Familial Mediterranean fever (FMF), Intestinal Behçet’s or Crohn’s disease: Does a confirmatory diagnosis matter?
Dr Shehla Farrukh, Dr Muhammad Haroon, Dr Fahd Adeeb
Department of Rheumatology, University Hospital Kerry, Tralee
The presentation of Familial Mediterranean Fever (FMF) and Behçet’s disease (BD) can be diverse and provide diagnostic challenges.
We present an unusual case of a Syrian immigrant in her mid-20s with multiple admissions to our hospital with unexplained high-grade fever with spontaneous resolution within 3-4days,abdominal pain,arthralgia and recurrent oral aphthosis (oral aphthosis since the age of 12).Her past history include a laparotomy with ileocolic resection back in Syria when she developed peritonitis and perforation.
Persistently significant elevation of c-reactive protein in the range of 100-200.Septic screen, autoimmune profile and echocardiogram were unremarkable.Computed tomography (CT) of thorax,abdomen and pelvis (TAP) demonstrated diffuse colonic thickening suggestive of colitis but subsequent colonoscopy and histopathology were unremarkable.CT angiogram not suggestive of vasculitis.
She was discharged on tapering dose of oral prednisolone and colchicine in view of possible periodic fever syndrome or Behçet’s disease.Unfortunately she was lost to follow-up and didn’t continue with the treatment,then readmitted post C-section when she developed unexplained high-grade pyrexia.CT TAP on this occasion demonstrated localised jejunitis with associated mesenteric lymphadenopathy.We commenced her on intravenous methyl prednisolone with complete resolution of symptoms.In view of recurrence of oral aphthosis and abdominal pain during her outpatient follow-up and consideration that she is currently breast-feeding,she was commenced on an anti-TNF(Certolizumab-pegol) and remained afebrile 2-weeks post treatment;however consideration will be given for IL-1 inhibitors if she gets symptomatic in future
•Ethnic origin should be taken into consideration in the differential diagnosis to ensure that a less common disorder is not overlooked.
•Genetic testing for MEFV mutations can be a vital component in reaching diagnosis.
•Early initiation of treatment in patients with FMF can prevent further complications of secondary amyloidosis.
•The pathophysiology is different between periodic syndromes such as FMF (autoinflammatory disorder; would be sensitive to IL-1 inhibition) and BD (mostly would respond to anti-TNF inhibition) and may require different treatment strategies.Time will tell if our patient would fully respond to the current treatment or would require a different treatment modality in the future.