1. Wpływ odmowy leczenia przez pacjenta z rodzinną polipowatością gruczolakowatą na ryzyko rozwoju raka jelita grubego -- opis przypadku 30-letniej kobiety.
- Author
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Gancarczyk, Maciej, Jaworski, Aleksander, Kufel, Jakub, Bichalska-Lach, Magda, Waniczek, Dariusz, and Arendt, Jerzy
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RESTORATIVE proctocolectomy , *ADENOMATOUS polyposis coli , *INTESTINAL cancer , *TUMOR suppressor genes , *LARGE intestine , *SUPPRESSOR mutation , *VON Hippel-Lindau disease - Abstract
Familial adenomatous polyposis (FAP) is a rare autosomal dominant inherited disease caused by APC tumor suppressor gene mutation. The result of the mutation is dysfunctional control of the intestine mucosa cell proliferation. The risk of cancer's development in these mutation carriers is almost 100%. Because of the late occurrence of the first symptoms, most of the patients seek medical attention when the disease is advanced, even progressed to large intestine's cancer. FAP's diagnostics is based on both clinical and genetic assessment. Positive family history is an indication for surgical treatment and oncological supervision of the patient. The treatment of choice is a total colectomy (TC) with making ileal pouch-anal anastomosis (IRA) or proctocolectomy with the formation of an ileostomy (IPAA). We present a case report of a 30 years old woman with metastatic large intestine cancer (pT4bN1cM1). The patient has a positive family history. She had been diagnosed with FAP at the age of 18 and refused prophylactic surgical treatment then. The TC with greater omentum resection was performed. In the abdominoperineal act, the rectum with tumor, uterus, part of posterior vagina's wall, left adnexa, and parametrium were resected either. The definitive ileostomy was created. No complications during the early postoperative period were observed. The patient was given recommendations and discharged from the hospital. The operation in patients with FAP is the only way to avoid cancer development and to maintain a relatively good quality of life. The availability of less radical, rectum sparing methods must be presented to each patient at an early stage of the disease. The intensification of the FAP patients' education to achieve a better awareness in order to decrease the cancer transformation rate is needed. The challenge remains to standardize the treatment regimen in the early stages of FAP treatment and to maintain a registry of FAP patients in order to coordinate the care. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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