Factors associated with diagnostic delay in Familial Mediterranean Fever

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EULAR – The European Alliance of Associations for Rheumatology – held its 2023 annual congress in Milan, Italy. One of the abstracts chosen for presentation in the scientific session on Rheumatic and Musculoskeletal diseases (RMDs) in children and young people, focused on the factors associated with diagnostic delay in FMF, using data from the Juvenile Inflammatory Rheumatism (JIR) cohort.

Of 960 FMF patients enrolled, 80% received a diagnosis within 10 years of symptom onset; the remaining 20% had delayed diagnosis, and were significantly older with median age of 46.4 versus 15.5 years. The authors also found the diagnostic delay was higher in women than men. This could be linked to abdominal attacks being confused with period pains.

When the investigators looked at people's clinical presentation during FMF attacks, no differences were found for abdominal pain, musculoskeletal symptoms, or chest pain. However, erysipelas-like erythema was more frequently observed among people with delayed diagnosis (33% versus 22%). This clinical feature is not known as a pathognomonic symptom of FMF by all practitioners, but has been previously reported in Israel and Turkey where the disease is highly prevalent.

The percentage of patients with one or two pathogenic MEFV mutations did not differ according to the time to diagnosis. However amyloidosis was significantly more frequent in those with delayed diagnosis. Patients with delayed diagnosis also tended to receive significantly more biotherapy.

To the authors' knowledge, this cohort study is the first to investigate diagnostic delay and its associated factors in a large European cohort. Education around FMF and better communication to patients and practitioners could be fruitful to help improve earlier diagnosis rates.

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