateral hand X-rays noted soft tissue swelling and bilateral periostitis and subperiosteal bone formation. Teprotumumab was initiated for Graves' ophthalmopathy, which improved his proptosis and orbital inflammation. Notably, the patient's pretibial myxedema, along with swelling in the bilateral metacarpals and phalanges, also improved. This case is the first to demonstrate clinical improvement in thyroid acropachy following teprotumumab. This observation suggests that pathophysiology of thyroid acropachy may involve interplay between the TSH receptor and IGF-1 receptor signaling, similar to the ophthalmopathy.
甲状腺性杵状指（趾）是格雷夫斯病一种罕见的甲状腺外表现。由于对其病理生理学的了解有限，目前尚无特效治疗方法。在此，我们讨论这样一个病例及其治疗反应。一名25岁男性，患有格雷夫斯病，2年前已行甲状腺全切除术，现出现复视加重。他还报告腿部肿胀，以及手脚疼痛和僵硬。体格检查发现双侧不对称突眼，胫前皮肤有斑块样病变伴非凹陷性水肿。还注意到手指呈梭形肿胀，指甲和趾甲杵状变。实验室检查结果显示促甲状腺素受体抗体升高至81.1 IU/L（0.0 - 1.75）。他在补充左甲状腺素的情况下甲状腺功能正常。双手X线检查显示软组织肿胀、双侧骨膜炎和骨膜下骨形成。开始使用替普罗单抗治疗格雷夫斯眼病，这改善了他的突眼和眼眶炎症。值得注意的是，患者的胫前黏液性水肿以及双侧掌骨和指骨肿胀也有所改善。该病例是首例显示替普罗单抗治疗后甲状腺性杵状指（趾）有临床改善的病例。这一观察结果表明，甲状腺性杵状指（趾）的病理生理学可能涉及促甲状腺激素受体和胰岛素样生长因子-1受体信号之间的相互作用，类似于眼病。
