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Palindromic rheumatism: Evidence of four subtypes of palindromic-like arthritis based in either MEFV or rheumatoid
Andrea Cuervo1, Raimon Sanmartí1, Julio Ramírez1
1Hospital Clínic, Arthritis Unit, Department of Rheumatology, University of Barcelona and IDIBAPS, Barcelona, Spain.
Introduction:
MEFV mutations have been documented in patients with palindromic rheumatism (PR) who do not meet FMF criteria, and RF and ACPA positive RA may start with PR.
Objective:
To analyze the clinical phenotype and disease evolution of patients with intermittent, palindromic-like (PL) arthritis seen in our Arthritis Unit according to the RF, ACPA and MEFV mutation status.
Methods:
MEFV genotyping was done in 76 patients with PL arthritis as defined by predominantly short attacks (≤7days) and a relapsing course. Characteristics of arthritic episodes, RF and ACPA positivity, and the colchicine response were retrospectively collected. Patients were stratified and evaluated according to MEFV mutations and/or positive autoantibodies (ACPA and/or RF).
Results:
Among the patients, 26.3% (20/76) had a MEFV mutation and 23 (30%) were ACPA and/or RF positive. MEFV mutations and/or autoantibody status allowed four PL arthritis patients to be distinguished: group I (MEFV+), with younger age of onset, short duration attacks (<3days), mainly located in the knee, more frequent non-articular manifestations (fever, pericarditis or abdominal pain) and good response to colchicine; group II (autoantibody+) is older than group I, with the same frequency of short attacks, but the most affected joints were the wrists and small joints of hands: 48% met RA classification criteria during follow-up and were taking DMARDs; group III (MEFV- and autoantibody-) was the most frequent (48%) and clinically heterogeneous group; 51% had attacks lasting>3days, and 15 patients developed criteria of immune-mediated inflammatory, autoinflammatory or infectious diseases. Group IV (MEFV+ associated with preexisting immune-inflammatory disease), was associated with very short attacks, like groups I and II, superimposed or coincident with definite immune-inflammatory disease, including seropositive RA, with good response to colchicine.
Conclusions:
Patients with PL arthritis can be classified in four groups according to the presence or not of MEFV mutations and ACPA/RF antibodies with a different clinical evolution and therapeutic response.
Insights
This study identifies four distinct patient groups with palindromic-like arthritis based on MEFV mutations and autoantibodies, revealing varied clinical courses and treatment responses for better patient stratification.
Area of Science:
- Rheumatology
- Genetics
- Immunology
Background:
- Palindromic rheumatism (PR) and palindromic-like (PL) arthritis can present in patients without fulfilling criteria for Familial Mediterranean Fever (FMF).
- Rheumatoid arthritis (RA) with positive rheumatoid factor (RF) and anti-citrullinated protein antibodies (ACPA) may originate from PR.
- Understanding the genetic and immunological underpinnings of PL arthritis is crucial for accurate diagnosis and management.
Purpose of the Study:
- To analyze the clinical phenotype and disease progression of patients with intermittent, palindromic-like (PL) arthritis.
- To stratify these patients based on their MEFV mutation status and autoantibody positivity (RF, ACPA).
- To correlate these classifications with clinical evolution and therapeutic responses.
Main Methods:
- MEFV genotyping was performed on 76 patients diagnosed with PL arthritis.
- Clinical data including arthritic episode characteristics, RF and ACPA positivity, and colchicine response were retrospectively collected.
- Patients were categorized into four groups based on MEFV mutations and/or autoantibody status.
Main Results:
- 26.3% of patients had MEFV mutations, and 30% were positive for ACPA and/or RF.
- Four distinct patient groups emerged: MEFV mutation-positive (younger onset, short attacks, non-articular symptoms, good colchicine response), autoantibody-positive (older, wrist/hand involvement, 48% meeting RA criteria), double-negative (most frequent, heterogeneous, longer attacks), and MEFV-positive with pre-existing immune-inflammatory disease (short attacks, good colchicine response).
- Significant differences in clinical presentation, disease course, and treatment response were observed among the four groups.
Conclusions:
- Patients with PL arthritis can be effectively classified into four distinct groups based on the presence of MEFV mutations and ACPA/RF antibodies.
- This classification highlights significant variations in clinical evolution and therapeutic response among these groups.
- The findings support a more personalized approach to managing PL arthritis based on genetic and immunological profiles.
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