Rheumatology Medical News about HIDS, Mevalonate kinase, Genetic testing

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A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever
Journal of Rheumatology, 08/14/09

Steichen O et al. – Study concludes that even among patients already selected by expert physicians, the clinical criterion described here could help prevent unnecessary genetic testing in pts for hyperimmunoglobulin D syndrome (HIDS), which is resource- and time-consuming.

Methods

HIDS is an autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase gene
Aim of this study was to define a clinical criterion able to exclude HIDS w/o the need of genetic testing
A recursive partitioning algorithm was applied to derive the clinical criterion
149 pts with genetic testing in a French laboratory, among whom 35 had HIDS were included
Criterion was validated in 93 pts with genetic testing in a Dutch laboratory, among whom 28 had HIDS

Results

Most discriminatory composite clinical criterion satisfied by all pts 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% and a specificity of 28% in the validation group
If genetic testing had been limited to pts fulfilling this criterion, 19% of tests could be avoided in this highly selected validation sample, w/o missing a single patient with HIDS

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