Abdominal pain and fever in a patient with familial periodic fever: an extremely rare mutation of the TNF receptor superfamily member 1A gene

Abstract

Periodic fever syndromes (PFSs) are a clinically inhomogeneous group of diseases based on peculiar genetic mutations. PFSs have to be suspected in young patients presenting with recurrent attacks of abdominal pain, skin rashes, arthritis, myalgia and fever as soon as more prevalent diseases have been excluded. An unconsidered hypothesis of PFSs may lead in delaying the diagnosis and unnecessary medical and surgical treatments. In this article, we described the case of a young man presented to our attention due to recurrent abdominal pain and fever caused by TNF-receptor-associated periodic syndrome (TRAPS) sustained by the TNFRSF1A gene mutation.