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Article

Anti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review.

Internal medicine (Tokyo, Japan) - 1 Sept 2026

Itoh Kazuhiro, Tsutani Hiroshi, Otsuki Nozomi, Kuwata Atsushi, Kiriba Chiyo, Urasaki Yoshimasa, Ikawa Masamichi, Iwasaki Hiromichi, Mitsuke Yasuhiko

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Humans
Female
Adult
Arthralgia
Anti-Citrullinated Protein Antibodies
Heterozygote

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Pyrin

Arthritis, Rheumatoid

Colchicine

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 41621873
DOI: 10.2169/internalmedicine.6634-25
PMCID: PMC13627500

Genes

MEFV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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