Anti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review.
Kazuhiro Itoh, Hiroshi Tsutani, Nozomi Otsuki et al.
✦ AI-curated · Sources linked
Case in brief
A 42-year-old woman had arthralgia with positive anti-citrullinated protein antibodies and rheumatoid factor but did not initially meet criteria for rheumatoid arthritis. She later developed episodic monoarthritis that responded markedly to colchicine. MEFV testing identified heterozygous L110P and E148Q variants, supporting a colchicine-responsive autoinflammatory condition. She was subsequently diagnosed with rheumatoid arthritis and achieved remission with abatacept and colchicine.
What made this case unusual
The presentation combined rheumatoid arthritis-associated antibodies with episodic, colchicine-responsive monoarthritis and MEFV variants, creating overlapping autoimmune and autoinflammatory features.
Diagnostic / clinical pearl
In antibody-positive arthralgia with episodic monoarthritis, a marked colchicine response and MEFV variants may point to an autoinflammatory component, even when rheumatoid arthritis is not initially established.