Familial Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) Syndrome; is it a Separate Disease?

Introduction: PFAPA is the most common periodic fever syndrome in the pediatric population yet pathogenesis is unknown. PFAPA was believed to be sporadic but family clustering has been widely observed.Objective: To identify demographic and clinical differences between patients with PFAPA and a positive family history (FH+) compared to those with PFAPA with no family history (FH-).Methods: In a database comprising demographic and clinical data of 273 pediatric PFAPA patients treated at two tertiary centers in Israel, 31 (14.3%) of patients were PFAPA FH+. Data from patients with FH+ for PFAPA was compared to data from those with FH- of the disorder. Furthermore, family members (FMs) of those with FH+ were contacted via telephone for more demography and clinical details. Results: FH+ group had more headaches (32% vs.2%; p= 0.016), myalgia (56% vs. 19%; p= 0.001), higher carrier frequency of M694V mutation (54% vs. 25%; p=0.053), greater family history of FMF (30% vs. 15%; p=0.096) and better outcomes with colchicine (82% vs. 52%; p=0.096) compared to those with FH-. FMs displayed almost identical characteristics to the FH+ group except for greater arthralgia during flares (64% vs. 23%; p=0.008) and compared to the FH- group, more oral aphthae (68% vs. 43%; p=0.002), myalgia/arthralgia (64% vs. 19%/16%; p<0.0001), and higher rates of FH of FMF (45% vs.15%; p=0.003). Conclusions: Our findings suggest that FH+ likely experience a different subset of disease with higher frequency of family history of FMF, arthralgia, myalgia and better response to colchicine compared to FH-. Colchicine prophylaxis for PFAPA should be considered in FH+.

MO961KIDNEY TRANSPLANTATION AS A TREATMENT OF CHOICE FOR AA AMYLOIDOSIS DUE TO PERIODIC FEVER SYNDROME

Background and Aims Renal AA amyloidosis is the most serious complication of periodic fever syndrome, which, inadequate suppression, due to persistent inflammation, leads to nephrotic syndrome and renal failure over several years. In most cases, periodic fever syndromes begin to manifest clinically in early childhood. Occurrence in adulthood is considered rare and is associated with a poorer clinical course. Kidney transplantation is an effective and safe treatment for end-stage chronic kidney disease (CKD) based on AA amyloidosis. Method We present cases of two patients after deceased donor kidney transplantation, who have been diagnosed with adult periodic fever syndrome. Conclusion Periodic fever syndromes are diseases beginning to manifest clinically in early childhood in 60–90% of cases, most often in the case of familial Mediterranean fever around 4 years of age, in the case of CAPS usually only a few months after birth. Occurrence in adulthood is considered rare and is associated with a poorer clinical course. Kidney transplantation is an effective and safe treatment of end-stage CKD based on AA amyloidosis associated with periodic fever syndrome. Adequate targeted treatment against IL-1 or TNF is important and appears to be safe during the post-transplant period, with regular monitoring of renal function, acute phase inflammatory reactants, and histological findings by protocol graft biopsies. It will be important and necessary to assess the development of diseases in the post-transplant period in the long term.

Management of Fever Attack in a Patient with PFAPA Syndrome

Fever is a common symptom in childhood and primarily suggests infectious diseases. The syndrome of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA syndrome) is a periodic fever syndrome of unknown incidence and is not rare in childhood. In this case report, the management of a patient who was followed up for PFAPA syndrome during a fever attack is presented.

Una PFAPA che diventa un Behçet

PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) is the most common periodic fever syndrome in children. The disease appears to cluster in families, but the pathogenesis is unknown. The paper reports the description of a clinical case of a 12-year-old girl diagnosed with PFAPA syndrome from the age of one and half years. The exacerbations did not decrease with growth as it usually happens, but genital ulcers appeared associated with HLA-B51 positivity, orienting the diagnosis towards Behçet’s spectrum disorders.

Abdominal syndrome in so-called «Outinflammatory diseases»; Two cases of family Mediterranean fever

The aim — on the example of the analysis of clinical observations, the authors draw attention to various variants of the course of the classic auto — inflammatory disease-familial Mediterranean fever (SSL) with severe abdominal syndrome.Materials and methods: the article present clinical material on two observations of patients with SSL in clinical symptoms, which were dominated by abdominal syndrome, from the moment of their request for medical care to the verification of the diagnosis.Results: The article presents brief information about the diseases of the group of auto-inflammatory (periodic fever syndrome with mevalonatkinase deficiency, TRAPS-syndrome, Crohn’s disease, familial Mediterranean fever), in the manifestation of which gastroenterological symptoms play a significant role. An example of «early» and «late» diagnosis of auto-inflammatory diseases is illustrated by the results of the analysis of two clinical cases of patients with SSL.The analysis of the analyzed clinical cases confirms the multidisciplinary nature of the problem of auto-inflammatory diseases and the importance of readiness not only of rheumatologists, but also of other specialists to make such a diagnosis.