Vacuoles, E1
enzyme, X-linked, autoinflammatory, somatic (
VEXAS) syndrome is caused by mutations in the
ubiquitin-activating enzyme1 (UBA1) gene and characterised by an overlap between autoinflammatory and haematologic disorders.
CASE PRESENTATION: We reported a case of a 67-year-Japanese man receiving
peritoneal dialysis (PD) who had recurrent aseptic
peritonitis caused by the
VEXAS syndrome. He presented with unexplained
fevers,
headache,
abdominal pain, conjunctival hyperaemia, ocular
pain, auricular
pain,
arthralgia, and inflammatory skin lesions. Laboratory investigations showed high serum
C-reactive protein concentration and increased cell count in PD effluent. He was treated with
antibiotics for PD-related
peritonitis, but this was unsuccessful.
Fluorine-18-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography images demonstrated intense FDG uptake in his left superficial temporal artery, nasal septum, and bilateral auricles. The working diagnosis was
giant cell arteritis, and he was treated with oral
prednisolone (PSL) 15 mg daily with good response. However, he was unable to taper the dose to less than 10 mg daily because his symptoms flared up. Since
Tocilizumab was initiated, he could taper PSL dose to 2 mg daily. Sanger sequencing of his peripheral blood sample showed a mutation of the UBA1 gene (c.122 T > C; p.Met41Thr). We made a final diagnosis of
VEXAS syndrome. He suffered from flare of
VEXAS syndrome at PSL of 1 mg daily with his cloudy PD effluent. PSL dose of 11 mg daily relieved the symptom within a few days.
CONCLUSIONS: It is crucial to recognise aseptic
peritonitis as one of the symptoms of
VEXAS syndrome and pay attention to the systemic findings in the patients.