A rare case of VEXAS syndrome - Letter to the Editor (Case report)

Sep 28, 2026

Letter to the Editor presents a rare VEXAS syndrome case in a 77-year-old man with abrupt-onset migratory painful swollen joints, subcutaneous nodules and bruises, lace-like thigh rash, intermittent fevers and weight loss, plus ear swelling and oral ulcer. Imaging suggested mild lymphadenopathy and a new lung nodule, while biopsy supported small-to-medium vessel vasculitis and subsequent anterior uveitis. Severe macrocytic anemia with negative autoimmune screen led to genetic testing confirming UBA1 variant p.Met41Thr (c.122T>C), with treatment using corticosteroids and methotrexate, and discussion of transplant candidacy.

LanguageEnglish

CategoryHealthcare

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A rare case of VEXAS syndrome

Clinical presentation and diagnostic workup

Pathology findings

Treatment and follow-up

Letter to the Editor (Case report) A rare case of VEXAS syndrome Karishma Gupta 1, 􀀃 , Shawki El-Ghazali2, Faris Kubba 3 1 Internal Medicine, London North West University Healthcare NHS Trust, London, UK 2 Rheumatology, London North West University Healthcare NHS Trust, London, UK 3 Histopathology, London North West University Healthcare NHS Trust, London, UK 􀀃 Correspondence to: Karishma Gupta, Internal Medicine, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK. E-mail: [karishmamgupta@gmail.com](karishmamgupta@gmail.com) DEAR EDITOR, Autoinflammatory disorders have been studied extensively over the past few decades. Unlike autoimmune disorders, which affect adaptive immunity, autoinflammatory disorders involve the innate immune system. A novel autoinflammatory disorder, first described in 2020, is vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome [1]. This monogenic syndrome, involving the UBA1 gene, predominantly affects adult men [2]. It combines clinical features of both rheumatologic and haematologic conditions. Below, we describe the clinical diagnosis and management of a case we encountered in our practice. A 77-year-old male presented with a month-long history of abrupt-onset symptoms, including transient painful swollen joints, migratory painful subcutaneous nodules and bruises (Supplementary Fig. S1, available at Rheumatology Advancesin Practice online), a lace-like rash on the thighs, intermittent shivering and fevers and weight loss. His skin lesions, consistent with panniculitis, healed with residual hyperpigmentation. These fluctuating symptoms, developing without triggers, corresponded with changes in inflammatory markers. Additionally, he experienced swelling of the right ear (sparing the earlobe) and an oral ulcer (Supplementary Fig. S2, available at Rheumatology Advances in Practice online) . Relapsing polychondritis was considered as a likely cause for his ear symptoms, while his skin lesions suggested erythema nodosum or sarcoidosis. He later developed bilateral eye redness, diagnosed as anterior uveitis. Blood tests revealed severe macrocytic anaemia with normal B12 and folate levels, a negative autoimmune screen and elevated beta-2 glycoprotein IgM, IgE, complement C4 and cardiolipin IgM antibodies. His angiotensin-converting enzyme and calcium levels were normal. A CT scan of the neck, chest, abdomen and pelvis with contrast showed mildly enlarged right hilar lymph nodes, a couple of prominent stable left paratracheal lymph nodes and a new 5-mm left lower lung nodule. The lung multidisciplinary team recommended a follow-up CT scan in 3 months. A bone marrow biopsy did not reveal any primary haematological diagnosis. Two skin punch biopsies from his lesions were sampled. The left arm showed mild superficial perivascular lymphocytic infiltrate with some neutrophils and red cell extravasation (Fig. 1A) . A small arteriole in the subcutis showed obliterated lumen and infiltration of its muscular wall by neutrophil polymorphsand a crushed small lymphocytic infiltrate was seen in the subcutis (Fig. 1B and C) . Appearances supported a small to medium-sized vessel vasculitis. The punch biopsy from the left ear showed very mild superficial perivascular lymphoplasmacytic infiltrate. The cartilage was viable (Fig. 1D) . The patient was started on a tapering course of systemic steroids: prednisolone 30 mg once daily (OD) for 7 days, then 20 mg OD for 14 days, 15 mg OD for 14 days, 10 mg OD for 14 days and then decreased to 5 mg for 14 days and stopped. He had shown significant improvement in the symptoms of polychondritis and anaemia while on steroids. As the patient was initially diagnosed to be a case of undifferentiated inflammatory syndrome, he was started on treatment with methotrexate to reduce steroid dependency; he received methotrexate 20 mg weekly with folic acid supplementation. However, his symptoms recurred on stopping the prednisolone, thus he was resta

FAQs

What initial symptoms prompted evaluation in this VEXAS syndrome case?

The patient had a month-long history of abrupt-onset migratory painful swollen joints, subcutaneous nodules and bruises, a lace-like thigh rash, intermittent shivering and fevers, and weight loss.

What diagnostic tests confirmed VEXAS syndrome in the report?

Genetic screening identified a UBA1 variant, p.Met41Thr (c.122T>C). Biopsies and blood tests supported an inflammatory process prior to genetic confirmation.

How was the patient treated, and what was the management outcome?

He received a tapering course of systemic prednisolone with methotrexate to reduce steroid dependence. Symptoms recurred after stopping prednisolone, so low-dose prednisolone and methotrexate were restarted, leading to stability with minimal or no flares.

Sep 28, 2026

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