First described in a family of Irish descent, hence “Hibernian”, now called TRAPS (TNF receptor assoc periodic syndrome), and now described in a wide range of different ethnicities.
Various mutations of TNF-Receptor Super Family 1A (TNFSF1A) seen, on chromosome 12p (same as HIDS but different gene). These mutations are dominant and penetrate poorly, with only a small proportion developing disease.
Onset is typically around 3yrs of age but varies widely. Periodicity also varies widely: typically every 5-6 weeks. Fever for 3 days heralds onset of other symptoms, which then last for usually 5 days or more (cf Familial Mediterranean Fever):
- centrifugal migratory erythematous rash, often starting as a patch overlying an area of myalgia, but lots of variation
- Myalgia – quite striking cf HIDS, uniquely can involve face and neck. CK etc are normal, so due to fasciitis not myositis.
- Arthralgia – but arthritis uncommon, and non-destructive.
- Abdo pain is extremely common, often with constipation but may progress to bowel obstruction. Many patients have a history of bowel surgery.
- Eye involvement is characteristic – conjunctivitis, periorbital oedema; uveitis has been described rarely. cf Behcet’s
- Pleuritis can occur, but chest pain is more usually musculoskeletal.
- Lymphadenopathy is rarely very prominent, cf HIDS.
About 14% develop amyloidosis.
Diagnosis is mainly clinical. Must have at least 6/12 history of recurrent inflammatory symptoms, with at least one of the above features, episodes must last at least 5/7 on average (even if variable), with response to steroids but not colchicine. Other affected family members will obviously increase your suspicion. Ethnic group does not seem to have any bearing.
Steroids reduce severity but not frequency of attacks. NSAIDS help fever. Etanercept appears to prevent; colchicine does not (hence one of the diagnostic criteria above!).[Medicine 2002;81(5):349-68 PMID 12352631]