Different disease subtypes with distinct clinical expression in familial Mediterranean fever: results of a cluster
Servet Akar1, Dilek Solmaz2, Timucin Kasifoglu3
1Division of Rheumatology, Izmir Kâtip Çelebi University School of Medicine, Izmir, servet.akar@gmail.com.
Objective:
The aim of this study was to evaluate whether there are clinical subgroups that may have different prognoses among FMF patients.
Methods:
The cumulative clinical features of a large group of FMF patients [1168 patients, 593 (50.8%) male, mean age 35.3 years (s.d. 12.4)] were studied. To analyse our data and identify groups of FMF patients with similar clinical characteristics, a two-step cluster analysis using log-likelihood distance measures was performed. For clustering the FMF patients, we evaluated the following variables: gender, current age, age at symptom onset, age at diagnosis, presence of major clinical features, variables related with therapy and family history for FMF, renal failure and carriage of M694V.
Results:
Three distinct groups of FMF patients were identified. Cluster 1 was characterized by a high prevalence of arthritis, pleuritis, erysipelas-like erythema (ELE) and febrile myalgia. The dosage of colchicine and the frequency of amyloidosis were lower in cluster 1. Patients in cluster 2 had an earlier age of disease onset and diagnosis. M694V carriage and amyloidosis prevalence were the highest in cluster 2. This group of patients was using the highest dose of colchicine. Patients in cluster 3 had the lowest prevalence of arthritis, ELE and febrile myalgia. The frequencies of M694V carriage and amyloidosis were lower in cluster 3 than the overall FMF patients. Non-response to colchicine was also slightly lower in cluster 3.
Conclusion:
Patients with FMF can be clustered into distinct patterns of clinical and genetic manifestations and these patterns may have different prognostic significance.
Insights
Three distinct patient groups were identified in Familial Mediterranean Fever (FMF). These subgroups exhibit varied clinical and genetic traits, suggesting different prognoses for FMF patients.
Area of Science:
- Rheumatology
- Genetics
- Internal Medicine
Background:
- Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder.
- Understanding clinical heterogeneity in FMF is crucial for prognosis.
Purpose of the Study:
- To identify distinct clinical subgroups within FMF patients.
- To investigate potential differences in prognosis among these subgroups.
Main Methods:
- A cohort of 1168 FMF patients was analyzed.
- Two-step cluster analysis was performed using clinical and genetic variables.
- Variables included demographics, disease onset, clinical features, therapy, and M694V genotype.
Main Results:
- Three distinct FMF patient clusters were identified.
- Cluster 1: Lower amyloidosis/colchicine dose, higher arthritis/pleuritis/ELE.
- Cluster 2: Earlier onset, highest M694V/amyloidosis, highest colchicine dose.
- Cluster 3: Lowest arthritis/ELE, lower M694V/amyloidosis, lower colchicine non-response.
Conclusions:
- FMF patients can be classified into distinct clinical and genetic patterns.
- These identified patterns may hold prognostic significance for disease outcomes.
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