Clinical Associations of E148Q Heterozygosity: What to Expect From E148Q?
Batuhan KüçükaliElif Özlem BayraktarÇisem YıldızSevim GönenMerve KutlarNihal KaraçayırNuran BelderBüşra AcunPelin Esmeray ŞenolEmine Nur Sunar YaylaDeniz Gezgin YıldırımSevcan A BakkaloğluPublished in: Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases (2024)
The E148Q variant may amplify inflammation and modify disease courses. Patients with the E148Q variant experiencing typical FMF episodes should receive colchicine, but clinicians should exercise caution regarding alternative diagnoses. Additionally, the E148Q variant may increase acute phase reactants and disease severity in IgA vasculitis. However, to reach definitive conclusions on its treatment-modifying role in PFAPA, universal diagnosis and treatment response criteria should be adopted.