Coexistence of familial Mediterranean fever and rheumatoid arthritis

Kiyoshi Migita1, Seigo Abiru, Osamu Sasaki

  • 1Department of Rheumatology, Clinical Research Center, NHO National Nagasaki Medical Center , Kubara 2-1001-1, Omura 856-8652 , Japan.

Modern Rheumatology
|November 23, 2013
PubMed

Insights

Familial Mediterranean fever (FMF), a rare autoinflammatory disorder, co-occurred with rheumatoid arthritis (RA) in a Japanese patient. Colchicine treatment proved effective for managing FMF symptoms in this unique case.

Area of Science:

  • Rheumatology
  • Genetics
  • Immunology

Background:

  • Familial Mediterranean fever (FMF) is an autoinflammatory disease causing recurrent fever, polyserositis, and arthritis.
  • While seronegative spondyloarthropathy is known to occur with FMF, its coexistence with rheumatoid arthritis (RA) is exceptionally rare.

Observation:

  • This case report details a Japanese female diagnosed with rheumatoid arthritis who experienced periodic fevers.
  • The patient presented with symptoms suggestive of FMF alongside her established RA diagnosis.

Findings:

  • Genetic analysis identified compound heterozygous mutations in the MEFV gene (E148Q/G304R/P369S/R408Q) in the patient.
  • These mutations are associated with Familial Mediterranean fever.

Implications:

  • This case highlights the rare co-occurrence of FMF and RA, expanding the clinical spectrum of both conditions.
  • Successful colchicine treatment in this patient suggests its potential efficacy for managing FMF in the context of RA.
  • Further research into the genetic and clinical interplay between FMF and RA may be warranted.

Related Concept Videos

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
1.3K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.7K
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
1.0K
Rheumatic Heart Disease III: Medical Management01:21

Rheumatic Heart Disease III: Medical Management

Rheumatic heart disease (RHD) management can be divided into two main strategies: prevention and long-term management.Primary PreventionPrimary prevention focuses on timely diagnosis and management of group A streptococcal pharyngitis to prevent acute rheumatic fever. The most widely used antibiotic for treating this condition is intramuscular benzathine penicillin G.Acute Rheumatic Fever TreatmentThe primary treatment goal for a patient diagnosed with acute rheumatic fever is to suppress the...
548
Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
2.4K
Pericarditis I: Introduction01:22

Pericarditis I: Introduction

Pericarditis is defined as the inflammation of the pericardium, the thin, sac-like membrane surrounding the heart. This condition can cause significant chest pain and other symptoms, often necessitating medical intervention. The pericardium has two layers: the inner visceral layer and the outer parietal layer, separated by a small amount of fluid that reduces friction during heartbeats.Types of PericarditisPericarditis can be classified into several types based on the duration and nature of the...
762