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Relapsing polychondritis and familial Mediterranean fever--an association
Edward B Miller1, Joshua A Friedman, Yonatan Lahav
1Division of Rheumatology, Department of Internal Medicine D, Kaplan Medical Center affiliated with the Hebrew University School of Medicine, POB 1, Rehovot, Israel. Edward_m@clalit.org.il
Abstract:
Relapsing polychondritis (RP) and familial Mediterranean fever (FMF) are systemic inflammatory disorders with seemingly distinct genetic and pathophysiologic mechanisms. An association between these disorders has been described based on a single case report with few clinical details available. We recently encountered a patient with biopsy-proven RP and genetically confirmed FMF. Following identification of this individual, we conducted a retrospective review of all cases of RP in our institution from 2000-2009 and identified one additional patient with RP who is also a genetic heterozygote for FMF. These cases highlight the previously reported but sparsely documented relationship between these seemingly separate disorders.
Insights
Relapsing polychondritis (RP) and familial Mediterranean fever (FMF) are rare systemic inflammatory diseases. This study identified two patients with both RP and FMF, suggesting a potential link between these distinct conditions.
Area of Science:
- Rheumatology and Immunology
- Genetics and Pathophysiology
Background:
- Relapsing polychondritis (RP) and familial Mediterranean fever (FMF) are distinct systemic inflammatory disorders.
- Previous reports suggest a potential association between RP and FMF, but with limited clinical data.
Observation:
- Two patients with biopsy-proven RP and genetically confirmed FMF were identified.
- One patient had FMF heterozygosity, indicating a genetic link.
Findings:
- The study identified two cases linking relapsing polychondritis and familial Mediterranean fever.
- These findings support a sparsely documented relationship between these seemingly separate disorders.
Implications:
- Highlights a potential connection between RP and FMF, warranting further investigation.
- Suggests genetic factors may play a role in the co-occurrence of these inflammatory conditions.
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