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非典型家族性地中海热合并胃肠道淀粉样变性,因阵发性关节痛和顽固性腹泻而确诊,用托珠单抗成功治疗。

Atypical Familial Mediterranean Fever Complicated with Gastrointestinal Amyloidosis Diagnosed due to Paroxysmal Arthralgia and Intractable Diarrhea, Successfully Treated with Tocilizumab.

作者信息

Aikawa Erika, Shimizu Toshimasa, Koga Tomohiro, Endo Yushiro, Umeda Masataka, Hori Tomoko, Irie Junji, Kuroda Kishio, Eguchi Mizuna, Okamoto Momoko, Tsuji Sosuke, Takatani Ayuko, Igawa Takashi, Sumiyoshi Remi, Kawashiri Shin-Ya, Iwamoto Naoki, Ichinose Kunihiro, Tamai Mami, Nakamura Hideki, Origuchi Tomoki, Kawakami Atsushi

机构信息

Department of Immunology and Rheumatology, Nagasaki University Graduate School of Biomedical Sciences, Japan.

Clinical Research Center, Nagasaki University Hospital, Japan.

出版信息

Intern Med. 2019 Jun 15;58(12):1781-1785. doi: 10.2169/internalmedicine.2277-18. Epub 2019 Feb 1.

Abstract

A 53-year-old man with recurrent episodes of large joint pain and a low-grade fever at irregular intervals for 16 years developed right knee and ankle arthralgia, watery diarrhea, and abdominal pain. Following an ileum and colon biopsy, he was diagnosed with gastrointestinal amyloidosis. We suspected familial Mediterranean fever (FMF) based on his history and administered colchicine; his symptoms subsequently improved. Thus, he was diagnosed with atypical FMF. After tocilizumab administration, the amyloid deposits disappeared. This case suggests that physicians should consider FMF even in cases with atypical symptoms in order to prevent the progression of amyloidosis and that amyloid deposits can be eliminated by interleukin (IL)-6 inhibition.

摘要

一名53岁男性,16年来反复出现大关节疼痛和不定期低热,此次出现右膝和踝关节疼痛、水样腹泻及腹痛。经回肠和结肠活检后,他被诊断为胃肠道淀粉样变性。基于其病史,我们怀疑为家族性地中海热(FMF)并给予秋水仙碱治疗;其症状随后有所改善。因此,他被诊断为非典型FMF。使用托珠单抗治疗后,淀粉样沉积物消失。该病例提示,即使是症状不典型的病例,医生也应考虑FMF,以防止淀粉样变性进展,并且通过抑制白细胞介素(IL)-6可消除淀粉样沉积物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/170f/6630114/3ffb0f3c810b/1349-7235-58-1781-g001.jpg

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