Date: Sunday, November 8, 2015
Session Title: Miscellaneous Rheumatic and Inflammatory Diseases Poster I
Session Type: ACR Poster Session A
Session Time: 9:00AM-11:00AM
We present the case of a family with a new diagnosis of
TRAPs. The father, a 59 year old man with a history of type 2 diabetes mellitus and hypertension had presented to a DGH on numerous occasions since 1990 with recurrent pyrexic episodes associated with rigors, fatigue and arthralgia. This had often been attributed to a lower respiratory tract infection, despite a lack of positive culture results or chest x-ray changes to support this.
He was entirely well between episodes.
He had an extensive travel history over the years but had previously tested negative for malaria and other tropical diseases. His ESR and CRP were elevated with each flare, but had not been checked during asymptomatic periods. He was extensively investigated during each admission, but multiple blood, urine and sputum cultures returned negative.
He was admitted again in August 2013 with a 4 week history of pyrexia, rigors and elevated inflammatory markers with CRP 150 mg/l and ESR 111 mm/h and a leukocytosis of 11.7×10^9/L. Ferritin was elevated at 1700 ng/ml on this occasion, but he met no other Yamaguchi criteria for Still’s disease. Blood and urine cultures were negative as was quantiferon gold testing. HIV and viral serology were negative. His echocardiogram, CT chest, abdomen and pelvis and ultrasound of urinary tracts all found no abnormalities. His ANCA, ANA, ANA to Hep cells, ENA, complement, rheumatoid factor and immunoglobulins were normal. He was also seen by haematology who performed a bone marrow biopsy which returned morphologically normal with no evidence of malignant cells.
He went on to have a white cell HMPAO whole body scan which showed slight increased uptake in the left side of his manubrium which raised the suspicion of an inflammatory arthropathy, prompting a referral to rheumatology. Bloods were sent to the national amyloid centre on the suspicion of an systemic autoinflammatory syndrome. Results confirmed a new mutation in the region of the TRAPS gene TNFRSF1Aex4-5 C96Wc.375T>G. This is a new mutation not previously reported in the literature.
During this period his son was admitted with pyrexia, abdominal pain and elevated inflammatory markers. CT abdomen revealed no abnormality. Given his father’s history of TRAPS, he too was tested and this returned positive for the TRAPS mutation.
Currently he receives prednisolone 0.5-1mg/kg with acute attacks which settle within 5 days. If however he starts to require more than 10 days of treatment or if his annual mean dose of prednisolone is >5mg/day he will require anakinra. His inflammatory markers have remained normal in between attacks to date and he has no evidence of amyloid.
To cite this abstract in AMA style:Leith M, Millar A, Burns J. A New Genetic Mutation in TNF Receptor Associated Periodic Syndrome (TRAPS) [abstract]. Arthritis Rheumatol. 2015; 67 (suppl 10). https://acrabstracts.org/abstract/a-new-genetic-mutation-in-tnf-receptor-associated-periodic-syndrome-traps/. Accessed September 28, 2021.
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