Mistakes in Familial Mediterranean Fever and how to avoid them

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Mistakes in Familial Mediterranean Fever and how to avoid them

Manik Gemilyan, Gagik Hakobyan

Summary

AI Generated

Familial Mediterranean fever is a prototypical autoinflammatory disorder caused by innate immune dysfunction, diagnosed clinically, and effectively treated with lifelong colchicine monotherapy.

FMF is a monogenic disease with autosomal recessive inheritance characterized by unprovoked episodes of inflammation due to dysfunction of innate immunity.
Although rare worldwide, FMF is prevalent in people of Mediterranean origin but patients can be encountered globally in the modern world.
Diagnosis remains largely clinical and genetic testing has important limitations.
Lifelong monotherapy with colchicine is well-established as effective in preventing both attacks and complications.

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This summary was generated by an AI large language model based on the content transcript. It is for informational purposes only and should not be considered a substitute for clinical judgment. Always rely on your professional expertise and the full clinical context when making clinical decisions.

References

Mistakes

References

Mistake 1 Mistake 2 Mistake 3 Mistake 4 Mistake 5 Mistake 6 Mistake 7 Mistake 8

Ben-Chetrit E, Gattorno M, Gul A, et al. Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study. Ann Rheum Dis 2018; 77: 1558–1565. [Link]

Giancane G, Ter Haar NM, Wulffraat N, et al. Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. Ann Rheum Dis 2015; 74: 635–641. [Link]

Ozen S, Sağ E, Oton T, et al. EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update. Ann Rheum Dis 2025; 84: 899-909. [Link]

Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial mediterranean fever. Arthritis Rheum 1997; 40: 1879–1885. [Link]

Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis 2016; 75: 644–651. [Link]

Georgin-Lavialle S, Savey L, Cuisset L, et al. French protocol for the diagnosis and management of familial Mediterranean fever. Rev Médecine Interne 2023; 44: 602–616. [Link]

The French Fmf Consortium, Bernot A, Clepet C, et al. A candidate gene for familial Mediterranean fever. Nat Genet 1997; 17: 25–31. [Link]

Booty MG, Chae JJ, Masters SL, et al. Familial mediterranean fever with a single MEFV mutation: Where is the second hit? Arthritis Rheum 2009; 60: 1851–1861. [Link]

Infevers: an online database for autoinflammatory mutations. https://infevers.umai-montpellier.fr/ (accessed 20 May 2025). [Link]

10.

Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405–424. [Link]

11.

Gattorno M, Hofer M, Federici S, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis 2019; 78: 1025–1032. [Link]

12.

Mertz P, Boursier G, Hentgen V, et al. New Diseases Linked to MEFV Variants or Pyrinopathies. J Allergy Clin Immunol Pract 2025; 13: 522–532. [Link]

13.

Otón T, Sağ E, Carmona L, et al. Safety of colchicine on fertility, pregnancy, and lactation: a systematic review and meta-analysis informing the EULAR/PReS recommendations for familial Mediterranean fever. Ann Rheum Dis 2025; 84: 1045-1051. [Link]

14.

Gemilyan M, Hakobyan G, Ananyan S. Long-term familial Mediterranean fever remission on successful hepatitis C virus treatment in a patient not responding to colchicine: a case report. J Med Case Reports 2018; 12: 130. [Link]

15.

Hansten PD, Tan MS, Horn JR, et al. Colchicine Drug Interaction Errors and Misunderstandings: Recommendations for Improved Evidence-Based Management. Drug Saf 2023; 46: 223–242. [Link]

16.

Familial Mediterranean Fever (FMF) in Turkey: Results of a Nationwide Multicenter Study. Medicine (Baltimore) 2005; 84: 1–11. [Link]

Abstract

Familial Mediterranean fever (FMF), also called periodic disease, Armenian disease, etc., is a prototypical autoinflammatory disorder where the underlying mechanism is the dysfunction of innate immunity, resulting in unprovoked episodes of inflammation.¹ Although considered rare worldwide, it is prevalent in people of Mediterranean origin; however, one can expect to encounter patients in all parts of the modern world. FMF is a monogenic disease with autosomal recessive inheritance.² Unlike other monogenic disorders, the diagnosis remains largely clinical, and it is important to understand the limitations of genetic testing. Another distinguishing feature is the well-established effectiveness of lifelong monotherapy with colchicine in preventing attacks and complications.³

Topics

Primary Care

Published

2025

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