Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (894 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A group of hereditary autoinflammation diseases, characterized by recurrent fever, abdominal pain, headache, rash, pleurisy; and arthritis. orchitis; benign meningitis; and amyloidosis may also occur. Homozygous or compound heterozygous mutations in marenostrin gene encoding pyrin result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease also exists with mutations in the same gene.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Periodic Peritonitis; Periodic Peritonitides; Peritonitides, Periodic; Peritonitis, Periodic; Polyserositis, Familial Paroxysmal; Familial Paroxysmal Polyserositides; Paroxysmal Polyserositides, Familial; Paroxysmal Polyserositis, Familial.
Where it fits in the MeSH classification
- Broader topics
- Hereditary Autoinflammatory Diseases
Related concepts
- Hereditary Autoinflammation Diseases
- Pleurisy
- Arthritis
- Orchitis
- Meningitis
- Amyloidosis
- Pyrin
Research landscape
PubMed indexes 4,564 records tagged with the MeSH heading “Familial Mediterranean Fever” (counts retrieved 2026-10-29). 926 of them (20.3%) were published from 2020 onward, and the busiest period so far is through 1999 with 1,277 records.
Reviews account for 570 records (12.5%) and meta-analyses for 14. Randomized controlled trials number 28 (0.6%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 1,277 |
| 2000-2009 | 1,147 |
| 2010-2019 | 1,214 |
| 2020 onward | 926 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 570 | 12.5% |
| Meta-analyses | 14 | 0.3% |
| Randomized controlled trials | 28 | 0.6% |
Method: PubMed query "Familial Mediterranean Fever"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review | 2020 | Review article Design not recorded in structured metadata | 145 | cc by PMID 32806879 · DOI · PMC7672358 |
| Systematic Review of Safety and Efficacy of IL-1-Targeted Biologics in Treating Immune-Mediated Disorders | 2022 | Systematic review Design not recorded in structured metadata | 112 | cc by PMID 35874710 · DOI · PMC9296857 |
| An Update on Familial Mediterranean Fever | 2023 | Review article Design not recorded in structured metadata | 98 | cc by PMID 37298536 · DOI · PMC10253709 |
| Development of a mobile health application to support the management of paediatric FMF | 2026 | Research article Design not recorded in structured metadata | 0 | cc by PMID 42234860 · DOI · PMC13262799 |
Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Familial Mediterranean fever (FMF) (OMIM #249100) is the most common hereditary autoinflammatory disease in the world.
- Closing excerpt
- In this contemporary review, we surveyed current FMF knowledge in the light of these recent advances.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (186 words)
Familial Mediterranean fever (FMF) (OMIM #249100) is the most common hereditary autoinflammatory disease in the world. FMF is caused by gain of function mutations of MEFV gene which encodes an immune regulatory protein, pyrin. Over the last few years, we have witnessed several new developments in the pathogenesis, genetic testing, diagnosis, comorbidities, disease related damage and treatment approaches to FMF. Elucidation of some of the pathogenic mechanisms has led to the discovery of pathways involved in inflammatory, metabolic, cardiovascular and degenerative diseases. The use of next generation sequencing in FMF has revealed many new gene variants whose clinical significance may be clarified by developing functional assays and biomarkers. Clinically, although FMF is considered an episodic disease characterized by brief attacks, recent systematic studies have defined several associated chronic inflammatory conditions. Colchicine is the mainstay of FMF treatment, and interleukin (IL)-1 antagonists are the treatment of choice in refractory or intolerant cases. Experience of IL-1 antagonists, anakinra and canakinumab, is now available in thousands of colchicine resistant or intolerant FMF patients. In this contemporary review, we surveyed current FMF knowledge in the light of these recent advances.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 32806879 · DOI · PMC7672358
Systematic Review of Safety and Efficacy of IL-1-Targeted Biologics in Treating Immune-Mediated Disorders [2]
Abstract reading summary — source excerpts
- Opening excerpt
- BackgroundThe cytokine interleukin (IL)-1 plays a pivotal role in immune-mediated disorders, particularly in autoinflammatory diseases.
- Closing excerpt
- uk/PROSPERO/, identifier CRD42021228547.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (316 words)
BackgroundThe cytokine interleukin (IL)-1 plays a pivotal role in immune-mediated disorders, particularly in autoinflammatory diseases. Targeting this cytokine proved to be efficacious in treating numerous IL-1-mediated pathologies. Currently, three IL-1 blockers are approved, namely anakinra, canakinumab and rilonacept, and two additional ones are expected to receive approval, namely gevokizumab and bermekimab. However, there is no systematic review on the safety and efficacy of these biologics in treating immune-mediated diseases.ObjectiveTo evaluate safety and efficacy of anakinra, canakinumab, rilonacept, gevokizumab, and bermekimab for the treatment of immune-mediated disorders compared to placebo, standard-of-care treatment or other biologics.MethodsThe PRISMA checklist guided the reporting of the data. We searched the PubMed database between 1 January 1984 and 31 December 2020 focusing on immune-mediated disorders. Our PubMed literature search identified 7363 articles. After screening titles and abstracts for the inclusion and exclusion criteria and assessing full texts, 75 articles were included in a narrative synthesis.ResultsAnakinra was both efficacious and safe in treating cryopyrin-associated periodic syndromes (CAPS), familial Mediterranean fever (FMF), gout, macrophage activation syndrome, recurrent pericarditis, rheumatoid arthritis (RA), and systemic juvenile idiopathic arthritis (sJIA). Conversely, anakinra failed to show efficacy in graft-versus-host disease, Sjögren's syndrome, and type 1 diabetes mellitus (T1DM). Canakinumab showed efficacy in treating CAPS, FMF, gout, hyper-IgD syndrome, RA, Schnitzler's syndrome, sJIA, and TNF receptor-associated periodic syndrome. However, use of canakinumab in the treatment of adult-onset Still's disease and T1DM revealed negative results. Rilonacept was efficacious and safe for the treatment of CAPS, FMF, recurrent pericarditis, and sJIA. Contrarily, Rilonacept did not reach superiority compared to placebo in the treatment of T1DM. Gevokizumab showed mixed results in treating Behçet's disease-associated uveitis and no benefit when assessed in T1DM. Bermekimab achieved promising results in the treatment of hidradenitis suppurativa.ConclusionsThis systematic review of IL-1-targeting biologics summarizes the current state of research, safety, and clinical efficacy of anakinra, bermekimab, canakinumab, gevokizumab, and rilonacept in treating immune-mediated disorders.Systematic review registrationhttps://www.crd.york.ac.uk/PROSPERO/, identifier CRD42021228547.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 35874710 · DOI · PMC9296857
An Update on Familial Mediterranean Fever [3]
Abstract reading summary — source excerpts
- Opening excerpt
- (1) Background: Familial Mediterranean Fever (FMF) is the prototypal autoinflammatory disease, characterized by recurrent bursts of neutrophilic inflammation.
- Closing excerpt
- (4) Conclusions: Overall, this review presents the all the main aspects, including real life outcome of the latest recommendation on treatment resistance of FMF, a disease, that not only helped understanding the pathophysiology of the auto inflammatory process but also the functioning of the innate immune system itself.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (155 words)
(1) Background: Familial Mediterranean Fever (FMF) is the prototypal autoinflammatory disease, characterized by recurrent bursts of neutrophilic inflammation. (2) Methods: In this study we look at the most recent literature on this condition and integrate it with novel information on treatment resistance and compliance. (3) Results: The canonical clinical presentation of FMF is in children with self-limited episodes of fever and polyserositis, associated with severe long-term complications, such as renal amyloidosis. It has been described anecdotally since ancient times, however only recently it has been characterized more accurately. We propose an updated overview on the main aspects of pathophysiology, genetics, diagnosis and treatment of this intriguing disease. (4) Conclusions: Overall, this review presents the all the main aspects, including real life outcome of the latest recommendation on treatment resistance of FMF, a disease, that not only helped understanding the pathophysiology of the auto inflammatory process but also the functioning of the innate immune system itself.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 37298536 · DOI · PMC10253709
Development of a mobile health application to support the management of paediatric FMF [4]
Abstract reading summary — source excerpts
- Opening excerpt
- ObjectiveFMF is highly prevalent in Mediterranean countries and represents a substantial proportion of paediatric rheumatology patients.
- Closing excerpt
- ConclusionMobile reminder applications are low-cost, accessible digital health tools with strong potential to enhance medication adherence in FMF patients.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (237 words)
ObjectiveFMF is highly prevalent in Mediterranean countries and represents a substantial proportion of paediatric rheumatology patients. Colchicine, the mainstay of treatment, requires lifelong daily use, yet long-term adherence remains challenging, leading to recurrent attacks and increased healthcare burden. This study aimed to develop a freely downloadable mobile application to improve medication adherence by providing reminders and enabling direct communication with physicians.MethodsThe application was designed as a structured medication-timing and monitoring tool, providing time-specific medication reminders, real-time intake confirmation ('taken/missed') and digital adherence tracking. The user interface was tailored to the needs of patients and parents, considering children's attention span, parental workload and health literacy. Following pilot testing in seven volunteer patients, the application was refined based on user feedback. Physicians used a web-based panel to register patients, define prescriptions and treatment schedules, and assign calendar-based appointments. Medication adherence was assessed using the MASIF scale, and disease activity was evaluated using the AIDAI score. A total of 93 patients with FMF were included in the study.ResultsBefore application use, adherence was low, with a median MASIF score of 44 and most patients demonstrating poor adherence. After implementation, MASIF scores significantly improved at 3, 6 and 12 months, with a marked reduction in poorly adherent patients (P 9 during follow-up. Agreement between application-measured adherence and MASIF scores was excellent (ICC > 0.90).ConclusionMobile reminder applications are low-cost, accessible digital health tools with strong potential to enhance medication adherence in FMF patients.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42234860 · DOI · PMC13262799
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Familial Mediterranean fever. A survey of 470 cases and review of the literature [5]
- Research article Familial Mediterranean fever [6]
- Research article EULAR recommendations for the management of familial Mediterranean fever [7]
- Research article The spectrum of Familial Mediterranean Fever (FMF) mutations [8]
- Research article The NLRC4 Inflammasome [9]
- Research article The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder [10]
References
- Tufan A, Lachmann HJ. Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review. . 2020. PMID 32806879 · DOI · PMC7672358
- Arnold DD, Yalamanoglu A, Boyman O. Systematic Review of Safety and Efficacy of IL-1-Targeted Biologics in Treating Immune-Mediated Disorders. . 2022. PMID 35874710 · DOI · PMC9296857
- Lancieri M, Bustaffa M, Palmeri S, Prigione I, Penco F, Papa R, et al.. An Update on Familial Mediterranean Fever. . 2023. PMID 37298536 · DOI · PMC10253709
- Bayrak YE, Özcan H, Pir F, Şahin N, Aydın D, Sönmez HE. Development of a mobile health application to support the management of paediatric FMF. . 2026. PMID 42234860 · DOI · PMC13262799
- Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med. 1967. PMID 5340644 · DOI
- Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet. 1998. PMID 9500348 · DOI
- Ozen S, Demirkaya E, Erer B, Livneh A, Ben-Chetrit E, Giancane G, et al.. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016. PMID 26802180 · DOI
- Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet. 2001. PMID 11464238 · DOI
- Duncan JA, Canna SW. The NLRC4 Inflammasome. Immunol Rev. 2018. PMID 29247997 · DOI · PMC5897049
- Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, et al.. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore). 2002. PMID 12352631 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
See how EvidenceLib is built. Spotted an error? Email support@evidencehelix.com.
Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.