Gazi University Faculty of Medicine Reports Findings in Vasculitis (Clinical Associations of E148Q Heterozygosity: What to Expect From E148Q?).

ANKARA (Turkey); TURKEY

A report from the Gazi University Faculty of Medicine in Ankara, Turkey, discusses the clinical associations of the E148Q variant in patients with vasculitis. The study aimed to investigate the diagnoses and disease courses of patients with E148Q heterozygosity to assist physicians in interpreting the variant. Among the patients with the E148Q variant, the most common diagnoses were healthy, IgA vasculitis, Familial Mediterranean Fever (FMF), and Periodic fever, Aphtous stomatitis, Pharyngitis, Adenitis (PFAPA). The study found that the E148Q variant may amplify inflammation and modify disease courses, and patients with typical FMF episodes should receive colchicine treatment. However, further research is needed to determine the treatment-modifying role of the E148Q variant in PFAPA. [Extracted from the article]

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