Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1

Detalhes bibliográficos
Autor(a) principal: Moreira,Mariana Lima Mascarenhas
Data de Publicação: 2021
Outros Autores: Araújo,Iana Mizumukai de, Molfetta,Greice Andreotti de, Silva Jr.,Wilson Araújo, Paula,Francisco José Albuquerque de
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Arquivos de Endocrinologia e Metabolismo (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972021000400500
Resumo: SUMMARY The occurrence of fractures in young individuals is frequently overlooked by physicians, especially when associated with exercise or trauma. Nevertheless, multiple fractures should always be investigated since underlying conditions can predispose to such events. We describe here the case of a young, healthy woman who sustained multiple fractures in the lower limbs, which were initially considered to be “stress fractures”. Further investigation, including a panel of genes associated with osteogenesis imperfecta, revealed that the patient is a heterozygous carrier of a SERPINF1 variant. According to criteria recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, this variant is classified as likely benign (PM2, PP3, PP4, BP1, and BP4). The patient's mother and brother were also asymptomatic carriers of the variant and had sustained previous minor fractures. The patient had normal biochemical profile and bone density. This condition has been rarely described and is not associated with low bone mineral density or altered bone turnover markers. This case highlights the importance of investigating multiple fractures in young patients who are otherwise healthy since these may be a warning sign of rare genetic conditions associated with fragility fractures.
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spelling Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1SUMMARY The occurrence of fractures in young individuals is frequently overlooked by physicians, especially when associated with exercise or trauma. Nevertheless, multiple fractures should always be investigated since underlying conditions can predispose to such events. We describe here the case of a young, healthy woman who sustained multiple fractures in the lower limbs, which were initially considered to be “stress fractures”. Further investigation, including a panel of genes associated with osteogenesis imperfecta, revealed that the patient is a heterozygous carrier of a SERPINF1 variant. According to criteria recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, this variant is classified as likely benign (PM2, PP3, PP4, BP1, and BP4). The patient's mother and brother were also asymptomatic carriers of the variant and had sustained previous minor fractures. The patient had normal biochemical profile and bone density. This condition has been rarely described and is not associated with low bone mineral density or altered bone turnover markers. This case highlights the importance of investigating multiple fractures in young patients who are otherwise healthy since these may be a warning sign of rare genetic conditions associated with fragility fractures.Sociedade Brasileira de Endocrinologia e Metabologia2021-08-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972021000400500Archives of Endocrinology and Metabolism v.65 n.4 2021reponame:Arquivos de Endocrinologia e Metabolismo (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.20945/2359-3997000000375info:eu-repo/semantics/openAccessMoreira,Mariana Lima MascarenhasAraújo,Iana Mizumukai deMolfetta,Greice Andreotti deSilva Jr.,Wilson AraújoPaula,Francisco José Albuquerque deeng2021-09-16T00:00:00Zoai:scielo:S2359-39972021000400500Revistahttps://www.aem-sbem.com/https://old.scielo.br/oai/scielo-oai.php||aem.editorial.office@endocrino.org.br2359-42922359-3997opendoar:2021-09-16T00:00Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false
dc.title.none.fl_str_mv Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1
title Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1
spellingShingle Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1
Moreira,Mariana Lima Mascarenhas
title_short Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1
title_full Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1
title_fullStr Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1
title_full_unstemmed Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1
title_sort Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1
author Moreira,Mariana Lima Mascarenhas
author_facet Moreira,Mariana Lima Mascarenhas
Araújo,Iana Mizumukai de
Molfetta,Greice Andreotti de
Silva Jr.,Wilson Araújo
Paula,Francisco José Albuquerque de
author_role author
author2 Araújo,Iana Mizumukai de
Molfetta,Greice Andreotti de
Silva Jr.,Wilson Araújo
Paula,Francisco José Albuquerque de
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Moreira,Mariana Lima Mascarenhas
Araújo,Iana Mizumukai de
Molfetta,Greice Andreotti de
Silva Jr.,Wilson Araújo
Paula,Francisco José Albuquerque de
description SUMMARY The occurrence of fractures in young individuals is frequently overlooked by physicians, especially when associated with exercise or trauma. Nevertheless, multiple fractures should always be investigated since underlying conditions can predispose to such events. We describe here the case of a young, healthy woman who sustained multiple fractures in the lower limbs, which were initially considered to be “stress fractures”. Further investigation, including a panel of genes associated with osteogenesis imperfecta, revealed that the patient is a heterozygous carrier of a SERPINF1 variant. According to criteria recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, this variant is classified as likely benign (PM2, PP3, PP4, BP1, and BP4). The patient's mother and brother were also asymptomatic carriers of the variant and had sustained previous minor fractures. The patient had normal biochemical profile and bone density. This condition has been rarely described and is not associated with low bone mineral density or altered bone turnover markers. This case highlights the importance of investigating multiple fractures in young patients who are otherwise healthy since these may be a warning sign of rare genetic conditions associated with fragility fractures.
publishDate 2021
dc.date.none.fl_str_mv 2021-08-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.20945/2359-3997000000375
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dc.publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
dc.source.none.fl_str_mv Archives of Endocrinology and Metabolism v.65 n.4 2021
reponame:Arquivos de Endocrinologia e Metabolismo (Online)
instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
instname_str Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
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reponame_str Arquivos de Endocrinologia e Metabolismo (Online)
collection Arquivos de Endocrinologia e Metabolismo (Online)
repository.name.fl_str_mv Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
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