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History Taking
Published in Pudupakkam K Vedanthan, Harold S Nelson, Shripad N Agashe, PA Mahesh, Rohit Katial, Textbook of Allergy for the Clinician, 2021
Gabriel K Wong, Mamidipudi Thirumala Krishna
Urticaria is well demarcated, raised and erythematous with a pale centre and is often associated with intense itching. It may occur with or without the presence of angioedema. It is important to understand that urticaria is not diagnostic of a type 1 hypersensitivity and may also be seen in a number of non-allergic disorders. Individual lesions of simple urticaria usually last for < 24 hours with complete resolution. In contrast, urticarial vasculitis is painful, burning and on resolution usually leaves bruising, scarring and/or hyperpigmentation. According to the European Association of Allergology and Clinical Immunology (EAACI) urticaria can be categorized into acute (< 6 weeks) or chronic (> 6 weeks). Recurrent episodes lasting for more than 6 weeks are unlikely to be caused by allergy and should prompt the clinician to search for other physical, inflammatory or idiopathic causes of urticaria. Urticaria may occur on any cutaneous surface, determining whether it is localized or systemic could be helpful especially in the case of drug allergy, insect venom allergy and oral allergy syndrome. Cholinergic urticaria which is a type of physical urticaria mainly occurs under the armpits, groins and lower limbs. Rarely urticaria may be associated with periodic fever syndrome (Zuberbier et al. 2006).
TNFRSF1A Mutations in Italian Patients Affected by Apparently Sporadic Periodic Fever Syndrome
Published in Gilles Grateau, Robert A. Kyle, Martha Skinner, Amyloid and Amyloidosis, 2004
L. Obici, S. Marciano, G. Palladini, F. Lavatelli, S. Donadei, A. Cigni, A.E. Satta, L. Praderio, M. Tresoldi, G. Merlini
A TNFRSF1A mutation was identified in eight patients (17%) affected by apparently sporadic periodic fever syndrome. Four different variants were found, namely Cys30Tyr, Cys43Arg, Thr50Met and Arg92Gln, the first two being novel (Figure 1). These new substitutions abrogate a disulfide bond in the first extracellular cysteine-rich subdomain of TNFRSF1A. Screening of 200 Italian control chromosomes did not reveal any carrier for these variants, further supporting their pathogenic role.
Unexplained Fever in the Pediatric Age Group
Published in Benedict Isaac, Serge Kernbaum, Michael Burke, Unexplained Fever, 2019
Periodic disorders such as familial Mediterranean fever (FMF), periodic fever, and etiocholanolone fever have in common the appearance of fever for a few days, followed by long periods of normal temperature (weeks or months in FMF, and 7 to 21 days in periodic fever). Etiocholanolone fever has been described in patients with recurrent fever and elevated level of this unconjugated steroid in the serum. More recently, the existence of this entity has been questioned.37 In contrast, FMF affects a relatively large number of children and adolescents. High fever lasting for a few days can be the only symptom, but most children will complain of colicky abdominal pain which will frequently be diagnosed as acute appendicitis. Serum fibrinogen levels will rise during the attack, and may remain permanently increased, similarly to the ESR. Arthralgia or arthritis is occasionally encountered and amyloidosis and renal failure are later complications. A positive family history and Jewish-Sephardic, Armenian, or Arab origin will increase the index of suspicion. In 1984, Van der Meer and colleagues reported on six patients of Dutch ancestry with a clinical picture similar to FMF.38 All patients had recurrent attacks of fever of unknown cause, beginning in infancy or childhood. In addition to FMF-typical signs and symptoms, generalized lymphadenopathy was found. Also present were high serum IgD levels and a large number of plasma cells with cytoplasmic IgD in the bone marrow. Similarly to FMF, colchicine therapy induced remissions in these patients. In the ‘periodic fever syndrome’ described initially by Rei-mann, 39 the afebrile interval appeared to be quite regular and short, and the patients were neutropenic.
Diagnosis and treatment of autoinflammatory diseases in adults: a clinical approach from rheumatologists
Published in Immunological Medicine, 2018
Tomohiro Koga, Atsushi Kawakami
The spectrum of autoinflammatory diseases has been extended to not only the hereditary recurrent fever syndromes, including familial Mediterranean fever (FMF), tumor necrosis factor (TNF)-related periodic fever syndrome (TRAPS) and cryopyrin-associated periodic syndrome (CAPS), but also uncertain genetic etiologies including adult-onset Still disease, Behcet's disease and gout [3]. Since hereditary autoinflammatory diseases usually develop in early childhood, many cases are diagnosed in the pediatric field. However, because of recent advances in genetic diagnoses as well as cases diagnosed for the first time in adulthood, it is apparent that rheumatologists and physicians can play a major role in the diagnosis and treatment of autoinflammatory diseases.
Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine
Published in Autoimmunity, 2019
Qingping Yao, Ellen Li, Bo Shen
A PubMed search was conducted for the literature between 1997 and April 2018. The systematic search was limited to publications in English since 1997, when the familial Mediterranean fever candidate gene was first reported, and the following keywords were used: “autoinflammatory disease”, “periodic fever syndrome”, “familial Mediterranean fever”, “Crohn’s disease”, “chromosome 16”, “NOD2’’, “genomic medicine” and “digenic variant”. The computerized search was completed with a manual search of pertinent reference lists from the relevant articles retrieved.
A case of familial Mediterranean fever triggered by acute adrenal insufficiency due to an abrupt withdrawal of corticosteroids
Published in Modern Rheumatology Case Reports, 2018
Taro Watanobe, Tomohiro Koga, Masataka Umeda, Kunihiro Ichinose, Kiyoto Ashizawa, Takao Ando, Atsushi Kawakami
We thus encountered a rare case of FMF that developed after acute adrenal insufficiency successfully treated with colchicine. Other autoinflammatory diseases such as hyperimmunoglobulinaemia D with periodic fever syndrome, cryopyrin-associated periodic syndromes and tumour necrosis factor receptor-associated periodic syndrome were excluded based on his medical history, physical findings and laboratory findings [6,7].