This autosomal recessive syndrome was first described in 1989. In 2005 it was found to be caused by mutations in a gene called the LPIN2, a gene of unknown function.
Symptoms usually appear soon after birth and include attacks lasting several days of:
- severe pain
- joint swelling
As in all the inherited fever syndromes there are raised levels of inflammatory markers.
In the long term there may be poor growth and limb contractures.
Treatment is with non-steroidal anti-inflammatory drugs (NSAIDS) and corticosteroids.