Sickle cell trait: a cause of abdominal pain and pulmonary embolism
Introduction: Sickle cell trait (SCT) is a rare and underdiagnosed disorder in the Argentinian population. In this condition, individuals carry the mutation of the HbS gene in one of the two beta-globin genes. In general, SCT does not present with the typical manifestations of sickle cell anemia. Ho...
| Autores principales: | , , , , |
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| Formato: | Artículo revista |
| Lenguaje: | Inglés |
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Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2020
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| Materias: | |
| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/25077 |
| Aporte de: |
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I10-R327-article-25077 |
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ojs |
| institution |
Universidad Nacional de Córdoba |
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I-10 |
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R-327 |
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Revista de la Facultad de Ciencias Médicas de Córdoba |
| language |
Inglés |
| format |
Artículo revista |
| topic |
rasgo drepanocítico infarto del bazo embolia pulmonar inhibidor de coagulación del lupus. sickle cell trait splenic infarction pulmonary embolism lupus coagulation inhibitor. traço falciforme infarto do baço embolia pulmonar inibidor de coagulação do lúpus. |
| spellingShingle |
rasgo drepanocítico infarto del bazo embolia pulmonar inhibidor de coagulación del lupus. sickle cell trait splenic infarction pulmonary embolism lupus coagulation inhibitor. traço falciforme infarto do baço embolia pulmonar inibidor de coagulação do lúpus. Saad, Emanuel José Tarditi Barra, Ayelén Monzoni, Gabriela Villegas, Carolina Tabares, Aldo Hugo Sickle cell trait: a cause of abdominal pain and pulmonary embolism |
| topic_facet |
rasgo drepanocítico infarto del bazo embolia pulmonar inhibidor de coagulación del lupus. sickle cell trait splenic infarction pulmonary embolism lupus coagulation inhibitor. traço falciforme infarto do baço embolia pulmonar inibidor de coagulação do lúpus. |
| author |
Saad, Emanuel José Tarditi Barra, Ayelén Monzoni, Gabriela Villegas, Carolina Tabares, Aldo Hugo |
| author_facet |
Saad, Emanuel José Tarditi Barra, Ayelén Monzoni, Gabriela Villegas, Carolina Tabares, Aldo Hugo |
| author_sort |
Saad, Emanuel José |
| title |
Sickle cell trait: a cause of abdominal pain and pulmonary embolism |
| title_short |
Sickle cell trait: a cause of abdominal pain and pulmonary embolism |
| title_full |
Sickle cell trait: a cause of abdominal pain and pulmonary embolism |
| title_fullStr |
Sickle cell trait: a cause of abdominal pain and pulmonary embolism |
| title_full_unstemmed |
Sickle cell trait: a cause of abdominal pain and pulmonary embolism |
| title_sort |
sickle cell trait: a cause of abdominal pain and pulmonary embolism |
| description |
Introduction: Sickle cell trait (SCT) is a rare and underdiagnosed disorder in the Argentinian population. In this condition, individuals carry the mutation of the HbS gene in one of the two beta-globin genes. In general, SCT does not present with the typical manifestations of sickle cell anemia. However, under certain circumstances, some clinical characteristics of the disease may develop. Methods: We discussed the case of a 39-Year old man who presented with persistent abdominal pain of unknown origin after traveling to a high-altitude place. He underwent laparotomy without a definite diagnosis. After that, the patient developed signs of splenic infarction and pulmonary thromboembolism that were confirmed by computed tomography. Results: A sickling test was positive, and a hemoglobin electrophoresis revealed an abnormal fraction at the HbS level. In this context a diagnosis of SCT was made. Additional, tests revealed a strongly positive lupus anticoagulant. Conclusion: SCT presentation as abdominal pain and thromboembolic disease in adult patients after exposure to high altitudes is a rarely suspected diagnosis. |
| publisher |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
| publishDate |
2020 |
| url |
https://revistas.unc.edu.ar/index.php/med/article/view/25077 |
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I10-R327-article-250772024-08-27T18:25:20Z Sickle cell trait: a cause of abdominal pain and pulmonary embolism Rasgo drepanocítico: una causa de dolor abdominal y tromboembolismo pulmonar O traço drepanocítico: uma causa de dor abdominal e tromboembolismo pulmonar Saad, Emanuel José Tarditi Barra, Ayelén Monzoni, Gabriela Villegas, Carolina Tabares, Aldo Hugo rasgo drepanocítico infarto del bazo embolia pulmonar inhibidor de coagulación del lupus. sickle cell trait splenic infarction pulmonary embolism lupus coagulation inhibitor. traço falciforme infarto do baço embolia pulmonar inibidor de coagulação do lúpus. Introduction: Sickle cell trait (SCT) is a rare and underdiagnosed disorder in the Argentinian population. In this condition, individuals carry the mutation of the HbS gene in one of the two beta-globin genes. In general, SCT does not present with the typical manifestations of sickle cell anemia. However, under certain circumstances, some clinical characteristics of the disease may develop. Methods: We discussed the case of a 39-Year old man who presented with persistent abdominal pain of unknown origin after traveling to a high-altitude place. He underwent laparotomy without a definite diagnosis. After that, the patient developed signs of splenic infarction and pulmonary thromboembolism that were confirmed by computed tomography. Results: A sickling test was positive, and a hemoglobin electrophoresis revealed an abnormal fraction at the HbS level. In this context a diagnosis of SCT was made. Additional, tests revealed a strongly positive lupus anticoagulant. Conclusion: SCT presentation as abdominal pain and thromboembolic disease in adult patients after exposure to high altitudes is a rarely suspected diagnosis. Introducción: El rasgo drepanocítico es una rara enfermedad en Argentina. Se trata de un trastorno heterocigoto en el cual los individuos portan la mutación del gen de Hemoglobina S (HbS) en uno de los dos alelos de los genes de beta-globina, siendo el otro normal. Estos pacientes no presentan las manifestaciones clínicas típicas de la anemia de células falciformes. Sin embargo, bajo ciertas circunstancias, pueden desarrollarse algunas de las manifestaciones propias de la enfermedad. Métodos: Hombre de 39 años que se presentó con un cuadro de dolor abdominal persistente luego de un viaje a una ciudad ubicada a elevada altitud sobre el nivel del mar. Fue sometido a procedimiento de laparotomía sin arribar a un diagnóstico certero. Posteriormente a ello, el paciente desarrolló un cuadro de infarto esplénico y tromboembolismo pulmonar. Resultados: El test de sickling fue positivo y se identificó HbS en el estudio de electroforesis. En este contexto se arribó al diagnóstico de rasgo drepanocítico. Asimismo, se observó un estudio de anticoagulante lúpico fuertemente positivo. Conclusión: La presentación de rasgo drepanocítico como dolor abdominal y tromboembolismo pulmonar en pacientes adultos luego de exposición a grandes altitudes es un diagnóstico raramente sospechado. Introdução: O traço drepanocítico é uma doença pouco frequente na Argentina. Trata-se de um transtorno heterozigoto no qual os indivíduos carregam a mutação do gene da Hemoglobina S (HbS) em um dos dois alelos dos genes da beta-globina, sendo o outro normal. Estes pacientes não apresentam as manifestações clínicas típicas da anemia falciforme. No entanto, em determinadas circunstâncias, eles podem desenvolver algumas das manifestações da doença. Métodos: Apresentamos o caso de um homem de 39 anos de idade, que mostrava um quadro de dor abdominal persistente depois de uma viagem a uma cidade situada a grande altitude acima do nível do mar. Ele foi submetido a procedimento de laparotomia sem chegar a um diagnóstico preciso. Posteriormente, o paciente desenvolveu um quadro de infarto esplênico e tromboembolismo pulmonar. Resultados: O teste de sickling foi positivo e o gene HbS foi identificado no exame de eletroforese. Neste contexto estabeleceu-se o diagnóstico de traço drepanocítico. Analisou-se também um exame de anticoagulante lúpico fortemente positivo efetuado no mesmo paciente. Conclusão: A manifestação do traço drepanocítico em forma de dor abdominal e tromboembolismo pulmonar em pacientes adultos depois de exposição a grandes altitudes é um diagnóstico raramente suspeito. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2020-12-01 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf text/html https://revistas.unc.edu.ar/index.php/med/article/view/25077 10.31053/1853.0605.v77.n4.25077 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 77 No. 4 (2020); 360-362 Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 77 Núm. 4 (2020); 360-362 Revista da Faculdade de Ciências Médicas de Córdoba; v. 77 n. 4 (2020); 360-362 1853-0605 0014-6722 10.31053/1853.0605.v77.n4 eng https://revistas.unc.edu.ar/index.php/med/article/view/25077/32430 https://revistas.unc.edu.ar/index.php/med/article/view/25077/32499 Derechos de autor 2020 Universidad Nacional de Córdoba https://creativecommons.org/licenses/by-nc/4.0 |