Clinical Associations of E148Q Heterozygosity: What to Expect From E148Q?

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Atıf İçin Kopyala

Küçükali B., Bayraktar E. Ö., Yıldız Ç., Gönen S., Kutlar M., Karaçayır N., ...Daha Fazla

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases, cilt.30, sa.6, ss.229-234, 2024 (SCI-Expanded)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 30 Sayı: 6
• Basım Tarihi: 2024
• Doi Numarası: 10.1097/rhu.0000000000002119
• Dergi Adı: Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, MEDLINE
• Sayfa Sayıları: ss.229-234
• Anahtar Kelimeler: E148Q, familial Mediterranean fever, Henoch-Schönlein purpura, IgA vasculitis, MEFV, PFAPA
• Gazi Üniversitesi Adresli: Evet

Özet

ObjectiveThe exact effects of MEFV variants on inflammation are still under investigation, and reports on variants of unknown significance, particularly the E148Q variant, have been conflicting. Therefore, this study aims to investigate patients exhibiting E148Q heterozygosity, focusing on diagnoses and disease courses to assist physicians in interpreting the variant. MethodsData of pediatric patients presenting to the Pediatric Rheumatology clinic between November 2016 and September 2023, exhibiting only E148Q heterozygosity in MEFV gene analysis, were extracted. Patients who were lost before 9 months of follow-up have been excluded to ensure the completion of initial diagnostic tests and evaluations. ResultsAmong the 119 patients with E148Q variant, the diagnoses were as follows: healthy, 51.3%; IgA vasculitis, 10.1%; Familial Mediterranean Fever (FMF), 7.6%; Periodic fever, Aphtous stomatitis, Pharyngitis, Adenitis (PFAPA), 6.7%; and other diagnoses, 19.3%. IgA vasculitis patients experienced articular, gastrointestinal, and renal involvement at rates of 91.7%, 58.3%, and 16.7%, respectively. Complete response, partial response, and no response to colchicine were 37.5%, 12.5%, and 50%, respectively, in PFAPA patients. All FMF patients responded to colchicine treatment resulting in reduced mean FMF episode counts in 6 months from 3.22 +/- 0.92 to 0.56 +/- 0.52. ConclusionsThe 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.