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

Area of Science:

• Rheumatology
• Genetics
• Internal Medicine

Background:

• Familial Mediterranean Fever (FMF) is an autoinflammatory disorder characterized by recurrent fever and articular pain.
• Enthesitis, inflammation at tendon or ligament insertion sites, is a key feature of spondyloarthropathies.
• The M694V mutation is a common genotype in FMF and has been linked to enthesitis.

Purpose of the Study:

• To report a case of a 16-year-old boy with FMF and M694V mutation presenting with severe enthesitis.
• To highlight the potential association between M694V mutation in FMF and enthesitis.
• To propose a specific treatment approach for FMF-associated enthesitis.

Main Methods:

• Case report of a 16-year-old male of Turkish origin with FMF.
• Clinical presentation of heel tenderness and MRI-confirmed plantar fascia enthesitis.
• Review of treatment outcomes for standard FMF and enthesitis therapies versus enthesitis-related arthritis treatment.

Main Results:

• The patient initially presented with severe heel enthesitis unresponsive to standard FMF and enthesitis treatments.
• Diagnosis was revised to consider enthesitis-related arthritis based on expert rheumatological opinion.
• Treatment as enthesitis-related arthritis resulted in complete recovery within 8 months.

Conclusions:

• Enthesitis in FMF patients, particularly those with the M694V mutation, warrants consideration as enthesitis-related arthritis.
• A tailored treatment approach for enthesitis-related arthritis may be more effective than standard FMF or enthesitis management.
• This distinction is clinically significant due to differing treatment protocols for FMF-related pain versus enthesitis-related arthritis.