Zinterl C, Costa-Reis P, Esteves IC, Marques JG, Sousa AB , et al.
Journal of multidisciplinary healthcare •
Systemic autoinflammatory diseases (SAID) are characterized by inappropriate activation of the innate immune system and include not only monogenic periodic fever syndromes but also multifactorial conditions. As SAID are rare and represent a diagnostic challenge, a multidisciplinary approach is important to ensure successful diagnosis and adequate follow-up of these patients. To describe the organization of our multidisciplinary SAID clinic and to characterize our clinical experience, highlighting the benefits of multidisciplinary team management. Our SAID clinic takes place monthly and is managed by pediatric rheumatologists closely collaborating with pediatricians specialized in infectious diseases and immunodeficiencies and one medical geneticist. Patients' data are systematically incorporated in the Rheumatic Diseases Portuguese Register (Reuma.pt). Biological samples are stored in a biobank. We describe our clinical experience based on SAID patients registered into Reuma.pt/SAID between July 2011 and June 2020. We have registered 176 patients, with a median age of disease onset of 3.1 ± 4.4 years and median age at disease diagnosis of 4.7 ± 4.0 years. Most patients were diagnosed with periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA) (n=133), 20 with undefined SAID (uSAID) and 13 with monogenic SAID, including familial Mediterranean fever (FMF) (n=5), tumor necrosis factor receptor-associated periodic syndrome (TRAPS) (n=1), cryopyrin-associated periodic disease (CAPS) (n=1), and hyperimmunoglobulin D syndrome/mevalonate kinase deficiency (HIDS/MKD) (n=2). A genetic test was performed in 31 patients (18%), and in 26% of these a mutation responsible for the phenotype was found. Thirty-four patients (19%) achieved remission. FMF was the most common monogenic SAID and the percentage of patients with an identified causal mutation was low. A structured electronic clinical record coupled with a biobank and a multidisciplinary approach are crucial to ensure successful diagnosis and adequate follow-up of these patients.
PFAPA syndrome (Periodic Fever, Aphthous stomatitis, Pharyngitis, Adenitis) is a benign sporadic syndrome of unknown cause and an important diagnosis to consider in the child with recurrent fever and tonsillitis. To describe the presentation, age of onset, time until diagnosed, episode duration, frequency of typical and atypical symptoms, clinical course after diagnosis and response to treatment in a case series of children with PFAPA. Case series of children with PFAPA referred to our consult over an eight-year period (from May 2001 to May 2009). Data were collected from medical records and telephone calls. We included 21 patients with PFAPA, with age of onset between 6 months and 5 years (median 24 months). Diagnosis was established 4 months to 3 years after onset of crises (median 24 months). Episodes recurred every 2 to 6 weeks (median 30 days), and consisted in 3 to 10 days (median 4,5 days) of fever (21/21), pharyngitis (21/21), cervical adenitis (19/21), and aphthous stomatitis (16/21). Atypical symptoms were reported sporadically and without clinical severity: abdominal pain (8 patients), nauseas/vomits (3 patients), arthralgia (3 patients), hepatosplenomegaly (1 patient), lactose intolerance (1 patient). Eighteen patients received treatment with one dose of prednisolone with rapid symptomatic relief. In two patients subsequent crises became more frequent for a short period of time and then returned to monthly periodicity. Seven treated patients experienced less frequent episodes and in four of them this occurred after diagnosis but before first dose of prednisolone. In the three untreated patients the crises bécame rare and treatment was not prescribed. Tonsillectomy was performed in two patients and in one the monthly episodes reappeared five months after the procedure. In spite including a small number of patients, our case series is similar to others in the literature regarding most clinical aspects. PFAPA syndrome should be considered even in the absence of all clinical criteria. Correct and timely diagnosis does not require and obviates unnecessary diagnostic tests. The outcome after symptomatic therapy with corticosteroids and family reassurance was generally good and we do not recommend tonsillectomy as a first line treatment in this syndrome.