title: Efficacy of anakinra in an adult patient with recurrent pericarditis and cardiac tamponade as initial manifestations of tumor necrosis factor receptor-associated periodic syndrome due to the R92Q TNFRSF1A variant.
abstract: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory disease caused by TNFRSF1A mutations. Patients with TRAPS suffer from recurrent, long episodes with fever, arthralgia/arthritis, migratory myalgias, abdominal pain, serositis, conjunctivitis and migratory erythematous skin rash. More than 70 different TNFRSF1A mutations have been reported to date, and as consequence of its genetic heterogeneity, TRAPS shows a variable phenotypic expression. Among TNFRSF1A variants, the low-penetrance p.Arg92Gln variant represents the most commonly detected, and is typically associated with mild and short episodes, with a higher tendency to spontaneous resolution, and less familial association than the structural TNFRSF1A mutations. Pericardial involvement is rare but a well-known clinical feature of TRAPS, with a significant increased rate in those adult patients in whom the onset of the disease occurred during adulthood. Moreover, idiopathic recurrent acute pericarditis has also been occasionally described as a clinical presentation of TRAPS. However, cardiac tamponade is an unusual initial manifestation of the disease. Herein, we present a brief review based on the description of the exceptional case of a 35-year-old female patient who presented with recurrent pericardial effusions and cardiac tamponade. TNFRSF1A analyses showed a heterozygous genotype for the low-penetrance p.Arg92Gln variant. Due to disease severity, the patient was treated with the anti-interleukin-1 drug anakinra, showing a prompt resolution of her clinical manifestations.
authors.affiliation: Department of Internal Medicine, Bellvitge University Hospital-IDIBELL, L'Hospitalet de Llobregat, Spain.
authors.forename: Daniel
authors.initials: D
authors.lastname: Camprubí
authors.affiliation: Department of Internal Medicine, Bellvitge University Hospital-IDIBELL, L'Hospitalet de Llobregat, Spain.
authors.forename: Francesca
authors.initials: F
authors.lastname: Mitjavila
authors.affiliation: Department of Immunology, Hospital Clínic-IDIBAPS, Barcelona, Spain.
authors.forename: Juan I
authors.initials: JI
authors.lastname: Arostegui
authors.affiliation: Department of Internal Medicine, Bellvitge University Hospital-IDIBELL, L'Hospitalet de Llobregat, Spain.|Faculty of Medicine and Health Sciences, International University of Catalonia, Barcelona, Spain.
authors.forename: Xavier
authors.initials: X
authors.lastname: Corbella
mesh_terms: D000328:Adult; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use*; D002305:Cardiac Tamponade / Q000175:diagnosis / Q000209:etiology*; D010505:Familial Mediterranean Fever / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D019683:Penetrance; D010493:Pericarditis / Q000175:diagnosis / Q000209:etiology*; D010641:Phenotype; D012008:Recurrence; D016896:Treatment Outcome
chemical_list: D000893:Anti-Inflammatory Agents; C091514:BABAM2 protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; D009419:Nerve Tissue Proteins
keywords: autoinflammatory syndrome; biologic therapy; immunogenetics; miscellaneous topics; pericarditis