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Intestinal Polyposis
Intestinal Polyposis Syndrome

Presentation

Excised polyps presented as benign hamartomas, without malignant alteration. Mucocutaneous pigmentations were present in 4 patients. Family history was revealing in only 2 cases. [ncbi.nlm.nih.gov]

All presented with intermittent abdominal pain and other upper abdominal symptoms such as bloating and nausea. [sages.org]

Gastrointestinal

  • Intestinal Disease

    CT and MR techniques have the added advantage that both offer the capability of imaging extra-intestinal disease associated with many of the colon polyposis syndromes. [suprepkit.com]

Workup

Colonoscopy

  • Polyps

    A subgroup of patients will develop periampullary carcinoma, again arising from the presence of adenomatous polyps. Such a case is presented. These polyps should be surgically excised to ensure adequate pathologic examination. [ncbi.nlm.nih.gov]

    Polyps are first seen around puberty, and by age 35 years 95 per cent of patients have polyps. Without colectomy, colon cancer is inevitable. Extracolonic manifestations may also be present. [medical-dictionary.thefreedictionary.com]

    Polyp Development Polyps in classic FAP develop during the first and second decade of life. Polyp development in classic FAP occurs in the rectosigmoid. Polyps less than 2 mm are often difficult to see without dye spray. [clinicaladvisor.com]

Treatment

BACKGROUND: Colorectal cancer is one of the most common cancers in the world, with overall mortality exceeding 40% even with treatment. [ncbi.nlm.nih.gov]

These situations can fall into a gray area, not only for diagnosis, but also for the correct treatment and follow-up. New developments in pathophysiology and treatment options are leading to new questions. [books.google.de]

Prognosis

Prognosis - Attenuated familial adenomatous polyposis Not supplied. Treatment - Attenuated familial adenomatous polyposis Resources - Attenuated familial adenomatous polyposis [checkorphan.org]

[…] there are currently no methods to prevent it Please find comprehensive information on Familial Adenomatous Polyposis Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis [dovemed.com]

- Prognosis - poor [histopathology-india.net]

Prognosis Colon cancer will develop in all affected individuals unless prophylactic colectomy is performed. After total colectomy with ileo-rectal anastomosis, the recurrence rate is 30% after 20 years and 45% after 30 years. [patient.info]

Etiology

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

The etiology of CCS is still obscure, but an autoimmune process has been suggested. [file.scirp.org]

Table 18: Cowden’s Disease Table 19: Ruvalcaba-Myhre-Smith Syndrome INTESTINAL GANGLIONEUROMATOSIS This disorder is heterogeneous in its genetic etiology and depends on the parent syndrome, as summarized in Table 20 ( 49 ). [nature.com]

Cronkite-Canada syndrome The etiology of CCS in unknown. As of now, no mutations causing the syndrome have been discovered, and familial predisposition is not evident. [emedicine.medscape.com]

Epidemiology

This article examines the epidemiology, clinical presentation, genetic basis, differential diagnosis, endoscopic and surgical management of FAP. [utah.pure.elsevier.com]

[…] general Autosomal dominant familial polyposis syndrome due to a defect in the APC gene (5q21) which prototypically results in numerous ( > 100) colonic adenomatous polyps Terminology Also known as familial polyposis coli or adenomatous polyposis coli Epidemiology [pathologyoutlines.com]

Epidemiology The incidence of familial polyposis of the colon is about 1 in 10,000 live births [ 1 ]. Colonic polyps begin developing at a mean age of 15 years [ 1 ]. [patient.info]

Goto, A. (1995) Cronkhite-Canada Syndrome: Epidemiological Study of 110 Cases Reported in Japan. GekaHokan, 64, 3-14. [file.scirp.org]

This alternative pathway is not associated with the APC gene and leads to a CpG island methylator phenotype carcinoma. [15] Epidemiology Frequency United States The frequency depends on the specific syndrome and does not vary drastically between the United [emedicine.medscape.com]

Pathophysiology

New developments in pathophysiology and treatment options are leading to new questions. [books.google.de]

Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management. 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 126. [medlineplus.gov]

[…] epithelium [CHRPE]) or juvenile nasopharyngeal angiofibromas Gardner syndrome encompasses the subset of FAP patients with extraintestinal tumors Turcot syndrome encompasses the subset of FAP patients with brain tumors, which are typically medulloblastomas Pathophysiology [pathologyoutlines.com]

Although its inheritance is unclear, hereditary and sporadic cases have been described in the literature. [15] Pathophysiology With the exception of Cronkhite-Canada Syndrome, all of the intestinal polyposis syndromes have been associated with genetic [emedicine.medscape.com]

Prevention

Effective efforts for screening and prevention are most likely to succeed in patient groups identified as high risk for colorectal cancer, most notably the hereditary intestinal polyposis syndromes. [ncbi.nlm.nih.gov]

signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE. [dovemed.com]

Maintaining a healthy diet can help prevent the development of colonic polyps. This includes eating more fruits, vegetables, whole grains, and lean meat. You may also be able to prevent polyps by increasing your intake of vitamin D and calcium. [healthline.com]

Longer-term studies may also help answer whether the drug combination prevents new polyps from forming in addition to shrinking existing polyps. [cancer.gov]

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