A puzzling prelude: Bowel perforation unveiling the diagnosis of atypical familial Mediterranean fever

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CONTEST DISCLAIMER

Case description

A 31-year-old Emirati woman presented with recurrent fever associated with a sore throat. She was initially diagnosed with tonsilitis and treated with antibiotics. Two days later, she developed epigastric abdominal pain, which became diffuse and increased in severity. It was associated with recurrent fever. The patient had a history of episodes of recurrent tonsilitis that would spontaneously resolve since her late twenties. She had no previous surgical history, personal history of arterial/venous thromboses, or miscarriages.

On physical examination, the patient was febrile, but otherwise vitally stable. Her abdominal examination showed exquisite tenderness and rebound tenderness of the right lower quadrant, and a positive McBurney sign. Laboratory workup showed elevated white blood cell count and C-reactive protein levels, but normal complete blood count, lactic acid, lipase, and liver function tests. Computed tomography of the abdomen and pelvis showed no appendicitis, but was significant for free air, suggestive of perforated hollow viscus of the duodenum and/or right colon.

The patient underwent emergent exploratory laparotomy with intraoperative findings of loculated gas in the mesentery around the second and third parts of the duodenum, and a sealed perforation of the proximal transverse colon at the hepatic flexure, due to the presence of duodenal adhesions. She underwent a right hemicolectomy with no complications. Tissue biopsy of the resected colon showed findings consistent with an ischemic bowel with no evidence of granuloma, malignancy, or amyloidosis. The patient underwent hypercoagulability and autoimmune workup that was positive only for a single positive lupus anticoagulant.

Through the diagnosis of exclusion, a suspicion of familial Mediterranean fever (FMF) was raised and the patient underwent MEFV gene testing, which reported that “4 variants were identified and at least 3 were interpreted as heterozygous alterations with uncertain significance.” The combination of the patient’s ethnicity, clinical manifestations, and abnormal gene testing was deemed to be consistent with FMF and she was started on colchicine. She continues to be compliant with the medical therapy and her FMF is clinically quiescent.

About Best Case Report Contest 2024

Young Talents in Internal Medicine World Contest—previously Best Case Report Contest—is a contest for internal medicine specialists or trainees in internal medicine up to 35 years of age. Every year the most engaging submissions from around the world are presented by authors during a special session at the McMaster International Review Conference of Internal Medicine (MIRCIM). Visit youngtalents.one to learn more.

To browse all abstracts from Best Case Report Contest 2024, visit Polish Archives of Internal Medicine.