PT  - JOURNAL ARTICLE
AU  - OLIVIER STEICHEN
AU  - JEROEN van der HILST
AU  - ANNA SIMON
AU  - LAURENCE CUISSET
AU  - GILLES GRATEAU
TI  - A Clinical Criterion to Exclude the Hyperimmunoglobulin D Syndrome (Mild Mevalonate Kinase Deficiency) in Patients with Recurrent Fever
AID  - 10.3899/jrheum.081313
DP  - 2009 Aug 01
TA  - The Journal of Rheumatology
PG  - 1677--1681
VI  - 36
IP  - 8
4099  - http://www.jrheum.org/content/36/8/1677.short
4100  - http://www.jrheum.org/content/36/8/1677.full
SO  - J Rheumatol2009 Aug 01; 36
AB  - Objective. The hyperimmunoglobulin D syndrome (HIDS) is an autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase gene. Our objective was to define a clinical criterion able to exclude HIDS without the need of genetic testing. Methods. A recursive partitioning algorithm was applied to derive the clinical criterion in 149 patients with genetic testing in a French laboratory, among whom 35 had HIDS. The criterion was validated in 93 patients with genetic testing in a Dutch laboratory, among whom 28 had HIDS. Results. The most discriminatory composite clinical criterion satisfied by all patients with HIDS in the derivation group was [onset age < 5 years old OR (joint pain during attacks AND length of attacks < 14 days)]. It had a sensitivity of 100% (95% confidence interval 88% to 100%) and a specificity of 28% (95% CI 17% to 40%) in the validation group. If genetic testing had been limited to patients fulfilling this criterion, 18 tests (19%) would have been avoided in this highly selected validation sample, without missing a single patient with HIDS. Conclusion. Even among patients already selected by expert physicians, this criterion could help prevent unnecessary genetic testing, which is resource- and time-consuming.