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Henry M. Feder - One of the best experts on this subject based on the ideXlab platform.

  • PFAPA: Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis
    Infectious Diseases in Pediatric Otolaryngology, 2016
    Co-Authors: Katherine R. Kavanagh, Henry M. Feder
    Abstract:

    Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis (PFAPA) is a Periodic Fever syndrome in children. The etiology is unknown, and the course is usually self-limited taking 3–5 years to resolve. Treatment options include watchful waiting, medical management in the form of episodic oral steroids (for each episode which are very effective) or H2 blockers (which are used prophylactically and resolve the syndrome in less than 25 % of patients), or surgical management in the form of tonsillectomy (which resolve the syndrome in greater than 90 % of patients).

  • Periodic Fever, aphthous stomatitis, pharyngitis, adenitis: a clinical review of a new syndrome.
    Current opinion in pediatrics, 2000
    Co-Authors: Henry M. Feder
    Abstract:

    Periodic Fevers (Fevers that occur predictably at fixed intervals) are unusual in infants and children. The classic Periodic Fever syndrome is cyclic neutropenia (neutropenia followed by infections and Fever that recur every 21 days). A new Periodic Fever syndrome PFAPA (Periodic Fever, aphthous stomatitis, pharyngitis, and cervical adenitis) has been characterized over the past decade. PFAPA is defined clinically, because specific laboratory abnormalities have not been found. The clinical characteristic of PFAPA is high Fevers (usually 40.0 degrees C to 40.6 degrees C) recurring at fixed intervals every 2 to 8 weeks. The Fevers last for about 4 days, then resolve spontaneously. Associated with the Fevers are aphthous stomatitis in 70% of patients, pharyngitis in 72% of patients, and cervical adenitis in 88% of patients. PFAPA is not familial and begins before the age of 5 years. An episode of PFAPA can be aborted with one or two small doses of prednisone. The episodes of PFAPA may last for years and the patient is well between episodes. The cause of PFAPA is unknown and there are no reported sequelae.

  • Periodic Fever syndrome in children.
    The Journal of pediatrics, 1999
    Co-Authors: Kenneth Tyson Thomas, Henry M. Feder, Alexander R. Lawton, Kathryn M. Edwards
    Abstract:

    Abstract Objectives: To describe the presentation, clinical course, therapeutic response, and long-term follow-up of patients with a syndrome of Periodic Fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). Study design: Patients with PFAPA (n = 94) referred over a 10-year period completed a registry form and provided medical records. Follow-up telephone calls were made in late 1997 to determine the persistence of episodes and sequelae. Results: PFAPA episodes lasted 4.8 days (95% confidence interval 4.5 to 5.1) and recurred every 28 days (confidence interval 26 to 30), with a maximal temperature of 40.5° C (confidence interval 40.4° to 40.6°). Of the 83 children available for follow-up, 34 no longer had episodes. In the remainder the episodes did not differ in character but recurred less frequently over time. The affected children had no long-term sequelae. Glucocorticoids were highly effective in controlling symptoms. Tonsillectomy and cimetidine treatment were associated with remission in a small number of patients. Conclusions: PFAPA is a not uncommon cause of Periodic Fever in children. In some children the syndrome resolves, whereas symptoms in others persist. Long-term sequelae do not develop. The syndrome is easily diagnosed when regularly recurring episodes of Fever are associated with aphthous stomatitis, pharyngitis, or cervical adenitis. (J Pediatr 1999;135:15-21)

Raquel Domingos - One of the best experts on this subject based on the ideXlab platform.

  • Periodic Fever with Pharyngitis, Aphthous Stomatitis and Cervical Adenitis Syndrome: A Rare Cause of Fever in Adults.
    European journal of case reports in internal medicine, 2019
    Co-Authors: Diogo Paixão Marques, Sara Rocha, Marta Catarino Manso, Raquel Domingos
    Abstract:

    Periodic Fever with pharyngitis, aphthous stomatitis and cervical adenitis (PFAPA syndrome) is a common cause of Periodic Fever in children and usually manifests as episodes of Fever recurring with a clockwork Periodicity. Although rare after adolescence, adult patients with PFAPA syndrome may present with a wider range of symptoms and may lack the clockwork Periodicity of Fever. A 24-year-old patient presented with a 4-year history of Periodic Fever with pharyngitis and cervical adenitis. She also complained of vomiting, fatigue and sporadically presented with aphthous stomatitis. During crises, laboratory evaluation showed a moderate elevation of inflammatory markers. Blood cultures and ANA titres were negative. Immunoglobulins and serum ferritin levels were normal. After other causes of Periodic Fever had been excluded, a diagnosis of PFAPA syndrome was made. LEARNING POINTS PFAPA syndrome is characterized by Periodic Fever accompanied by pharyngitis, aphthous stomatitis and cervical adenitis.It is a common cause of Periodic Fever in children but can also present in adults with a wider range of clinical manifestations.Establishing a firm diagnosis of PFAPA syndrome may avoid excessive work-up and potentially harmful treatment.

  • Periodic Fever with Pharyngitis, Aphthous Stomatitis and Cervical Adenitis Syndrome: A Rare Cause of Fever in Adults
    SMC MEDIA SRL, 2019
    Co-Authors: Diogo Paixão Marques, Sara Rocha, Marta Manso, Raquel Domingos
    Abstract:

    Periodic Fever with pharyngitis, aphthous stomatitis and cervical adenitis (PFAPA syndrome) is a common cause of Periodic Fever in children and usually manifests as episodes of Fever recurring with a clockwork Periodicity. Although rare after adolescence, adult patients with PFAPA syndrome may present with a wider range of symptoms and may lack the clockwork Periodicity of Fever. A 24-year-old patient presented with a 4-year history of Periodic Fever with pharyngitis and cervical adenitis. She also complained of vomiting, fatigue and sporadically presented with aphthous stomatitis. During crises, laboratory evaluation showed a moderate elevation of inflammatory markers. Blood cultures and ANA titres were negative. Immunoglobulins and serum ferritin levels were normal. After other causes of Periodic Fever had been excluded, a diagnosis of PFAPA syndrome was made

Toshio Heike - One of the best experts on this subject based on the ideXlab platform.

  • Hyperimmunoglobulinemia D and Periodic Fever syndrome
    Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology, 2011
    Co-Authors: Hidemasa Sakai, Toshio Heike
    Abstract:

    Hyperimmunogloblinemia D and Periodic Fever syndrome (HIDS) is inherited autoinflammatory syndrome caused by deficiency of the mevalonate kinase (MK), which is involved in metabolism of cholesterol. The disease is characterized as Periodic Fever from early infancy accompanied by elevated serum C-reactive protein. Since clinical symptoms such as abdominal symptom, skin rash, and arthritis are common to other autoinflammatory disease, the diagnosis of HIDS during clinical work is difficult for the physicians without suspicion of HIDS for infants suffering from Fever of unknown origin. Moreover, serum IgD levels are not high during infancy conflicting to the name of the disease, which is often misunderstood in the clinicians. Thus, the diagnosis of HIDS in Japan is bothering, depending on the lack of correct recognition of the disease and on the lack of commercially available examination for the disease. It is important for clinicians, especially pediatricians to update current knowledge about HIDS and to learn the appropriate way to the definitive diagnosis of HIDS, because HIDS patients exist also in Japan and the specific therapies for HIDS would be developed in the near future.

  • Familial cases of Periodic Fever with aphthous stomatitis, pharyngitis, and cervical adenitis syndrome.
    The Journal of pediatrics, 2010
    Co-Authors: Masao Adachi, Aika Watanabe, Atsushi Nishiyama, Yoshinobu Oyazato, Ichiro Kamioka, Masanori Murase, Akihito Ishida, Hidemasa Sakai, Ryuta Nishikomori, Toshio Heike
    Abstract:

    We report three familial cases of Periodic Fever with aphthous stomatitis, pharyngitis, and cervical adenitis syndrome, including a pair of monozygotic twins and their mother. It suggests that Periodic Fever with aphthous stomatitis, pharyngitis, and cervical adenitis syndrome may have a certain monogenetic background.

Brian Wispelwey - One of the best experts on this subject based on the ideXlab platform.

J.p.h. Drenth - One of the best experts on this subject based on the ideXlab platform.

  • Hereditary Periodic Fever and reactive amyloidosis
    Clinical and Experimental Medicine, 2005
    Co-Authors: J. C. H. Hilst, Anna Simon, J.p.h. Drenth
    Abstract:

    Hereditary Periodic Fever syndromes (HPF) are a group of diseases characterised by recurrences of Fever and inflammation separated by symptom-free intervals. Familial Mediterranean Fever (FMF) is the most frequent entity within this group of disorders which further consists of hyperimmunoglobulinaemia D and Periodic Fever syndrome (HIDS), tumour necrosis factor receptor-associated Periodic syndrome (TRAPS) and cryopyrin-associated Periodic syndrome (CAPS). In recent years the causative genes have been identified. Reactive amyloidosis is a severe complication of HPFs. This is caused by deposition of fibrils that consist of the proteolytically cleaved acutephase protein serum amyloid A (SAA). Several factors have been identified that modulate the risk for developing amyloidosis, including SAA concentrations, polymorphisms in the SAA gene and ethnic origin. Furthermore, the risk of developing amyloidosis varies widely between the different HPFs. Colchicine is the cornerstone in the management of FMF, as it reduces the severity and frequency of attacks and is also effective in preventing amyloidosis. In the other HPFs, the introduction of anticytokine-based therapies is a promising new option in treating these inflammatory conditions and they potentially can prevent amyloidosis.

  • Hereditary Periodic Fever
    The New England journal of medicine, 2001
    Co-Authors: J.p.h. Drenth, J.w.m. Van Der Meer
    Abstract:

    Fever of undetermined origin may be familial and have a Periodic course. This article discusses three syndromes of hereditary Periodic Fever: familial Mediterranean Fever, the hyper-IgD syndrome, and the tumor necrosis factor receptor–associated Periodic syndrome. Each is caused by mutations in different genes and affects different ethnic groups. Important recent advances in our understanding of the pathophysiology of these disorders are presented in this review article.

  • HYPERIMMUNOGLOBULINEMIA D AND Periodic Fever SYNDROME. THE CLINICAL SPECTRUM IN A SERIES OF 50 PATIENTS
    Medicine, 1994
    Co-Authors: J.p.h. Drenth, C.j. Haagsma, J.w.m. Van Der Meer
    Abstract:

    We studied 50 patients (28 male and 22 female) with the hyper-IgD and Periodic Fever syndrome. Most patients originated from Europe, namely The Netherlands (28 cases; 56%), France (10 cases, 20%), and Italy (3 cases, 6%), but 1 patient was from Japan. A hereditary component is suggested by 18 patients coming from 8 families. The syndrome is typified by a very early age at onset (median, 0.5 years) and life-long persistence of Periodic Fever. Characteristically, attacks occur every 4-8 weeks and continue for 3-7 days, but the individual variation is large. Attacks feature high spiking Fever, preceded by chills in 76% of patients. Lymphadenopathy is commonly present (94% of patients). During attacks, 72% of patients complained of abdominal pains, 56% of vomiting, 82% of diarrhea, and 52% of headache. Joint involvement is common in the hyper-IgD syndrome with poly-arthralgia in 80% and a non-destructive arthritis, mainly of the large joints (knee and ankle), in 68% of patients. Eighty-two percent of patients reported skin lesions with some attacks; these demonstrated vasculitis histologically. Serositis has been seen in only 3 patients (6%), while amyloidosis has not been recorded in any of the patients with this syndrome. Immunizations precipitated attacks in 54% of patients. All patients had a persistently elevated serum IgD level (> 100 U/mL), and in 82% of cases the serum IgA was likewise elevated. During attacks there is an acute-phase response adjudged by leukocytosis, neutrophilia, and increased ESR. The etiology remains to be elucidated, and treatment is supportive. The hyper-IgD syndrome is distinct from other Periodic Fever syndromes like systemic-onset juvenile rheumatoid arthritis, adult-onset Still disease, and familial Mediterranean Fever.