A man in his sixties with chondritis and bone marrow failure

Area of Science:

• Genetics
• Immunology
• Hematology

Background:

• VEXAS syndrome is a recently identified autoinflammatory disorder.
• It is caused by somatic mutations in the UBA1 gene, crucial for ubiquitination.
• The syndrome primarily affects older men, presenting with diverse clinical symptoms.

Observation:

• A sixty-year-old man presented with fever, chest pain, fatigue, and pulmonary infiltrates.
• Initial diagnoses included giant cell arteritis and relapsing polychondritis.
• The patient later developed macrocytic anemia and thrombocytopenia, with a fatal outcome.

Findings:

• Somatic UBA1 mutation confirmed VEXAS syndrome in the patient.
• VEXAS syndrome can be misdiagnosed as other inflammatory conditions like relapsing polychondritis or giant cell arteritis.
• This case represents the first molecularly confirmed VEXAS syndrome in Norway.

Implications:

• Highlights the importance of genetic testing for UBA1 mutations in suspected VEXAS syndrome cases.
• Emphasizes the need for increased awareness among clinicians to avoid misdiagnosis.
• Underscores the potential for VEXAS syndrome to mimic various systemic inflammatory disorders.