Anti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review
Abstract
A 42-year-old woman with positive anti-citrullinated protein antibody (ACPA) and rheumatoid factor (RF) levels exhibited arthralgia, but she did not fulfill the criteria for rheumatoid arthritis (RA). Subsequently, the patient exhibited episodic monoarthritis with a remarkable response to colchicine. An analysis of the MEFV gene identified heterozygous variants, L110P and E148Q, thus indicating a colchicine-responsive autoinflammatory condition. The patient was later diagnosed with RA and achieved remission with abatacept and colchicine. This case illustrates that ACPA-positive arthralgia evolves into RA through an autoinflammatory mechanism, thereby underscoring the diagnostic difficulties arising from the convergence of both autoimmune and autoinflammatory characteristics.
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BibTeX
@article{itoh2026anticitrullinated,
title = {{Anti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review}},
author = {Kazuhiro Itoh and Hiroshi Tsutani and Nozomi Otsuki and Atsushi Kuwata and Chiyo Kiriba and Yoshimasa Urasaki and Masamichi Ikawa and Hiromichi Iwasaki and Yasuhiko Mitsuke},
journal = {Internal Medicine},
year = {2026},
month = sep,
doi = {10.2169/internalmedicine.6634-25},
url = {https://www.jstage.jst.go.jp/article/internalmedicine/65/17/65_6634-25/_article},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Anti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review
AU - Kazuhiro Itoh
AU - Hiroshi Tsutani
AU - Nozomi Otsuki
AU - Atsushi Kuwata
AU - Chiyo Kiriba
AU - Yoshimasa Urasaki
AU - Masamichi Ikawa
AU - Hiromichi Iwasaki
AU - Yasuhiko Mitsuke
PY - 2026
DA - 2026/09/01
JO - Internal Medicine
DO - 10.2169/internalmedicine.6634-25
UR - https://www.jstage.jst.go.jp/article/internalmedicine/65/17/65_6634-25/_article
AB - A 42-year-old woman with positive anti-citrullinated protein antibody (ACPA) and rheumatoid factor (RF) levels exhibited arthralgia, but she did not fulfill the criteria for rheumatoid arthritis (RA). Subsequently, the patient exhibited episodic monoarthritis with a remarkable response to colchicine. An analysis of the MEFV gene identified heterozygous variants, L110P and E148Q, thus indicating a colchicine-responsive autoinflammatory condition. The patient was later diagnosed with RA and achieved remission with abatacept and colchicine. This case illustrates that ACPA-positive arthralgia evolves into RA through an autoinflammatory mechanism, thereby underscoring the diagnostic difficulties arising from the convergence of both autoimmune and autoinflammatory characteristics.
SN - 1349-7235
SN - 0918-2918
ER -