Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome
Gardner’s syndrome is an autosomal dominant disease caused by a mutation in the APC gene with 20–30% of cases presenting de novo. This entity is a variant of familial adenomatous polyposis, with a prevalence of 3/100,000 habitants. It may present as early as 2 months of age with a variety of both co...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Gastrointestinal Medicine |
| Online Access: | http://dx.doi.org/10.1155/2020/7394928 |
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| author | Bruno Besteiro Filipa Gomes Cláudia Costa Raquel Portugal Isabel Garrido Jorge Almeida |
| author_facet | Bruno Besteiro Filipa Gomes Cláudia Costa Raquel Portugal Isabel Garrido Jorge Almeida |
| author_sort | Bruno Besteiro |
| collection | DOAJ |
| description | Gardner’s syndrome is an autosomal dominant disease caused by a mutation in the APC gene with 20–30% of cases presenting de novo. This entity is a variant of familial adenomatous polyposis, with a prevalence of 3/100,000 habitants. It may present as early as 2 months of age with a variety of both colonic and extracolonic symptoms. We report a case of a 21-year-old man, without any known family history, presenting with microcytic hypochromic anemia and constitutional symptoms for two months. Ultimately, after the etiological study, Gardner syndrome diagnosis was established as an index primary familiar case. Gardner syndrome is a clinical challenge which requires a prompt suspicion in order to reach its diagnosis. Given the malignant evolution of adenomas in 100% of untreated patients, early identification of extraintestinal manifestations (identifiable prior to colonic symptoms) is of the essence. A consequent endoscopic study to confirm gastrointestinal involvement is essential for a more favorable prognosis. |
| format | Article |
| id | doaj-art-213480487c4e41008fc3216d0db7f721 |
| institution | OA Journals |
| issn | 2090-6528 2090-6536 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Gastrointestinal Medicine |
| spelling | doaj-art-213480487c4e41008fc3216d0db7f7212025-08-20T02:03:55ZengWileyCase Reports in Gastrointestinal Medicine2090-65282090-65362020-01-01202010.1155/2020/73949287394928Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner SyndromeBruno Besteiro0Filipa Gomes1Cláudia Costa2Raquel Portugal3Isabel Garrido4Jorge Almeida5Internal Medicine Department, Centro Hospitalar e Universitário de São João, Oporto, PortugalInternal Medicine Department, Centro Hospitalar e Universitário de São João, Oporto, PortugalOncology Department, Instituto Português de Oncologia de Coimbra, Coimbra, PortugalPathology Department, Centro Hospitalar e Universitário de São João, Oporto, PortugalGastrenterology Department, Centro Hospitalar e Universitário de São João, Oporto, PortugalInternal Medicine Department, Centro Hospitalar e Universitário de São João, Oporto, PortugalGardner’s syndrome is an autosomal dominant disease caused by a mutation in the APC gene with 20–30% of cases presenting de novo. This entity is a variant of familial adenomatous polyposis, with a prevalence of 3/100,000 habitants. It may present as early as 2 months of age with a variety of both colonic and extracolonic symptoms. We report a case of a 21-year-old man, without any known family history, presenting with microcytic hypochromic anemia and constitutional symptoms for two months. Ultimately, after the etiological study, Gardner syndrome diagnosis was established as an index primary familiar case. Gardner syndrome is a clinical challenge which requires a prompt suspicion in order to reach its diagnosis. Given the malignant evolution of adenomas in 100% of untreated patients, early identification of extraintestinal manifestations (identifiable prior to colonic symptoms) is of the essence. A consequent endoscopic study to confirm gastrointestinal involvement is essential for a more favorable prognosis.http://dx.doi.org/10.1155/2020/7394928 |
| spellingShingle | Bruno Besteiro Filipa Gomes Cláudia Costa Raquel Portugal Isabel Garrido Jorge Almeida Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome Case Reports in Gastrointestinal Medicine |
| title | Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome |
| title_full | Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome |
| title_fullStr | Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome |
| title_full_unstemmed | Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome |
| title_short | Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome |
| title_sort | importance of extraintestinal manifestations in early diagnosis of gardner syndrome |
| url | http://dx.doi.org/10.1155/2020/7394928 |
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