Diagnosis and treatment of familial adenomatous polyposis
Keywords:
familial adenomatous polyposis, diagnosis, colorectal cancer, hereditary neoplastic syndromes.Abstract
Familial adenomatous polyposis is a generally hereditary disease that leads to colon cancer if not treated early. For this reason, the purpose of this article is to describe the diagnosis, treatment and behavior to be followed with these patients through the presentation of a case. The methods used were a case study of a patient suffering from this disease, and a review of the scientific literature, where this subject is addressed, in order to take the points of coincidence and relate them. Results: The diagnosis in this patient was late, the procedure performed was a total colectomy with terminal ileostomy, the biopsy reported adenocarcinoma of the sigmoid. Conclusions: To apply the clinical epidemiological method for the early diagnosis of this disease due to its evolution towards colon cancer.
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References
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Valle, L., de Voer, R. M., Goldberg, Y., Sjursen, W., Försti, A., Ruiz-Ponte, C., Caldés, T., Garré, P., Olsen, M. F., Nordling, M., Castellvi-Bel, S. y Hemminki, K. (2019). Update on genetic predisposition to colorectal cancer and polyposis. Molecular Aspects of Medicine, 69, 10–26. Elsevier Ltd. Recuperado de https://doi.org/10.1016/j.mam.2019.03.001
Vasen, H. F. A., Möslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bülow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I., Friedl, W., Hes, F. J., Hodgson, S., Järvinen, H., Mecklin, J. P., Møller, P., … y Wijnen, J. (2008). Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut, 57(5), 704–713. Recuperado de https://doi.org/10.1136/gut.2007.136127
Yang, J., Gurudu, S. R., Koptiuch, C., Agrawal, D., Buxbaum, J. L., Abbas Fehmi, S. M., Fishman, D. S., Khashab, M. A., Jamil, L. H., Jue, T. L., Law, J. K., Lee, J. K., Naveed, M., Qumseya, B. J., Sawhney, M. S., Thosani, N., Wani, S. B., & Samadder, N. J. (2020). American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes. Gastrointestinal Endoscopy, 91(5), 963-982. Recuperado de https://doi.org/10.1016/j.gie.2020.01.028
Zhao, R., Coker, O. O., Wu, J., Zhou, Y., Zhao, L., Nakatsu, G., Bian, X., Wei, H., Chan, A. W. H., Sung, J. J. Y., Chan, F. K. L., El-Omar, E., & Yu, J. (2020). Aspirin Reduces Colorectal Tumor Development in Mice and Gut Microbes Reduce its Bioavailability and Chemopreventive Effects. Gastroenterology, 159(3), 969-983. Recuperado de https://doi.org/10.1053/j.gastro.2020.05.004
Charifa, A., Jamil, R. T. y Zhang, X. (2021). Gardner Syndrome. In StatPearls. Recuperado de http://www.ncbi.nlm.nih.gov/pubmed/29493967
De Ponz, M., Benatti, P., Percesepe, A., Cacciatore, A., Sassatelli, R., Bertoni, G., Sabadini, G., Varesco, L., Gismondi, V., Mareni, C., Montera, M., Di Gregorio, C., Landi, P. y Roncucci, L. (1999). Clinical features and genotype-phenotype correlations in 41 Italian families with adenomatosis coli. Italian Journal of Gastroenterology and Hepatology, 31(9), 850-860.
Dumitrascu, T., Stroescu, C., Tomulescu, V. e Ionescu, M. (2019). Technical issues and early outcomes of restorative proctocolectomy for familial adenomatous polyposis and ulcerative colitis: The largest Romanian single-team experience. Chirurgia (Romania), 114(2), 179–190. Recuperado de https://doi.org/10.21614/chirurgia.114.2.179
Galiatsatos, P. y Foulkes, W. D. (2006). Familial adenomatous polyposis. American Journal of Gastroenterology, 101(2), 385–398. Recuperado de https://doi.org/10.1111/j.1572-0241.2006.00375.X
Gerritsen, R. T., Spoelstra, P. y Breeuwsma, N. G. (1993). Carcinoma of the papilla of Vater in a brother and sister with familial adenomatous polyposis. Netherlands Journal of Medicine, 43(1), 22-25.
James, S. D., Hawkins, A. T. y M’Koma, A. E. (2018). Adenocarcinoma at the Ileostomy Site after a Proctocolectomy for Ulcerative Colitis and/or Familial Adenomatous Polyposis: An Overview. Ostomy Wound Management, 64(6), 30-40. Recuperado de https://doi.org/10.25270/owm.2018.6.3040
Kemp, P. M., Mankaney, G., Vreeland, T. J., Chick, R. C., Hale, D. F., Cindass, J. L., Hickerson, A. T., Ensley, D. C., Sohn, V., Clifton, G. T., Peoples, G. E. y Burke, C. A. (2021). Chemoprevention in familial adenomatous polyposis: past, present and future. Familial Cancer, 20(1), 23–33). Springer Science and Business Media B.V. Recuperado de https://doi.org/10.1007/s10689-020-00189-y
McConnell, R. B. (1976). Familial Polyposis Coli. Family Studies, Histopathology, Differential Diagnosis, and Results of Treatment. In Journal of Medical Genetics, 13(5). BMJ Publishing Group. Recuperado de https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1013458/
Medina, M. A. y Babiker, H. M. (2019). A Review Of Hereditary Colorectal Cancers. StatPearls. Recuperado de http://www.ncbi.nlm.nih.gov/pubmed/30855783
Ng, K. S., Gonsalves, S. J. y Sagar, P. M. (2019). Ileal-anal pouches: A review of its history, indications, and complications. World Journal of Gastroenterology, 25(31), 4320–4342. Baishideng Publishing Group Co. Recuperado de https://doi.org/10.3748/wjg.v25.i31.4320
Patel, R. y Hyer, W. (2019). Practical management of polyposis syndromes. Frontline Gastroenterology, 10(4), 379–387. Recuperado de https://doi.org/10.1136/flgastro-2018-101053
Roos, V. H., Meijer, B. J., Kallenberg, F. G. J., Bastiaansen, B. A. J., Koens, L., Bemelman, F. J., Bossuyt, P. M. M., Heijmans, J., van den Brink, G. y Dekker, E. (2020). Sirolimus for the treatment of polyposis of the rectal remnant and ileal pouch in four patients with familial adenomatous polyposis: a pilot study. BMJ Open Gastroenterology, 7(1). Recuperado de https://doi.org/10.1136/bmjgast-2020-000497
Spier, I., Hüneburg, R. y Aretz, S. (2021). Gastrointestinal polyposis syndromes. In Internist, 62(2), 133–144. Springer Medizin. Recuperado de https://doi.org/10.1007/s00108-020-00903-z
Stewart, C. J. R., Foulis, A. K. y Imrie, C. W. (1994). Pancreatic islet cell tumour in a patient with familial adenomatous polyposis. Journal of Clinical Pathology, 47(9), 860–861. Recuperado de https://doi.org/10.1136/jcp.47.9.860
Talseth-Palmer, B. A. (2017). The genetic basis of colonic adenomatous polyposis syndromes. Hereditary Cancer in Clinical Practice, 15(1), 5. Recuperado de https://doi.org/10.1186/s13053-017-0065-x
Valle, L., de Voer, R. M., Goldberg, Y., Sjursen, W., Försti, A., Ruiz-Ponte, C., Caldés, T., Garré, P., Olsen, M. F., Nordling, M., Castellvi-Bel, S. y Hemminki, K. (2019). Update on genetic predisposition to colorectal cancer and polyposis. Molecular Aspects of Medicine, 69, 10–26. Elsevier Ltd. Recuperado de https://doi.org/10.1016/j.mam.2019.03.001
Vasen, H. F. A., Möslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bülow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I., Friedl, W., Hes, F. J., Hodgson, S., Järvinen, H., Mecklin, J. P., Møller, P., … y Wijnen, J. (2008). Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut, 57(5), 704–713. Recuperado de https://doi.org/10.1136/gut.2007.136127
Yang, J., Gurudu, S. R., Koptiuch, C., Agrawal, D., Buxbaum, J. L., Abbas Fehmi, S. M., Fishman, D. S., Khashab, M. A., Jamil, L. H., Jue, T. L., Law, J. K., Lee, J. K., Naveed, M., Qumseya, B. J., Sawhney, M. S., Thosani, N., Wani, S. B., & Samadder, N. J. (2020). American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes. Gastrointestinal Endoscopy, 91(5), 963-982. Recuperado de https://doi.org/10.1016/j.gie.2020.01.028
Zhao, R., Coker, O. O., Wu, J., Zhou, Y., Zhao, L., Nakatsu, G., Bian, X., Wei, H., Chan, A. W. H., Sung, J. J. Y., Chan, F. K. L., El-Omar, E., & Yu, J. (2020). Aspirin Reduces Colorectal Tumor Development in Mice and Gut Microbes Reduce its Bioavailability and Chemopreventive Effects. Gastroenterology, 159(3), 969-983. Recuperado de https://doi.org/10.1053/j.gastro.2020.05.004
Published
2022-04-25
How to Cite
Cobiellas Rodríguez, R., Mário Janota, J. L. de A., & López Morales, N. (2022). Diagnosis and treatment of familial adenomatous polyposis. Opuntia Brava, 14(2), 266–273. Retrieved from https://opuntiabrava.ult.edu.cu/index.php/opuntiabrava/article/view/1364
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