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]
Occasionally children with FAP can present with rectal bleeding sometimes associated with mucus. When present gastrointestinal symptoms usually develop in the second or third decade of life in patients with FAP. [clinicaladvisor.com]
Entire Body System
- Familial Adenomatous Polyposis
Quick Summary: Familial Adenomatous Polyposis Syndrome is a genetic disorder that increases an individual’s chance of developing colon cancer There are two types of Familial Adenomatous Polyposis Syndrome: Classical Familial Adenomatous Polyposis Syndrome [dovemed.com]
polyposis [ pol″ĭ-po´sis ] the formation of numerous polyps. familial polyposis ( familial adenomatous polyposis (FAP)) a hereditary condition marked by multiple adenomatous polyps with high malignant potential, lining the intestinal mucosa, especially [medical-dictionary.thefreedictionary.com]
Attenuated FAP, Mild form of FAP, Attenuated familial polyposis coli, Attenuated adenomatous polyposis coli, AFAP Symptoms - Attenuated familial adenomatous polyposis Causes - Attenuated familial adenomatous polyposis Prevention - Attenuated familial [checkorphan.org]
Familial adenomatous polyposis can have different inheritance patterns. [ghr.nlm.nih.gov]
History Familial adenomatous polyposis Familial adenomatous polyposis (FAP) presents with multiple adenomatous polyps, anywhere from 100s to 1000s, throughout the colon (see the image below). Familial adenomatous polyposis, total colectomy specimen. [emedicine.medscape.com]
- Asymptomatic
Presentation Family history: asymptomatic but requesting investigation/counselling. Deeply pigmented lesions on the lips (cross the vermillion border) and buccal mucosa. [patient.info]
The patient has remained asymptomatic postpolypectomy. The most common gastrointestinal manifestation of TS is hamartomatous polyps of the rectosigmoid (1,2). In 1 report, 11 of 15 patients had hamartomatous rectal polyps (3). [journals.lww.com]
The disease is characterized by a long asymptomatic initial stages. Some types of polyps are prone to turn into malignant transformation, which explains the importance of their timely diagnosis and treatment. [hmcisrael.com]
Symptoms Many polyps are asymptomatic; the larger the lesion, the more likely it is to cause symptoms. Rectal bleeding is by far the most frequent complaint. [healthcentral.com]
The majority of children and adolescents with FAP are asymptomatic although patients can present with rectal bleeding. Generally these patients have a severe phenotype with extensive polyposis. [clinicaladvisor.com]
- Weight Loss
On questioning, a history of diarrhoea, taste disturbance and weight loss was found. The onset of these changes coincided with the administration of thyroxine prescribed for a benign multinodular goitre. [ncbi.nlm.nih.gov]
However, her diarrhea recurred again, resulting in a total of 25 lb weight loss, with hair thinning, loss of fingernails, and hyperpigmentation of the skin ( Figure 4 ). [file.scirp.org]
These include anemia, thromboembolic episodes, hypocalcemia, hypomagnesemia, hypokalemia, electrolyte depletion, and weight loss. Fatty degeneration may cause abnormal liver function test results. [suprepkit.com]
- Swelling
She underwent an esophagogastroduodenoscopy (EGD) which revealed prominent gastric folds in the entire stomach, with diffuse edematous mucosa and nodular swelling ( Figure 2 ). [file.scirp.org]
Gastrointestinal
- Vomiting
Symptoms of intestinal polyps As mentioned above, polyps usually cause no symptoms but people can experience the following signs: Abdominal pain, cramps Rectal bleeding Nausea and vomiting Stool appear black Diarrhea or constipation A sense of tiredness [hmcisrael.com]
However, if you do experience symptoms, they may include: blood in the stool or rectal bleeding pain, diarrhea, or constipation that lasts longer than one week nausea or vomiting if you have a large polyp Blood on your toilet tissue or blood-streaked [healthline.com]
Obstruction may cause constipation, vomiting and peritonitis. Dental abnormalities may cause jaw pain. Gastric polyps may cause epigastric pain or bleeding. Duodenal polyps may cause pain, bleeding or obstructive jaundice. [patient.info]
Some cases, especially when larger polyps are present, might present the following symptoms: Nausea and vomiting Bleeding Persistent constipation Pain and cramps in the abdominal area Disruption of the normal bowel movement Diagnosis of Intestinal Polyps [marinahospital.com]
Cronkhite-Canada syndrome Cronkhite-Canada syndrome may occur with loss of the sense of taste and with xerostomia, glossitis, anorexia, dysphagia, vomiting, abdominal pain, protein-loosing enteropathy, and diarrhea. [suprepkit.com]
- Nausea
All presented with intermittent abdominal pain and other upper abdominal symptoms such as bloating and nausea. [sages.org]
Symptoms of intestinal polyps As mentioned above, polyps usually cause no symptoms but people can experience the following signs: Abdominal pain, cramps Rectal bleeding Nausea and vomiting Stool appear black Diarrhea or constipation A sense of tiredness [hmcisrael.com]
However, if you do experience symptoms, they may include: blood in the stool or rectal bleeding pain, diarrhea, or constipation that lasts longer than one week nausea or vomiting if you have a large polyp Blood on your toilet tissue or blood-streaked [healthline.com]
Some cases, especially when larger polyps are present, might present the following symptoms: Nausea and vomiting Bleeding Persistent constipation Pain and cramps in the abdominal area Disruption of the normal bowel movement Diagnosis of Intestinal Polyps [marinahospital.com]
- 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]
- Loss of Appetite
She also had loss of appetite and pruritic rash on the inner thighs. She initially went to ER for the diarrhea, but was found to have pneumonia and treated with levaquin. Her diarrhea continued. [file.scirp.org]
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]
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]
However, children with several polyps, polyps in the rest of the intestine or polyps with unusual characteristics when studied in the lab may have a far more serious condition. [childrensmercy.org]
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]
Colorectal cancer prevention: is an ounce of prevention worth a pound of cure? Semin Oncol. 2005 Feb;32(1):24-34. Review. 6. Dietary calcium supplementation for preventing colorectal cancer and adenomatous polyps. [passeportsante.net]
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]