Abstract
A 28-year-old male patient who presented to our clinic with recurrent fever along with chest pain and abdominal pain. His electrocardiogram test was normal. Due to incomplete intestinal obstruction, initially, laparotomy was considered for the patient. Based on the family history with repeated fever and abdominal pain in two of his second degree relatives, we timely carried out second-generation gene sequencing as the diagnosis of TNF receptor-associated periodic syndrome (TRAPS) was highly suspicious. Genetic testing was positive and heterozygous for the TRAPS sequence mutation (the mutant gene was TNFRSF1A), hence, we successfully avoided surgical intervention. Here, we discussed the diagnosis process and current understanding of the TRAPS treatment.
Highlights
ConclusionsPhysicians should keep genetic diseases in mind and carry out early gene sequencing for definitive diagnosis in patients with repeated fever and with no obvious evidence of infection
Monogenic autoinflammatory diseases (AID) which are characterized by genetic protein abnormalities involved in innate immunity.Case presentation: A 28-year-old male patient who presented to our clinic with recurrent fever along with chest pain and abdominal pain
In clinical practice, physicians should keep genetic diseases in mind and carry out early gene sequencing for definitive diagnosis in patients with repeated fever and with no obvious evidence of infection
Summary
Physicians should keep genetic diseases in mind and carry out early gene sequencing for definitive diagnosis in patients with repeated fever and with no obvious evidence of infection. A high index of suspicion for early detection and prompt treatment would prevent disease progression, save medical resources and reduce costs.
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