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2025: A Year Rich in Autoinflammation, FMF, and VEXAS

CEREMAIA Tenon

In 2025, together with the team of the CEREMAIA Reference Center (Tenon Hospital, AP-HP / Sorbonne University), within the FAI2R network and the European Reference Network ERN RITA, we carried out extensive work focused on:


Familial Mediterranean Fever (FMF) and pyrin-associated diseases,

VEXAS syndrome, a prototype of hemato-inflammatory diseases,

AA amyloidosis and other rarer autoinflammatory diseases.


🔬 FMF and pyrin

We contributed to the update of the international EULAR/PReS recommendations for FMF, which incorporate recent advances regarding colchicine resistance and the use of biologic therapies (published in Annals of the Rheumatic Diseases, 2025).


Several studies based on the adult cohort of our reference center explored the following aspects: iron deficiency, liver involvement, FMF onset after the age of 65, the optimal daily dose of colchicine, and patients’ and prescribers’ perceptions of colchicine treatment.


We also conducted biological and genetic research on variants of the MEFV gene and pyrin-associated diseases, as well as on the role of IL-18 as a monitoring biomarker and as a specific signature of diseases involving the pyrin inflammasome.


🧬 VEXAS syndrome

In collaboration with the French VEXAS group and the MINHEMON club:


international reviews and recommendations were developed to structure the diagnosis and management of VEXAS syndrome, including a consensual definition of “flares,” infectious risks, and therapeutic strategies;


studies focused on specific organ involvement (kidney, nervous system, erythroblastopenia), as well as a multicenter study on VEXAS in women and across different ethnic backgrounds.


🧩 AA amyloidosis and other rare autoinflammatory diseases


We participated in a systematic review on AA amyloidosis in inflammatory rheumatic diseases, highlighting the importance of long-term strict control of inflammation.


We authored literature reviews on autoinflammatory actinopathies, A20 haploinsufficiency, and undifferentiated autoinflammatory diseases.


We also published work on diagnostic delay and the clinical presentation of cryopyrin-associated periodic syndromes (CAPS) in adulthood.


🧠 Therapeutic patient education programs

We continued the deployment of our three therapeutic education programs dedicated to AA amyloidosis, cryopyrinopathies (CAPS), and FMF. These programs aim to help patients and their relatives better understand the disease, treatments, monitoring, and warning signs.

In 2025, we notably led a session dedicated to CAPS during the weekend organized in July by the Muckle-Wells / CINCA association, in close collaboration with patient associations.


🎥 Patient webinars and online information

We launched a series of informational webinars for patients and their relatives on FMF, as well as educational videos on rare autoinflammatory diseases (AA amyloidosis, VEXAS syndrome, etc.), freely available on the CEREMAIA Tenon YouTube channel: CEREMAIA Tenon – Patient Webinars. These formats allow us to translate research findings and recommendations into practical messages for patients’ daily lives.


  • All of this work shares a common goal:

  • to better characterize these rare diseases,

  • to refine diagnostic and monitoring strategies,


and ultimately, to provide more personalized and safer care for patients.


We warmly thank the patients, healthcare teams, colleagues from rare disease networks, and international partners for their commitment.


For those who would like to access specific articles in more detail, please feel free to contact us via private message or by email at:

 
 
 

Diagnosis traps for patients with acquired NLRP3 mutation (CAPS)

First author: M. DELPLANQUE et al,

Journal: European Journal of Internal Medicine

Pièges diagnostiques chez les patients atteints d'une mutation acquise de NLRP3 (CAPS)

Summary:

The article highlights the diagnostic challenges of cryopyrin-associated periodic syndromes CAPS, caused by NLRP3 gene mutations. These autoinflammatory diseases include three main forms: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome.

The study presents two cases of patients with acquired somatic NLRP3 mutations, illustrating the difficulty of diagnosis due to atypical phenotypes:

  • Patient 1 (P1): A 46-year-old woman with neuroinflammatory symptoms (persistent headaches, aseptic meningitis, hearing loss), initially misdiagnosed. A somatic M406I mutation was identified after 10 years of diagnostic wandering, explaining her atypical presentation. Treatment with anti-IL-1 drastically improved her condition.

  • Patient 2 (P2): A male patient with severe CINCA syndrome since infancy, presenting with urticaria, arthritis, and growth delay. His genetic diagnosis was challenging, and the M406V mutation was only detected at the age of 15 using deep sequencing techniques.

The authors emphasize that somatic mutations in the NACHT domain of NLRP3 lead to constitutive activation of the inflammasome, resulting in excessive IL-1β production and severe chronic inflammation. The study underscores the importance of advanced genetic sequencing to detect these mutations, particularly in atypical cases.

Conclusion

Identifying somatic mutations in NLRP3 is crucial to avoid misdiagnosis and ensure effective treatment. Diagnostic delays can be prolonged in the absence of classic clinical signs (such as urticaria), and next-generation sequencing is essential for detecting low-percentage mosaicism.



 
 
 
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