Challenging diagnosis: coexistence of two rare diseases - familial mediterranean fever and loyez-dietz syndrome type 3

Abstract

Introduction. Autoinflammatory diseases are a group of genetically inherited disorders and familial Mediterranean fever is the most common of this group. It is rare in other than Middle East populations. Clinical manifestations of FMF are attacks of fever usually shorter than 24 hours, associated with arthritis, pleuritic chest pain, and abdominal pain.

Case presentation. A 15-year-old female patient was included in the study. She complained of recurrent episodes of fever associated with arthritis and abdominal pain. Moreover, the patient presented dysmorphic features like hyperthelorism, prognathia, scoliosis, pectus carinatum, and hypermobility syndrome. The laboratory exam revealed mutations in both MEVF and SMAD 3.

Conclusions. An autoinflammatory disorder should be suspected in any patient who has a history of recurrent fever.  The attack patterns of FMF varies not just in different patients, but also in the same patient. Mainstay of treatment is colchicine that significantly improves the prognosis of patients with FMF.