FMF: familial Mediterranean fever; VUS: variant of uncertain significance.
* Ensure that the genetic testing is performed properly, the patient identification is correct, and the interpretation of pathogenicity is accurate based on the most recent data analysis.
¶ Pathogenic and likely pathogenic variants are treated the same for purposes of surveillance and risk reduction interventions; these interventions are independent of family history.
Δ VUS lack sufficient information from clinical and bench research to be classified as pathogenic or benign. Continue to seek updated interpretation of pathogenicity periodically (eg, annually).
◊ The diagnosis of FMF should be suspected in individuals with recurrent febrile episodes accompanied by peritonitis, synovitis or pleuritis, recurrent erysipelas-like erythema, repeated laparotomies for an acute abdomen with no identifiable underlying pathology, a first-degree relative with FMF, and/or membership in an at-risk ethnic group.
§ Refer to related UTD content on FMF for additional information.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟