Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome in Two Brothers: Case Report

COOKIES POLICY

This site uses cookies for the proper functioning of the site and to optimize your browsing experience. To learn more about the use of cookies or how to manage or disable them on this device please consult the Cookies Policy.

Inforvs Popup 729X729px

Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome in Two Brothers: Case Report

Case Report

Adriana Formiga

Pediatrics Service, Centro Hospitalar Universitário Cova da Beira, Covilhã, Portugal
https://orcid.org/0000-0002-6515-9704

Marta Conde

Pediatric Rheumatology Unit, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisboa, Portugal
https://orcid.org/0000-0002-0193-2067

Miguel Vieira Martins

Pediatrics Service, Centro Hospitalar Universitário Cova da Beira, Covilhã, Portugal
https://orcid.org/0000-0002-3021-2843

Carlos Rodrigues

Pediatrics Service, Centro Hospitalar Universitário Cova da Beira, Covilhã, Portugal
Faculdade de Ciências da Saúde, Universidade da Beira Interior, Covilhã, Portugal
https://orcid.org/0000-0002-7980-5914

Margarida Oliveira

Rheumatology Service, Centro Hospitalar Universitário Cova da Beira, Covilhã, Portugal
Pediatric Rheumatology Service, Centro Hospitalar Universitário Cova da Beira, Covilhã, Portugal
Faculdade de Ciências da Saúde, Universidade da Beira Interior, Covilhã, Portugal
https://orcid.org/0000-0003-0144-4503

DOI: https://doi.org/10.25754/pjp.2022.25061

Abstract

Hereditary periodic fever syndromes are a rare group of diseases that should be considered in the differential diagnosis of recurrent fevers of unknown origin. We report a case of two brothers with recurrent, self-limited fever episodes since three years of age associated with prostration, conjunctival hyperemia, abdominal pain, polyarthralgia, and myalgia. Acute phase reactants (C-reactive protein and erythrocyte sedimentation rate) were markedly elevated during crisis and normal during asymptomatic periods. Genetic study identified a mutation in the TNFRSF1A gene (c.242G>T, p.Cys81Phe) and led to the diagnosis of tumor necrosis factor receptor-1 associated periodic syndrome. Treatment with an interleukin-1 receptor antagonist (anakinra) was initiated with symptomatic control. The children father, who suffered from renal failure in the context of AA amyloidosis was also tested and demonstrated to have the same mutation. Tumor necrosis factor receptor-1 associated periodic syndrome is one of the most common hereditary periodic fever syndromes. It has an autosomal dominant pattern with incomplete penetrance, and presents with high interindividual variability of symptoms. AA amyloidosis is the most severe complication of untreated tumor necrosis factor receptor-1 associated periodic syndrome. Based on evidence, treatment with an interleukin-1 receptor antagonist is effective in remitting symptoms and preventing complications