PFAPA Syndrome: Clinical, Laboratory and Therapeutic Features in a Single-Centre Cohort

Lazea, Cecilia; Damian, Laura; Vulturar, Romana; Lazăr, Călin

doi:10.2147/ijgm.s373942

Cited by 3 publications

(2 citation statements)

References 57 publications

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“…PFAPA syndrome was previously discussed for the presence of anti-mCRP autoantibodies, but CRP can also show significantly elevated values (mean 79 mg/L, mean 185 mg/L) [ 499 , 500 ]. Moreover, low to moderate hsCRP has been associated with gingivitis and chronic periodontitis, with the latter showing slightly higher values [ 501 , 502 , 503 ].…”

Section: Current Evidence On C-reactive Protein and Potential Conditionsmentioning

confidence: 99%

C-Reactive Protein: Pathophysiology, Diagnosis, False Test Results and a Novel Diagnostic Algorithm for Clinicians

Mouliou

2023

Diseases

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The current literature provides a body of evidence on C-Reactive Protein (CRP) and its potential role in inflammation. However, most pieces of evidence are sparse and controversial. This critical state-of-the-art monography provides all the crucial data on the potential biochemical properties of the protein, along with further evidence on its potential pathobiology, both for its pentameric and monomeric forms, including information for its ligands as well as the possible function of autoantibodies against the protein. Furthermore, the current evidence on its potential utility as a biomarker of various diseases is presented, of all cardiovascular, respiratory, hepatobiliary, gastrointestinal, pancreatic, renal, gynecological, andrological, dental, oral, otorhinolaryngological, ophthalmological, dermatological, musculoskeletal, neurological, mental, splenic, thyroid conditions, as well as infections, autoimmune-supposed conditions and neoplasms, including other possible factors that have been linked with elevated concentrations of that protein. Moreover, data on molecular diagnostics on CRP are discussed, and possible etiologies of false test results are highlighted. Additionally, this review evaluates all current pieces of evidence on CRP and systemic inflammation, and highlights future goals. Finally, a novel diagnostic algorithm to carefully assess the CRP level for a precise diagnosis of a medical condition is illustrated.

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Section: Current Evidence On C-reactive Protein and Potential Conditionsmentioning

confidence: 99%

C-Reactive Protein: Pathophysiology, Diagnosis, False Test Results and a Novel Diagnostic Algorithm for Clinicians

Mouliou

2023

Diseases

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“…Instead, treatment is based on IL-1 inhibitors for CAPS and MKD [ 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ]. For patients with PFAPA syndrome treatment is merely symptomatic and focused on low-dose corticosteroids during the febrile attack, while there is limited experience on the use of IL-1 inhibitors for very few adult patients [ 23 , 24 , 25 , 26 , 27 ].…”

Section: Introductionmentioning

confidence: 99%

Current Evidence on Vaccinations in Pediatric and Adult Patients with Systemic Autoinflammatory Diseases

et al. 2023

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Systemic autoinflammatory diseases (SAIDs) are defined by recurrent febrile attacks associated with protean manifestations involving joints, the gastrointestinal tract, skin, and the central nervous system, combined with elevated inflammatory markers, and are caused by a dysregulation of the innate immune system. From a clinical standpoint, the most known SAIDs are familial Mediterranean fever (FMF); cryopyrin-associated periodic syndrome (CAPS); mevalonate kinase deficiency (MKD); and periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) syndrome. Current guidelines recommend the regular sequential administration of vaccines for all individuals with SAIDs. However, these patients have a much lower vaccination coverage rates in ‘real-world’ epidemiological studies than the general population. The main purpose of this review was to evaluate the scientific evidence available on both the efficacy and safety of vaccines in patients with SAIDs. From this analysis, neither serious adverse effects nor poorer antibody responses have been observed after vaccination in patients with SAIDs on treatment with biologic agents. More specifically, no new-onset immune-mediated complications have been observed following immunizations. Post-vaccination acute flares were significantly less frequent in FMF patients treated with colchicine alone than in those treated with both colchicine and canakinumab. Conversely, a decreased risk of SARS-CoV-2 infection has been proved for patients with FMF after vaccination with the mRNA-based BNT162b2 vaccine. Canakinumab did not appear to affect the ability to produce antibodies against non-live vaccines in patients with CAPS, especially if administered with a time lag from the vaccination. On the other hand, our analysis has shown that immunization against Streptococcus pneumoniae, specifically with the pneumococcal polysaccharide vaccine, was associated with a higher incidence of adverse reactions in CAPS patients. In addition, disease flares might be elicited by vaccinations in children with MKD, though no adverse events have been noted despite concurrent treatment with either anakinra or canakinumab. PFAPA patients seem to be less responsive to measles, mumps, and rubella-vaccine, but have shown higher antibody response than healthy controls following vaccination against hepatitis A. In consideration of the clinical frailty of both children and adults with SAIDs, all vaccinations remain ‘highly’ recommended in this category of patients despite the paucity of data available.

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Periodic fever syndromes in Chinese children and adolescents: a single-centre cohort study

Chen,

Li,

Yang

et al. 2024

Preprint

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Objective: Periodic fever syndromes (PFS) are a broad group of autoinflammatory diseases characterised by recurrent episodes of fever in the absence of microbial, autoimmune or malignant conditions. We aimed to evaluate the clinical and genetic characteristics of patients with periodic fever syndrome. And to evaluate the safety and efficacy of colchicine in the treatment of PFS. Methods: This study included patients diagnosed with PFS between April 2021 and January 2024 at Bei Jing Children's Hospital, Immunology Department. We retrospectively analyzed the clinical data (clinical features, laboratory findings and genetic features). The onset of the disease and adverse events following the use of colchicine were also analysed. Results: A total of 130 patients were included in this study, with a male to female ratio of 1.2:1. The mean (95% CI) ages at symptom onset and diagnosis were 3.59(3.06-4.11) years and 5.33(4.79-5.87) years, respectively. The average duration of the febrile episode is 3.92 days and the average frequency of the febrile episode is 3.44 weeks. During PFS flares, leukocytes, neutrophils, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were significantly higher than in inter-episode periods. The most frequently detected gene mutation is MEFV. Thirty-five patients were free of clinical symptoms 5 month after taking colchicine. Conclusion: We present a cohort of children and adolescence with periodic fever syndrome. The most common PFS is PFAPA and the most common gene mutation in PFS patients is MEFV. Colchicine is a safe and effective drug for the treatment of PFS.

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PFAPA Syndrome: Clinical, Laboratory and Therapeutic Features in a Single-Centre Cohort

Cited by 3 publications

References 57 publications

C-Reactive Protein: Pathophysiology, Diagnosis, False Test Results and a Novel Diagnostic Algorithm for Clinicians

C-Reactive Protein: Pathophysiology, Diagnosis, False Test Results and a Novel Diagnostic Algorithm for Clinicians

Current Evidence on Vaccinations in Pediatric and Adult Patients with Systemic Autoinflammatory Diseases

Periodic fever syndromes in Chinese children and adolescents: a single-centre cohort study

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