Evaluation of Gastrointestinal System Complaints and Comorbidities in Pediatric Familial Mediterranean Fever Patients

J Clin Rheumatol. 2023 Dec 1;29(8):375-380. doi: 10.1097/RHU.0000000000002027. Epub 2023 Sep 19.


Objective: Familial Mediterranean fever (FMF) is the most prevalent hereditary autoinflammatory disease among children. Abdominal pain and various gastrointestinal system (GIS) manifestations may arise directly from FMF or concomitantly with FMF. This study aimed to evaluate GIS complaints and findings other than classic peritonitis attacks in patients with FMF and to interpret concomitant GIS and hepatic disorders in these patients.

Methods: The medical and genetic findings of patients with FMF who attended our clinic between December 2011 and December 2021 were reviewed. Gastrointestinal system symptoms, liver function tests, abdominal images, and endoscopic and histopathological data were extracted from medical records.

Results: A total of 576 pediatric patients (female, 52.3%) diagnosed with FMF were included. Among them, almost one-fifth displayed GIS complaints, such as abdominal pain, defecation problems, and dyspepsia, distinct from typical FMF attacks. High serum aminotransferase levels were detected in 18.4% of the patients, with viral infections being the most common cause of moderate/severe hypertransaminasemia. In addition, during follow-up, 26.9% of them were referred to the pediatric gastroenterology department. At least 1 gastroenterological and hepatobiliary disorder was detected in 17.5% of the patients because of organic and functional GIS disorders or hepatobiliary disorders, such as gastroesophageal reflux disease, esophagitis, functional dyspepsia, and inflammatory bowel diseases.

Conclusion: Various GIS and hepatic disorders can be encountered in children with FMF. The spectrum of these complaints and pathologies can range from frequently observed health problems to more severe diseases.

MeSH terms

  • Abdominal Pain / diagnosis
  • Abdominal Pain / epidemiology
  • Abdominal Pain / etiology
  • Child
  • Dyspepsia* / complications
  • Familial Mediterranean Fever* / complications
  • Familial Mediterranean Fever* / diagnosis
  • Familial Mediterranean Fever* / epidemiology
  • Female
  • Gastrointestinal Diseases* / diagnosis
  • Gastrointestinal Diseases* / epidemiology
  • Gastrointestinal Diseases* / etiology
  • Humans