Relationship between intussusception and familial Mediterranean fever: a molecular genetic study

We aimed to investigate the relationship between intussusception and familial Mediterranean Fever (FMF) in children diagnosed with intussusception.

Patients aged 0-14 years who were followed up with a diagnosis of intussusception between 2016 and 2019 were evaluated prospectively. Mediterranean FeVer (MEFV) gene expression analyses, polymorphism and mutation analyses, which are important for FMF, were performed by Western blot and ELISA. Patients were categorized into two distinct groups; Group 1 (control group) consisted of individuals without a history of FMF, intussusception, or recurrent abdominal pain, while Group 2 comprised patients diagnosed with intussusception without prior FMF diagnosis or recurrent abdominal pain.

The rate of mutation detected in the MEFV gene was 20% in group 1 (n:100) and 36.1% in group 2 (n:194) (p = 0.004). The most frequently detected mutations in group 2 were E148Q, P369S, V726A, whereas in group 1, E148Q, V726A, P369S were detected. In group 2, 14.8% of the patients with mutations in the MEFV gene were doubling. Group 2 was statistically significant compared to group 1 in terms of mutation frequency, number of mutated patients and double mutation.

The frequency of MEFV mutation was found to be significantly higher in patients with intussusception than in patients with FMF. These genetic variants predisposing to FMF may be effective in the development of intussusception.