title: First Case of TNF-Receptor-Associated Autoinflammatory Syndrome (TRAPS) in Bulgaria.
abstract: TRAPS is a very rare disease with an estimated prevalence of about one per million. We present a 53-year-old patient from Bulgaria. The clinical features of the disease are periodic fever, arthralgia, myalgia, rash, abdominal pain and hepatosplenomegaly. Laboratory studies yield leukocytosis, highly elevated levels of CRP, significantly high ESR. Secondary amyloidosis AA is determined. The genetic analysis found a heterozygous T>C nucleotide substance (c.250T>C) in exon 3 of TNFRSF1A gene which is associated with ТRAPS (MIM*191190). The presented case of genetic changes and clinical manifestations in the autoinflammatory syndrome TRAPS due to a mutation in the gene encoding the receptor for tumour necrosis factor alpha (TNFRSF1A) is the first documented case of the disease reported in Bulgaria.
authors.affiliation: Department of Propedeutics of Internal Diseases, Faculty of Medicine, Medical University of Plovdiv, Plovdiv, Bulgaria|Clinic of Rheumatology, St George University Hospital, Medical University of Plovdiv, Plovdiv, Bulgaria
authors.forename: Panayot T
authors.initials: PT
authors.lastname: Solakov
mesh_terms: D002031:Bulgaria; D003937:Diagnosis, Differential; D005260:Female; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D013577:Syndrome
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human