¹Dr. Rania Snobar, ²Dr. Elsadeg Sharif

¹Al-Qassimi Women’s & Children’s Hospital, ²Al-Jalila Children’s Hospital

Introduction: Autoinflammatory diseases, genetic disorders impacting the innate immune system. Among these, Tumor Necrosis Factor Autoinflammatory diseases are a genetically inherited group of disorders that affect the innate immune system. Dominantly inherited periodic fever syndromes are poorly understood among physicians, especially in our region. They have been described in Caucasians. Tumor necrosis factor receptor-associated periodic fever (TRAPS) is a very rare disease that falls under the category of dominantly inherited periodic fever, with an estimated prevalence of one per million. It was first described in 1982 as “Familial Hibernian Fever” and was later renamed to TRAPS after genetic basis were revealed. The disease is caused by mutation in TNF superfamily receptor 1A (TNFRSF1A). TRAPS is characterized by attacks of fever lasting around 5-25 days and associated with other non-specific symptoms as abdominal pain, joint pain, rash, fatigue, etc. Most severe complication is AA-type amyloidosis. Diagnosis relies on high clinical suspicion supported by genetic findings.

Method(s): A single case report that aims to shed light on a poorly understood dominantly inherited periodic fever with scarce prevalence in our region. This case report describes a 12-year-old Emirati boy diagnosed with TRAPS.

Result(s): A 12-year-old Emirati boy presented with a history of recurrent, prolonged fever, starting at 1 year and 6 months of age. He experienced multiple fever episodes per year, each lasting 1-2 weeks, accompanied by severe abdominal pain. His fever reached 39-40°C and persisted. He underwent repeated hospitalizations across different medical centers, receiving intravenous antibiotics. Laboratory tests revealed elevated inflammatory markers, yet no identifiable infection source. A trial of colchicine proved ineffective. At age 9 years, genetic testing detected a heterozygous nucleotide exchange in exon 3 of the TNFRSF1A gene, resulting in an amino acid substitution (p.Thr79Met or T50M), associated with TRAPS. Treatment commenced with Canakinumab monthly injections.

Conclusion(s): TRAPS is a rare syndrome that is occasionally seen around the world. It is associated with variable mutations in the TNFRSF1A gene on chromosome 12. Primarily within exon 2 and 4 and are due to missense substitutions that interrupt important cysteine-cysteine disulfide bonds.

TRAPS remains an enigmatic autoinflammatory disease, particularly in regions with limited prevalence. Timely diagnosis and appropriate treatments are imperative to prevent severe complications. Further research is necessary to elucidate the relationship between initial clinical presentation, disease progression, and complications