016 Periodic fever syndrome (hyper IgD syndrome) presenting with pericardial effusion in adulthood

Abstract

Background: Autoinflammatory diseases include periodic fever syndromes, in which recurrent fevers dominate the clinical picture along with other manifestations. These usually present in childhood and having the initial episode after teenage years is unusual. Hyper IgD syndrome (HIDS) is caused by mutations in mevalonate kinase gene causing decreased enzyme activity which leads to secretion of interleukin-1 beta, which causes episodes of hyper-inflammation. Method(s): We report the case of periodic fever syndrome in a 34 year old Caucasian male who presented with chest pain secondary to pericardial effusion, weight loss, poor appetite, arthralgia, myalgia and cyclic febrile attacks (39 8C) in May 2017. No evidence of infection was found in spite of extensive investigation. Clinical examination showed no synovitis or specific skin rash. He had an unremarkable childhood apart from asthma. He recalled having only two previous episodes of fevers, one short hospital admission in his teens (2003) with high fever and no cause was identified. More recent was episode in November 2016 lasting three weeks of fevers which was attributed to viral infection but no chest symptoms in that episode. There was no significant family history of illnesses and no non-Caucasian family links. Investigations: CRP, serum amyloid A and ferritin level were high, 292mg/L, 739 mg/L and 1031 ug/L respectively. Further investigations revealed high IgD level at 277 KU/L (normal upto 100). PET scan did not show any significant abnormalities other than pericardial effusion. HIV, hepatitis B and C screen, and Treponemal antibody were all negative. ANA, dsDNA, ENA, ANCA, and rheumatoid factor were also negative. Enlarged lymph node biopsy from right posterior cervical chain showed possible epidermal or brachial cleft cyst, no evidence of dysplasia or malignancy. Possible diagnosis of adults Still's disease was considered by cardiology team and rheumatology input was sought. Result(s): Patient's clinical symptoms resolved after starting colchicine 500 mcg TDS in June 2017. CRP, serum amyloid A and ferritin level have all improved with colchicine, 2.6mg/L, 4.6mg/L and 79ug/L respectively three months later with no further relapse. Steroids weren't used at all. Pericardial effusion on repeat echocardiogram also has reduced significantly. Genetic testing via the auto-inflammatory service at Leeds Teaching Hospitals for HIDS and FMF has been arranged and he may need anakinra or tocilizumab in case of relapse on colchicine. Conclusion(s): This case illustrates the importance of recognising inflammatory features. Most of cases of HIDS reported onset of symptoms during infancy. However it should still be considered in cases when periodic fever onset is later on in life. The level of serum IgD is helpful in diagnosis, and genetic testing for mutations can help in assessing particular type of periodic fever which may impact on diagnosis and treatment options.