Enthesitis in a 16-Year-Old Boy with M694V Mutation.

Case Rep Med

Department of Radiology, Deventer Ziekenhuis, Deventer, Netherlands.

Published: December 2016

AI Article Synopsis

  • Familial Mediterranean Fever (FMF) is marked by recurrent fever and joint pain, with specific attention given to enthesitis in spondyloarthropathy, particularly related to the M694V mutation.
  • A case study of a 16-year-old Turkish boy with FMF revealed severe heel pain and an MRI diagnosis of plantar fascia enthesitis, which did not respond to standard treatments.
  • After expert evaluation, the treatment shifted to addressing enthesitis-related arthritis, leading to full recovery for the patient within 8 months, highlighting the need for distinct treatment approaches for FMF-related enthesitis.

Article Abstract

. FMF (Familial Mediterranean Fever) is characterized by recurrent attacks of fever and articular pain. Enthesitis is the hallmark of pain in spondyloarthropathy. Literature suggests association of M694V mutation and enthesitis. We report a case of a 16-year-old boy with enthesitis and FMF. . A 16-year-old boy of Turkish origin with a history of FMF presented with localized tenderness of the heel and severe disability. MRI showed an enthesitis of the plantar fascia. Standard treatment of FMF and enthesitis was not successful. After referral to a university hospital and expert opinion of a professor in rheumatology, this enthesitis should be treated as an enthesitis related arthritis. With this treatment, our patient fully recovered 8 months after the onset of the disease symptoms. . M694V mutation related enthesitis should be considered in FMF patients with enthesitis. We would suggest treatment for enthesitis related arthritis in similar cases. This is of clinical importance because the treatment is different from treatment of enthesitis or articular pain caused by FMF.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5164889PMC
http://dx.doi.org/10.1155/2016/5869250DOI Listing

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