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Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: A comprehensive review of cases across different ethnicities

First author: Yixiang Yves-Jean Zhu

Journal: European Journal of Internal Medicine


VEXAS syndrome: A comprehensive review of cases across different ethnicities

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a rare autoinflammatory disease associated with somatic pathogenic variants in the UBA1 gene. First described in 2020, it has since been reported in many countries, but its distribution across the world remained unclear. We conducted a literature review between October 2020 and April 2025, identifying more than 670 cases across 32 countries and 4 continents. Among patients with documented origins, several ethnic groups were represented, including Caucasian, East and South Asian, Middle Eastern, and South American. These findings confirm that VEXAS syndrome diverse ethnic backgrounds and has a broad worldwide distribution. It is therefore crucial to consider VEXAS in patients with compatible symptoms, regardless of their country or ancestry, to avoid diagnostic delays.



 
 
 

Unmasking Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): diagnostic pitfalls of de novo mutations.

First author: Yixiang Yves-Jean Zhu

Journal: The Journal of Allergy and Clinical Immunology: In Practice


Unmasking Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): diagnostic pitfalls of de novo mutations

Tumor necrosis factor receptor–associated periodic syndrome (TRAPS) is a rare genetic autoinflammatory disease associated with pathogenic variants in the TNFRSF1A gene. It usually runs in families through autosomal dominant inheritance, but can also appear sporadically when a de novo vriant occurs. We report 14 cases of TRAPS due to de novo variants, including 2 new French patients and 12 previously published cases. These patients faced a median diagnostic delay of 13 years, with recurrent flares lasting around 11 days, typically involving fever, abdominal pain, and joint pain. None presented with migratory myalgias or periorbital edema. The rarity of the disease, the nonspecific symptoms, and the absence of family history make the diagnosis particularly challenging. Clinicians should be aware that long-lasting unexplained inflammatory flares point to TRAPS, even in patients without a family history.



 
 
 

EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update

First author : Ozen S

Review: Annals of the Rheumatic Diseases

Reference: Ann Rheum Dis. 2025 Apr 9:S0003-4967(25)00084-6

Link to pubmed: EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update - PubMed

Recommandations approuvées par l’EULAR et la PReS pour la FMF

2024 European Recommendations on Familial Mediterranean Fever (FMF) – Summary:


Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide. Due to its clinical and genetic variability, specialized management is essential. In 2024, the EULAR and PReS societies updated their guidelines.


General Principles:

  • FMF requires specialist expertise for both diagnosis and management.

  • The primary goal is complete control of inflammation, including subclinical inflammation, to prevent complications such as AA amyloidosis.

  • Lifelong treatment is necessary, with strict adherence, primarily based on daily colchicine therapy.

  • Care should be patient-centered, aiming to preserve quality of life.


Key Recommendations:

  • Colchicine should be initiated as soon as a clinical diagnosis is made.

  • The dosage must be tailored to tolerance and adherence (single or divided daily doses).

  • If symptoms persist or subclinical inflammation remains, the dose should be increased within recommended limits (maximum 2 mg/day in children, 3 mg/day in adults).

  • If colchicine fails despite good adherence, interleukin-1 blockers (anakinra, canakinumab) are recommended.

  • Chronic musculoskeletal manifestations may require additional treatments (DMARDs, biologics).

  • Regular monitoring (clinical, biological, toxicity, adherence) is essential.

  • Colchicine should be continued during pregnancy and breastfeeding.

  • During acute attacks, colchicine should be maintained at the same dose, with symptomatic treatment added (e.g., NSAIDs).

  • A minimum core set of assessment criteria is proposed: attack frequency, quality of life, biological markers (CRP, SAA).


Quality indicators, clinical priorities (especially adherence), and implementation strategies are provided to harmonize care across centers.



 
 
 
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