Familial Mediterranean fever: What associations to screen for?

Salem Bouomrani1,2, Ines Masmoudi1,2, Sawssan Ben Teber1,2

  • 1Sfax Faculty of Medicine, University of Sfax, Tunisia.

Reumatologia
|July 21, 2020
PubMed

Insights

Familial Mediterranean fever (FMF), a common genetic autoinflammatory disorder, is frequently linked with other autoimmune and genetic conditions. Early detection of these associations improves patient management and outcomes.

Area of Science:

  • Genetics
  • Immunology
  • Internal Medicine

Background:

  • Familial Mediterranean fever (FMF) is the most prevalent hereditary recurrent fever syndrome.
  • Genetically characterized in 1992, FMF results from MEFV gene mutations.
  • Prevalence is high in specific populations, including Sephardic Jews, Armenians, Turks, and Middle Eastern Arabs.

Purpose of the Study:

  • To review the common associations of FMF with other diseases.
  • To inform healthcare professionals about conditions frequently co-occurring with FMF.
  • To emphasize the importance of early detection for improved patient care.

Main Methods:

  • Literature review of recent publications on FMF associations.
  • Synthesis of information on autoimmune, genetic, and autoinflammatory conditions linked to FMF.
  • Focus on clinical relevance for healthcare professionals.

Main Results:

  • FMF is often associated with other autoimmune, genetic, and autoinflammatory diseases.
  • Identification of specific co-occurring conditions is crucial for comprehensive patient assessment.
  • Early recognition of these associations impacts treatment strategies.

Conclusions:

  • Healthcare professionals managing FMF patients should be aware of potential associated conditions.
  • Screening for associated diseases can lead to better patient outcomes.
  • Understanding FMF comorbidities enhances the overall management of the disorder.

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...
306
Myocarditis II: Clinical Features and Diagnostic Tests01:27

Myocarditis II: Clinical Features and Diagnostic Tests

Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
161
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...
15.1K
Pericarditis II: Clinical Features and Diagnostic Tests01:19

Pericarditis II: Clinical Features and Diagnostic Tests

Pericarditis is distinguished by inflammation of the pericardium, the fibrous sac that encases the heart. It can be acute, lasting less than six weeks, or chronic, persisting for over three months. Understanding its clinical manifestations and diagnostic findings is crucial for timely and effective management.Clinical ManifestationsWhile pericarditis can be asymptomatic, it usually presents with characteristic symptoms such as:Chest Pain: The most characteristic symptom of pericarditis is chest...
196
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
612