PFAPA (periodic fevers with aphthous stomatitis, pharyngitis, and adenitis) syndrome is a periodic fever syndrome that typically manifests between ages 2 years and 5 years; it is characterized by febrile episodes lasting 3 to 6 days, pharyngitis, aphthous ulcers, and adenopathy.Etiology and pathophysiology are undefined. Most autoinflammatory diseases are genetic and the first symptoms start in childhood, but most are chronic lifelong diseases. Patients homozygous for M694V mutation or compound heterozygous for M694V and another disease-causing mutation (V726A-E148Q) should start chronic colchicine therapy as soon as diagnosis confirmed by genotyping. Review on therapy with biologic drugs and case report”. Gain-of-function mutations in NLRP3 cause constitutive inflammasome activation and increase caspase-1 activity, resulting in excessive IL-1beta release, uncontrolled inflammation, and tissue injury.
This is because these diseases occur only rarely, and have symptoms common to many other diseases.
Daily fatigue, headache, and myalgias, even without cold exposure, contribute to considerable morbidity. Amyloidosis in GI tract in 20% patients; presents as diarrhea and malabsorption. Goldbach-Mansky, Kastner, DL. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children.
Renal or rectal biopsy and staining for amyloid deposition Pyrin plays an intrinsic role in regulation of granulocyte and monocyte function during inflammatory responses.
Activation of the intracellular multi-protein complex called the “inflammasome”The inflammasome is comprised of NLRP3, caspase-1 and ASC (apoptosis-associatedInflammasome stimulation activates caspase-1, which converts IL-1beta to its bioactive form.
Many patients with clinical features of TRAPS do not have identified TNFRSF1AHomozygous or compound heterozygous mutations in the mevalonate kinase (MVK)>25% patients with typical HIDS symptoms and elevated serum IgD lack MVKAutosomal dominant (gain-of-function) mutations in the NLRP3 (CIASI)10% of FCAS, 25% of MWS and 30%-50% of NOMID/CINCA lack identifiable NLRP3The hallmark of innate immunity is the rapid generation and release of proinflammatory cytokines, including IL-1beta, TNF-alpha, and IL-6, in response to “danger signals” such as microbial products, toxins, and metabolic stress. Marked leukocytosis with left shift in association with ESR >80 and CRP >80 suggest infection. Carrier rate: 1:5 in Ashkenazi Jews, but prevalence of disease lower since most common mutation is associated with mild disease. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods. Genotype: phenotype correlations and controversies affecting treatment decisions in FMF: Genotyping may guide treatment and long-term prognosis. Serum amyloid A (SAA) level may reflect active amyloid deposition and guide therapy. MWS (Muckle-Wells syndrome): Characterized by recurrent but unpredictable attacks of fever >38.5°C and urticaria lasting for 1-3 days, although some symptoms may persist. “The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder”.
Chest x-ray can be helpful when infection, inflammatory lung disease, or serositis (pleuritis, pericarditis) is suspected.
Best regards, [Name] Periodic fever syndromes (PFS) are a group of rare autoinflammatory diseases characterized by inappropriate, uncontrolled, and often spontaneous signs and symptoms of inflammation.
Prodromal symptoms such as chills, fatigue and URI are common.
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