Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan.
Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan.
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DOI：
10.1186/s13075-018-1738-1
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发表时间：
2018-11-20
影响因子：
4.9
通讯作者：
Kawakami A
中科院分区：
文献类型：
--
作者：
Endo Y;Koga T;Ishida M;Fujita Y;Tsuji S;Takatani A;Shimizu T;Sumiyoshi R;Igawa T;Umeda M;Fukui S;Nishino A;Kawashiri SY;Iwamoto N;Ichinose K;Tamai M;Nakamura H;Origuchi T;Agematsu K;Yachie A;Masumoto J;Migita K;Kawakami A
我们以前表明，日本人与家族性地中海热（FMF）有一个更不典型的表型相比，流行区。在日本，晚发型FMF（YOFMF）、成人型FMF（AOFMF）和晚发型FMF（LOFMF）之间的临床差异尚不清楚。我们招募了395名连续患者。我们将YOFMF、AOFMF和LOFMF分别定义为< 20岁、20-39岁和≥ 40岁时发生的FMF。我们比较了这些组之间的临床表现和MEFV突变模式。发病时的中位年龄为YOFMF 12.5岁（n = 182）、AOFMF 28岁（n = 115）和LOFMF 51岁（n = 90）。家族史、MEFV第10外显子突变和两个以上MEFV突变在早发组中显著更常见（分别为p < 0.01、p < 0.0001和p < 0.001）。在伴随症状中，早发型组的胸痛和腹痛明显更常见（分别为p < 0.01和p < 0.0001），而晚发型组的关节炎和肌痛明显更常见（分别为p < 0.0001和p < 0.01）。多因素Logistic回归分析显示，MEFV外显子10突变的存在和较早发病与浆膜炎显著相关，而MEFV外显子10突变的缺失、较晚发病和丹毒样红斑的存在与肌肉骨骼表现显著相关。在对秋水仙碱的反应性方面，组间无显著差异。我们的研究结果表明，晚发型FMF患者的MEFV突变的比例较低，外显子10和主要表现为关节炎和肌痛。重要的是要将其FMF与其他炎症性疾病区分开来。本文的在线版本（10.1186/s13075-018-1738-1）包含补充材料，可供授权用户使用。
We showed previously that Japanese individuals with familial Mediterranean fever (FMF) have a more atypical phenotype compared to endemic areas. The clinical differences between young-onset FMF (YOFMF), adult-onset FMF (AOFMF), and late-onset FMF (LOFMF) in Japan are unclear. We enrolled 395 consecutive patients. We defined YOFMF, AOFMF, and LOFMF as the onset of FMF at < 20, 20–39, and ≥ 40 years of age, respectively. We compared clinical manifestations and MEFV mutations patterns among these groups. Median ages at onset were YOFMF 12.5 years (n = 182), AOFMF 28 years (n = 115), and LOFMF 51 years (n = 90). A family history, MEFV mutations in exon 10, and more than two MEFV mutations were significantly more frequent in the earlier-onset groups (p < 0.01, p < 0.0001, and p < 0.001, respectively). In the accompanying manifestations, thoracic and abdominal pain were significantly more frequent in the earlier-onset groups (p < 0.01 and p < 0.0001, respectively), whereas arthritis and myalgia were significantly more frequent in the later-onset groups (p < 0.0001 and p < 0.01, respectively). The multiple logistic regression analysis revealed that the presence of MEFV exon 10 mutations and earlier onset were significantly associated with serositis, whereas the absence of MEFV exon 10 mutations, later onset, and the presence of erysipelas-like erythema were significantly associated with musculoskeletal manifestations. There was no significant between-group difference in the responsiveness to colchicine. Our results indicate that the later-onset FMF patients had a lower percentage of MEFV mutations in exon 10 and predominantly presented arthritis and myalgia. It is important to distinguish their FMF from other inflammatory diseases. The online version of this article (10.1186/s13075-018-1738-1) contains supplementary material, which is available to authorized users.
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影响因子：
1.6
作者：
Migita K;Agematsu K;Yazaki M;Nonaka F;Nakamura A;Toma T;Kishida D;Uehara R;Nakamura Y;Jiuchi Y;Masumoto J;Furukawa H;Ida H;Terai C;Nakashima Y;Kawakami A;Nakamura T;Eguchi K;Yasunami M;Yachie A
通讯作者：
Yachie A
影响因子：
5.5
作者：
Ben-Chetrit, Eldad;Peleg, Hagit;Heyman, Samuel N.
通讯作者：
Heyman, Samuel N.
影响因子：
27.4
作者：
Giancane, Gabriella;Ter Haar, Nienke M.;Ozen, Seza
通讯作者：
Ozen, Seza
影响因子：
--
作者：
Livneh, A;Langevitz, P;Pras, M
通讯作者：
Pras, M
影响因子：
27.4
作者：
Rabinovich, E;Livneh, A;Shinar, Y
通讯作者：
Shinar, Y