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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.



 
 
 

Adult Familial Mediterranean Fever (FMF): is a single MEFV mutation sufficient to cause severe disease?

Article title: Clinical characteristics and outcomes of adult FMF patients: comparison between those with one versus two

pathogenic MEFV exon 10 mutations

First author: Anaël Dumont

Journal: Joint Bone Spine

Author of the abstract: Rim BOURGUIBA


FMF adulte : une seule mutation MEFV suffit‑elle à rendre la maladie sévère ?

Introduction

Familial Mediterranean Fever (FMF) is an autoinflammatory disease caused by mutations in MEFV. While two pathogenic mutations typically lead to a classic and more severe phenotype, the clinical expression in patients with only one pathogenic mutation remains debated. This study compared adult FMF patients according to whether they carried one or two pathogenic MEFV mutations.


Methods

A French single‑center retrospective cohort included 581 adult FMF patients: 178 with a single pathogenic mutation and 403 with two pathogenic mutations. Diagnosis used Eurofever/PRINTO criteria, and all patients underwent MEFV sequencing. A focused analysis compared M694V/E148Q versus M694V/WT.


Results

Compared with biallelic patients, heterozygous patients were older at diagnosis and disease onset, had more personal and family history of recurrent aphthous stomatitis, and a higher BMI. No AA amyloidosis was observed in heterozygotes, and they required lower colchicine doses. These differences remained significant after adjustment for age at onset. No clinical difference was found between M694V/E148Q and M694V/WT.


Conclusion

Adult FMF patients with a single pathogenic MEFV mutation show distinct clinical features and outcomes compared with those carrying two mutations. Findings highlight FMF phenotypic heterogeneity and support tailoring management to the patient’s genetic profile.



 
 
 
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