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Rheumatic Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
Once a clinical pattern is determined to be consistent with one of the major autoinflammatory disorders, genetic testing is then typically employed to confirm a clinically suspected entity.
Munchausen’s syndrome and related factitious disorders
Published in David Enoch, Basant K. Puri, Hadrian Ball, Uncommon Psychiatric Syndromes, 2020
David Enoch, Basant K. Puri, Hadrian Ball
Wittkowski et al. (2017) reported an informative case report of a male child who presented with clinical signs from the age of 5 months onwards which were erroneously attributed, until the age of 3 years, to systemic autoinflammatory disease. A very large number of investigations were carried out, from blood tests and gene sequencing to bone marrow aspiration and skin biopsies; these all gave normal results. At the age of 3 years, the child was diagnosed as being a victim of MSBP, the perpetrator being his mother; the probable causes of some of the physical presenting signs were thought to be mechanical irritation (erythematous, bullous and necrotising skin lesions), addition of maternal blood (macrohaematuria) and the application of capsaicin (facial swelling).
Rheumatology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Clarissa Pilkington, Kiran Nistala, Helen Lachman, Paul Brogan
Autoimmune or autoinflammatory diseases: JIA-particularly the systemic form.JDM.SLE.undifferentiated connective tissue disease.sarcoidosis.Behçet disease.
Keratoconjunctivitis as a Single Entity in X-linked Agammaglobulinemia?
Published in Ocular Immunology and Inflammation, 2023
Stefan Mielke, Bastian Grundel, Sebastian M. Schmidt, Frank Tost
A fast diagnosis and therapy of a keratoconjunctivitis is of high importance if corneal vascularization and clouding are threatening visual acuity. In case of unspecific symptoms, a broad diagnostic approach is necessary to take ocular causes and general diseases into consideration at the same time. There is a wide range of systemic disorders, which can also cause changes in the cornea. Exemplarily, viral and bacterial infections, endocrine diseases and storage disorders are possible. Autoinflammatory and infectious diseases might be additional reasons. In single cases, it becomes more difficult to distinguish corneal affections from a systemic disorder if the relationship is not well known and more than one reasons are possible for the corneal changes. During the single steps of diagnosis also a systemic disorder like a primary immunodeficiency should be considered in case of a chronic keratoconjunctivitis – especially in children or young patients. If a humoral immunodeficiency is suspected, genetic tests for identification of mutations should be conducted in the patient as well as in members of the family.
Clinical phenotypes and genetic analyses for diagnosis of systemic autoinflammatory diseases in adult patients with unexplained fever
Published in Modern Rheumatology, 2021
Yukiko Hidaka, Kyoko Fujimoto, Norikazu Matsuo, Takuma Koga, Shinjiro Kaieda, Satoshi Yamasaki, Munetoshi Nakashima, Kiyoshi Migita, Manabu Nakayama, Osamu Ohara, Tomoaki Hoshino, Ryuta Nishikomori, Hiroaki Ida
In the search for pathogenic variants in 10 disease genes other than MEFV, diagnosis was not made for cryopyrin-associated periodic syndromes (CAPS) [23], Blau syndrome [24], familial cold-induced autoinflammatory syndrome 2 (FCAS2) [25], NLRC4-associated macrophage activation syndrome [26,27], and PLAID/APLAID [28,29] with variants in responsible genes NLRP3, NOD2, NLRP12, NLRC4, and PLCG2, respectively. In recent years, there have been reported cases of SAIDs that exhibit various symptoms associated with the identified disease gene other than the main clinical symptoms of SAIDs [14,15], especially undefined autoinflammatory disease with NLRP3 variants [15,30], NOD2-associated autoinflammatory disease (Yao syndrome) [31], NLRP12 autoinflammatory disease (NLRP12-AD) [14,32], and NLRC4-related autoinflammatory disease [33]. In the cases in this study, clinical symptoms of these 4 autoinflammatory diseases were not reached to clinical diagnosis of each SAID. However, because many of these diseases have symptoms of fever, the rare variants identified on these SAID gene may be associated with fever. Ter Haar and colleagues [34] conducted a clinical and genetic analysis on 187 cases with fever but no diagnosis of SAIDs as ‘undefined autoinflammatory disease’. The most common symptoms in addition to fever were arthralgia, myalgia, and abdominal pain, which was similar to our study. The researchers stated that the lack of complete genetic analysis was a challenge [34].
Vitamin D binding protein genotype frequency in familial Mediterranean fever patients
Published in Scandinavian Journal of Rheumatology, 2020
C Orhan, B Seyhan, O Baykara, M Yildiz, O Kasapcopur, N Buyru
In this cross-sectional study, patients were recruited from Istanbul University–Cerrahpasa, Cerrahpasa Medical Faculty, Rheumatology Clinics. After physical and clinical examination by the rheumatologist, peripheral blood of 107 patients [68 (63.6%) females, 39 (36.4%) males] who applied for MEFV gene analysis to the Molecular Genetics Laboratory, Cerrahpasa Medical Faculty between April 2015 and June 2016 was used. The diagnosis of FMF was made according to the clinical findings in light of previously published and highly accepted diagnostic criteria (16, 17). All of the patients met the Tel-Hashomer diagnostic criteria. Inflammation was evaluated according to the manifestation of peritonitis, arthritis, and/or pleurisy. Patients with signs suggestive of autoinflammatory diseases other than FMF and patients who did not meet the criteria were excluded from the study. Blood samples of 25 healthy volunteers [(12 females (48%), 13 males (52%)] who were also examined by the rheumatologist were used as controls. None of the control subjects had FMF and/or a family history. To make sure of this, the FMF gene analysis was also performed for the control subjects.