The Eurofever Survey

The first objective of the Eurofever Project was the construction of a web-based survey on the prevalence of cases with definitive or suspected disease among all centers of Pediatric Rheumatology.

Methods.  A secured web-based questionnaire on the number patients with genetically defined or clinical suspected Autoinflammatory disorders among the centers of Pediatric Rheumatology members of the Pediatric Rheumatology Trial International Organization (PRINTO, www.printo.it) and the main adult Centers dealing with Autoinflammatory diseases was performed.

Results. 177 Centers from 55 Countries (122 in Europe, 21 South America, 24 Asia, 7 Australia,  3 Africa) replayed to the survey. The distribution of the Centres according different geographic areas are shown in the following figure.

Among the referred patients with a genetic proven disease 199 were affected by TRAPS, 206 by mevalonate kinase deficency (MKD or HyperIgD),  212 by cryopyrinopathies (FCAS, Muckle-Wells or CINCA/NOMID syndromes),  84 by Pyogenic Sterile Arthritis, Pyoderma Gangrenosum and Acne (PAPA) syndrome, 77 patients with mutations of the CARD15 gene (Blau’s syndrome).
A genetically proven Familial Mediterranean Fever (FMF) was reported in 2933 patients (2080 from countries of  the Southern-East Mediterranean basin, 853 from European countries). 

A number of patients with a clinical suspected Autoinflammatory were also reported: 110 with suspected TRAPS, 103  MKD, 73 cryopyrinopathies, 50 PAPA, 78 Blau’s syndrome. A total number of 777 CRMO were also referred.

The distribution of cases in European (left panel) and non-European Centers (right panel) is described in the following graphs:

 

Notably, the ratio between genetically proven vs suspected disease was 1.97 in Western European countries and 0.6 in Countries where the molecular analysis is not available.

In conclusions:  a relevant number of patients with genetically defined or clinical suspected Autoinflammatory diseases are followed by different Centers of Pediatric Rheumatology and specialized adult Centers worldwide.  A relevant number of patients are therefore available for a common registry for this disorders. An improvement of  the possibilities for the molecular diagnosis in non-Western european Countries is also recommended

 

(last up-date 17/12/2009)