Challenging diagnosis: coexistence of two rare diseases - familial mediterranean fever and loyez-dietz syndrome type 3

Introduction. Autoinflammatory diseases are a group of genetically inherited disorders and familial Mediterranean fever is the most common of this group. It is rare in other than Middle East populations. Clinical manifestations of FMF are attacks of fever usually shorter than 24 hours, associated wi...

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Autores principales:	Ninel REVENCO, Lucia ANDRIES, Victoria SACARA, Alexandr DORIF, Doina BARBA, Rodica EREMCIUC, Olga GAIDARJI
Formato:	article
Lenguaje:	EN FR RO RU
Publicado:	Asociatia de Biosiguranta si Biosecuritate 2020
Materias:	autoinflammatory diseases familial mediterranean fever children Medicine R Science Q
Acceso en línea:	https://doaj.org/article/d9a12e5fe61c45ab817e49757cce654d
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spelling	oai:doaj.org-article:d9a12e5fe61c45ab817e49757cce654d2021-12-02T17:05:42ZChallenging diagnosis: coexistence of two rare diseases - familial mediterranean fever and loyez-dietz syndrome type 310.38045/ohrm.2020.1.182887-34582587-3466https://doaj.org/article/d9a12e5fe61c45ab817e49757cce654d2020-10-01T00:00:00Zhttps://journal.ohrm.bba.md/index.php/journal-ohrm-bba-md/article/view/74/39https://doaj.org/toc/2887-3458https://doaj.org/toc/2587-3466Introduction. Autoinflammatory diseases are a group of genetically inherited disorders and familial Mediterranean fever is the most common of this group. It is rare in other than Middle East populations. Clinical manifestations of FMF are attacks of fever usually shorter than 24 hours, associated with arthritis, pleuritic chest pain, and abdominal pain. Case presentation. A 15-year-old female patient was included in the study. She complained of recurrent episodes of fever associated with arthritis and abdominal pain. Moreover, the patient presented dysmorphic features like hyperthelorism, prognathia, scoliosis, pectus carinatum, and hypermobility syndrome. The laboratory exam revealed mutations in both MEVF and SMAD 3. Conclusions. An autoinflammatory disorder should be suspected in any patient who has a history of recurrent fever. The attack patterns of FMF varies not just in different patients, but also in the same patient. Mainstay of treatment is colchicine that significantly improves the prognosis of patients with FMF.Ninel REVENCO Lucia ANDRIESVictoria SACARAAlexandr DORIFDoina BARBARodica EREMCIUCOlga GAIDARJIAsociatia de Biosiguranta si Biosecuritatearticleautoinflammatory diseasesfamilial mediterranean feverchildrenMedicineRScienceQENFRRORUOne Health & Risk Management, Vol 1, Iss 2, Pp 68-72 (2020)
institution	DOAJ
collection	DOAJ
language	EN FR RO RU
topic	autoinflammatory diseases familial mediterranean fever children Medicine R Science Q
spellingShingle	autoinflammatory diseases familial mediterranean fever children Medicine R Science Q Ninel REVENCO Lucia ANDRIES Victoria SACARA Alexandr DORIF Doina BARBA Rodica EREMCIUC Olga GAIDARJI Challenging diagnosis: coexistence of two rare diseases - familial mediterranean fever and loyez-dietz syndrome type 3
description	Introduction. Autoinflammatory diseases are a group of genetically inherited disorders and familial Mediterranean fever is the most common of this group. It is rare in other than Middle East populations. Clinical manifestations of FMF are attacks of fever usually shorter than 24 hours, associated with arthritis, pleuritic chest pain, and abdominal pain. Case presentation. A 15-year-old female patient was included in the study. She complained of recurrent episodes of fever associated with arthritis and abdominal pain. Moreover, the patient presented dysmorphic features like hyperthelorism, prognathia, scoliosis, pectus carinatum, and hypermobility syndrome. The laboratory exam revealed mutations in both MEVF and SMAD 3. Conclusions. An autoinflammatory disorder should be suspected in any patient who has a history of recurrent fever. The attack patterns of FMF varies not just in different patients, but also in the same patient. Mainstay of treatment is colchicine that significantly improves the prognosis of patients with FMF.
format	article
author	Ninel REVENCO Lucia ANDRIES Victoria SACARA Alexandr DORIF Doina BARBA Rodica EREMCIUC Olga GAIDARJI
author_facet	Ninel REVENCO Lucia ANDRIES Victoria SACARA Alexandr DORIF Doina BARBA Rodica EREMCIUC Olga GAIDARJI
author_sort	Ninel REVENCO
title	Challenging diagnosis: coexistence of two rare diseases - familial mediterranean fever and loyez-dietz syndrome type 3
title_short	Challenging diagnosis: coexistence of two rare diseases - familial mediterranean fever and loyez-dietz syndrome type 3
title_full	Challenging diagnosis: coexistence of two rare diseases - familial mediterranean fever and loyez-dietz syndrome type 3
title_fullStr	Challenging diagnosis: coexistence of two rare diseases - familial mediterranean fever and loyez-dietz syndrome type 3
title_full_unstemmed	Challenging diagnosis: coexistence of two rare diseases - familial mediterranean fever and loyez-dietz syndrome type 3
title_sort	challenging diagnosis: coexistence of two rare diseases - familial mediterranean fever and loyez-dietz syndrome type 3
publisher	Asociatia de Biosiguranta si Biosecuritate
publishDate	2020
url	https://doaj.org/article/d9a12e5fe61c45ab817e49757cce654d
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Challenging diagnosis: coexistence of two rare diseases - familial mediterranean fever and loyez-dietz syndrome type 3

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