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

Reference: https://doi.org/10.1016/j.ejim.2025.05.023

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.

(VEXAS) syndrome: A comprehensive review of cases across different ethnicities.pdf

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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

Reference: https://doi.org/10.1016/j.jaip.2025.07.017

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.

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Living with Familial Mediterranean Fever (FMF): what helps you cope better?

Article title: The effects of self-efficacy in managing the disease and disease adaptation levels of Familial Mediterranean

Fever (fmf) patients on satisfaction with life: a web-based cross-sectional study

First author: Demir RN

Journal: Orphanet Journal of Rare Diseases

Link to the article: https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03931-w

Author of the abstract: Rim BOURGUIBA

Abstract

Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease in the world. It is characterized by recurrent inflammatory episodes of fever, abdominal pain, chest pain, and joint pain. Treatment is based on colchicine as first-line therapy, with biotherapy sometimes necessary. In addition to medical management, patients' ability to adapt to chronic disease and their sense of self-efficacy, defined as their feeling of personal effectiveness in managing the disease, can influence their quality of life. The objective of this study was to evaluate the impact of self-efficacy in FMF management and levels of adaptation to the disease on the satisfaction/quality of life of patients with FMF.

Methods:

A cross-sectional observational study was conducted using an online questionnaire distributed on Facebook and Instagram (FMF patient groups) between February and April 2024. The authors included adult Turkish patients (≥18 years old) who had been diagnosed at least one year prior.

The assessment tools used were:

- Self-Efficacy Scale for Chronic Disease (6 items).

- Adaptation to Chronic Illness Scale (25 items: physical, psychological, and social adaptation).

- Satisfaction With Life Scale.

Results

In this study of 423 adult Turkish patients with FMF, there was a predominance of females (73.8%), with ages ranging from 32 to 45 years. A disease duration of 21 years or more was reported in 38.3% of patients. The average self-efficacy score in disease management was relatively high (4.67/10). Adaptation to the disease was moderate overall (3.10/5), with better physical adaptation (3.36), followed by psychological adaptation (2.92) and social adaptation (2.87). Life satisfaction was below average (2.68/5). The correlation study revealed positive and significant associations between self-efficacy and adaptation (r = 0.532), between self-efficacy and life satisfaction (r = 0.417), and between adaptation and life satisfaction (r = 0.564) (Table 1). Regression analysis showed that self-efficacy explained 17.4% of the variance in life satisfaction, while adaptation to the disease explained 31.8%, confirming their decisive role in the self-management of FMF on quality of life (Table 2).

Conclusion

This study shows that in patients with FMF, self-efficacy and adaptation to the disease directly influence the overall low quality of life in this population. Strengthening therapeutic education and psychosocial support appears essential to improving the quality of life of adult patients with FMF.

Table 1: Correlation study between self-efficacy and quality of life in FMF patients

Table 2: Regression analysis of self-efficacy on quality of life and disease management

Vivre avec la fièvre méditerranéenne familiale : qu’est-ce qui aide à mieux s’en sortir.pd

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