The Gaslini Score and the case of Familial Mediterranean Fever who dressed up as PFAPA

In a child with recurrent episodes of fever accompanied by acute pharyngitis, but with negative throat cultures, we should suspect that it is a PFAPA (periodic fever, aftous stomatitis pharyngitis and cervical adenitis). The diagnostic criteria are simple but non-specific, so it is not possible to rule out other auto-inflammatory diseases.

We present the case of a girl who suffered recurrent episodes of fever, pultaceous pharyngitis (with negative throat cultures), mild diarrhoea, frequent abdominal pain and sometimes otalgia as well. She fulfilled the diagnostic criteria for PFAPA, but, alerted by the result of “high risk” obtained with de Gaslini Score, it was discovered that, in fact, the symptoms were due to Familial Mediterranean Fever.

Currently it is inefficient to carry out a genetic study in all cases with suspected hereditary febrile auto-inflammatory disease. This article tries to remind that we have at our disposal the Gaslini Score, a tool that, though imperfect, is useful and makes easy to detect cases with high probability of being another auto-inflammatory disease with clinical symptoms similar to those of the PFAPA, but with a worse prognosis and treatment.