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AB0252 Traps syndrome in a three generation greek family with long lasting recurrent fevers
  1. O. Vougiouka,
  2. T. Karpathios,
  3. H. Konstantopoulos,
  4. C. Bakoula
  1. 2Nd Dep. Paediatrics Athens Univercity Medical School, Hospital Paidon Aglaia Kyriakou, Athens, Greece

Abstract

Background Tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) is an autosomal dominant inherited periodic fever syndrome caused by mutation of the 55kDa TNF receptor superfamily A1 gene,TNFRSF1A.TRAPS is defined as recurrent attacks of systemic inflammation for which no infectious or auto-immune cause can be identified. To date, over 50 mutations in the gene have been reported. Typical TRAPS features include recurrent long lasting fevers (7-28 days), myalgia, rashes, periorbital edema, conjunctivitis, joint and abdominal pain.

Objectives We report a 3 generation family, whose members presented with recurerrent fevers, lasting 15-30 days, myalgia, painful skin underlying expanding erythema and abdominal pain. One patient from 1st and 4 from 2nd generation of this family were used to live with their symptoms. In recent years a 10 year old girl from 3rd generation, with symptoms since the age of 7y., was brought to medical attention.

Results She was undertaken a series of laboratory tests, including gene analysis for FMF and hyper Ig-D syndrome with negative results. 8 years later C73W TRAPS mutation was detected by the scientific team of the Genetic Laboratory, Montpellier University Hospital. The same mutation was also found to the symptomatic mother and sister of the girl. She was initially treated with colchicine, without response, even if she lacked compliancy. Occasionally short courses of NAIDS and steroids were prescribed with partial response. After genetic confirmation of TRAPS Canacinumab was prescribed for her, but we are still waiting her appliance to medical care providers. Genetic confirmation of the disease is anticipated for 5 other symptomatic members, by the same Hospital Centre.

Conclusions TRAPS, the syndrome originally described as Familial Hibernian Fever, has broadened out its Irish and Scottish borders, so it is considered in cases of recurrent fevers. Besides poor life quality of the patients, amyloidosis can be developed in up to 25% of cases. The role of mutated TNFr-a in TRAPS manifestations is not very well clarified, but it is involved in IL-1 overproduction, as it happens in other inflammasome associated recurrent fever syndromes. So anti-IL-1 targeted therapies for TRAPS appeared in literature which are also justified from the results. This justify the prescription of anti-IL-1 monoclonal antibody for our patient with chronic intractable symptoms. We anticipate her to come back to medical attention.

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Disclosure of Interest None Declared

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