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Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever

Familial Mediterranean fever (FMF) typically presents with recurrent attacks of fever and serosal inflammation with peritoneum, pleura, and synovium. We usually do not expect pericardial involvement at the early stages. FMF is an autoinflammatory disease, usually inherited with an autosomal recessiv...

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Autores principales: Malek, Abdolreza, Zeraati, Tina, Sadr-Nabavi, Ariane, Vakili, Niloofar, Abbaszadegan, Mohammad Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8844152/
https://www.ncbi.nlm.nih.gov/pubmed/35178266
http://dx.doi.org/10.1155/2022/8334375
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author Malek, Abdolreza
Zeraati, Tina
Sadr-Nabavi, Ariane
Vakili, Niloofar
Abbaszadegan, Mohammad Reza
author_facet Malek, Abdolreza
Zeraati, Tina
Sadr-Nabavi, Ariane
Vakili, Niloofar
Abbaszadegan, Mohammad Reza
author_sort Malek, Abdolreza
collection PubMed
description Familial Mediterranean fever (FMF) typically presents with recurrent attacks of fever and serosal inflammation with peritoneum, pleura, and synovium. We usually do not expect pericardial involvement at the early stages. FMF is an autoinflammatory disease, usually inherited with an autosomal recessive pattern. The patients typically have biallelic mutations in the MEFV gene, located on chromosome 16. Colchicine is the first-line treatment of FMF, which not only plays a crucial prophylactic role regarding the attack episodes, but also prevents amyloidosis. Colchicine resistance and intolerance in FMF patients have been rarely reported. Alternative anti-inflammatory agents are understood to be helpful in such cases. We describe a 13-year-old boy referred to our pediatric department complaining of chest pain, dyspnea, and tachycardia. Due to the massive pericardial and pleural effusion, a pericardiocentesis was performed, and a chest tube was inserted. Cardiac tamponade was considered as the initial diagnosis. After a month, he faced another episode of pleuritic chest pain, fever, tachycardia, and pleural and pericardial effusion. Evaluation for probable differential diagnoses including infection, malignancy, and collagen vascular disease showed no remarkable results. Finally, the mutation found by whole exome sequencing was confirmed by direct Sanger sequencing revealing a heterozygote c.44G > C (p.Glu148Gln) mutation in exon 2, confirming the clinical diagnosis of familial Mediterranean fever. Since he seemed to be nonresponsive to the maximum standard dose of colchicine, 100 mg of daily dapsone was added to his treatment regimen, which controlled the attack episodes well. FMF, while rarely initiated with cardiac manifestation, should be considered in patients with any early signs and symptoms of cardiovascular involvement.
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spelling pubmed-88441522022-02-16 Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever Malek, Abdolreza Zeraati, Tina Sadr-Nabavi, Ariane Vakili, Niloofar Abbaszadegan, Mohammad Reza Case Rep Rheumatol Case Report Familial Mediterranean fever (FMF) typically presents with recurrent attacks of fever and serosal inflammation with peritoneum, pleura, and synovium. We usually do not expect pericardial involvement at the early stages. FMF is an autoinflammatory disease, usually inherited with an autosomal recessive pattern. The patients typically have biallelic mutations in the MEFV gene, located on chromosome 16. Colchicine is the first-line treatment of FMF, which not only plays a crucial prophylactic role regarding the attack episodes, but also prevents amyloidosis. Colchicine resistance and intolerance in FMF patients have been rarely reported. Alternative anti-inflammatory agents are understood to be helpful in such cases. We describe a 13-year-old boy referred to our pediatric department complaining of chest pain, dyspnea, and tachycardia. Due to the massive pericardial and pleural effusion, a pericardiocentesis was performed, and a chest tube was inserted. Cardiac tamponade was considered as the initial diagnosis. After a month, he faced another episode of pleuritic chest pain, fever, tachycardia, and pleural and pericardial effusion. Evaluation for probable differential diagnoses including infection, malignancy, and collagen vascular disease showed no remarkable results. Finally, the mutation found by whole exome sequencing was confirmed by direct Sanger sequencing revealing a heterozygote c.44G > C (p.Glu148Gln) mutation in exon 2, confirming the clinical diagnosis of familial Mediterranean fever. Since he seemed to be nonresponsive to the maximum standard dose of colchicine, 100 mg of daily dapsone was added to his treatment regimen, which controlled the attack episodes well. FMF, while rarely initiated with cardiac manifestation, should be considered in patients with any early signs and symptoms of cardiovascular involvement. Hindawi 2022-02-07 /pmc/articles/PMC8844152/ /pubmed/35178266 http://dx.doi.org/10.1155/2022/8334375 Text en Copyright © 2022 Abdolreza Malek et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Malek, Abdolreza
Zeraati, Tina
Sadr-Nabavi, Ariane
Vakili, Niloofar
Abbaszadegan, Mohammad Reza
Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever
title Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever
title_full Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever
title_fullStr Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever
title_full_unstemmed Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever
title_short Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever
title_sort cardiac tamponade: a rare manifestation of familial mediterranean fever
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8844152/
https://www.ncbi.nlm.nih.gov/pubmed/35178266
http://dx.doi.org/10.1155/2022/8334375
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