539 - Two familial cases with Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome (TRAPS) like presentation and a mutation in TNFRSF1A gene of undetermined significance: Case Report and Brief Review of the Disease
Resident physician University of Florida Pediatric Residency, Pensacola Program University of Florida Pensacola, Florida, United States
Background: Autoinflammatory diseases are rare innate immune system disorders that present as fever episodes with systemic and/or various organ specific inflammation. One of these disorders is the tumor necrosis factor receptor-1 associated periodic syndrome (TRAPS) which results from mutation within the tumor necrosis factor receptor superfamily member one-A (TNFRSF1A) gene. We herein, present 2 siblings who suffered for years of multiple undiagnosed febrile episodes and one of them was later found to have an unreported mutation in the TNFRSF1A gene.
Design/Methods: This is a case report of 2 patients that were admitted to the hospital. A thorough chart reveiw was done. A detailed review of literature on the topic of TRAPS was conducted.
Results: A 8 years old boy with history of recurrent unexplained febrile illnesses presented with 5 days of fever, abdominal pain and diarrhea. Apart from fever, and looking tired, exam was unremarkable. Lab work showed raised inflammatory markers in the form of leukocytosis, elevated sedimentation rate and CRP. Complete metabolic panel, serum ferritin, fecal calprotectin, urinalysis, blood culture and echocardiogram results were all unremarkable. No underlying infectious etiology was found and he didn't meet criteria for incomplete Kawasaki. Previous genetic testing revealed a mutation one copy of a variant of uncertain clinical significance, (c.212A>T; p.Asp71Val), detected in the TNFRSF1A gene. Given the past history and the new family history of a similar presentation in his 5 year old sibling a week prior to the current presentation, periodic fever syndrome was suspected. Oral Prednisolone was started, after which the fever completely resolved within 24 hours and all the inflammatory markers trended down. On reviewing literature and the available registries, this mutation was not found to be previously reported. Due to the clinical correlation and the similar presentation in the 2 siblings, we believe it is likely that this mutation could be of clinical significance. Unfortunately, parents have refused to get genetic testing at this time. Conclusion(s): TRAPS is a rare autosomal dominant autoinflammatory disorder due to mutation within the TNFRSF1A gene. We herein report 2 familial cases with TRAPS-like presentation with a mutation in the TNFRSF1A gene that was not previously reported in literature and could likely be proven to be pathogenic.
Authors/Institutions: Esraa Eloseily, University of Florida, Pensacola, Florida, United States; Jiasen He, University of Florida, Pensacola, Florida, United States; Adriana Fernandez Bowman, University of Florida, Pensacola, Florida, United States; Brandon Dorion, Nemours Children's Clinic, Pensacola, Florida, United States