Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The familial adenomatous polyposis syndrome is an autosomal dominant inherited disease characterized by progressive development of multiple adenomatous polyps throughout the colon and rectum. Due to the malignant potential of adenomatous polyps, colorectal cancer develops in 100% of cases, approximately 10-15 years after the onset of symptoms. Extracolonic manifestations of the disease including adenomatous polyps of the stomach, duodenum, small intestine and periampullatory region are rare. The etiology of the disease is germline mutation at the site of tumor suppressor gene located on chromosomes 5q21-22. A case is described of a 48-year-old man hospitalized at the Department of Abdominal Surgery, Sveti Duh General Hospital in Zagreb for the treatment of familial adenomatous polyposis syndrome. For some time the patient reported occasional abdominal pain, frequent stools and diarrhea with blood, anemia and body weight loss. Laboratory, radiology and endoscopy examinations verified multiple adenomatous polyps of the colon and rectum, also with polyps of the stomach, duodenum and jejunum. Histopathology confirmed the polyps to show moderately poorly differentiated cylindric epithelium and moderate to severe dysplasia. Radical surgery was required, so proctocolectomy with Brook ileostomy was performed. The postoperative recovery and wound healing were normal. The patient was discharged twelve days of the surgery for home care. Oncologic treatment was suggested. Verified extracolonic manifestations of the disease require periodical endoscopic follow up and possible treatment.
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PMID:[Familial adenomatous polyposis with extracolonic manifestations--case report]. 1575 9

Mesenteric fibromatosis (MF) is a rare, benign tumor commonly associated with Gardner's syndrome. The signs and symptoms in patients with MF are insidious. Patients may present with abdominal pain or discomfort when the tumors reach large sizes, which is typical at the time of diagnosis. Differentiating MF from other neoplasms such as gastrointestinal stromal tumors may present a diagnostic dilemma, especially in patients without any history of familial adenomatous polyposis. In the present report, we discuss a young girl who presented with MF. A pertinent review of the literature is also presented. This case is peculiar in that MF presented at a young age in a patient without history of familial adenomatous polyposis and occurred in the omentum with local invasion to the stomach.
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PMID:Mesenteric fibromatosis in a young girl without familial adenomatous polyposis. 1593 4

A patient with familial adenomatous polyposis (FAP) presented with a relapsing attack of acute pancreatitis. Evaluation using computed tomography, ultrasonography, and duodenoscopy revealed an ampullary adenoma, which was classified as Spigelman's stage III according to Spigelman's criteria. The patient underwent a pylorus-resected pancreatoduodenectomy, and has had no abdominal pain suggesting acute pancreatitis for 1 year after surgery. Only a few reports of acute pancreatitis due to ampullary neoplasms in patients with FAP are available. Relapsing acute pancreatitis is another surgical indication for premalignant periampullary neoplasms in FAP.
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PMID:Relapsing acute pancreatitis due to ampullary adenoma in a patient with familial adenomatous polyposis. 1698 70

A 58-year-old female with a recurrent history of upper abdominal pain and intermittent dysphagia underwent endoscopic evaluation that demonstrated an irregular and nodular esophago-gastric (EG) junction and grade I erosive esophagitis. Biopsies showed prominent intestinal metaplasia of Barrett's type without dysplasia, chronic inflammation and multiple aggregates of large cells within the mucosal lamina propria, some with spindle shaped nuclei. Immunohistochemistry stains for keratins AE-1/AE-3 were negative, while S-100 and NSE were positive. This, together with routine stains, was diagnostic for mucosal ganglioneuromatosis. The background of chronic inflammation with intestinal type metaplasia was consistent with long-term reflux esophagitis. No evidence of achalasia was seen. Biopsies of gastric antrum and fundus were unremarkable, without ganglioneural proliferation. Colonoscopy was unremarkable. No genetic syndromes were identified in the patient including familial adenomatous polyposis and multiple endocrine neoplasia type IIb (MEN IIb). Iansoprazole (Prevacid) was started by oral administration each day with partial relief of symptoms. Subsequent esophagogastroscopy repeated at 4 mo showed normal appearing EG junction. Esophageal manometry revealed a mild non-specific lower esophageal motility disorder. Mild motor dysfunction is seen with gastro-esophageal reflux disease (GERD) and we feel that the demonstration of localized ganglioneuromatosis was not likely related etiologically. In the absence of findings that might suggest neural hypertrophy, such as achalasia, the nodular mucosal irregularity seen with this instance of ganglioneuromatosis may, however, have exacerbated the patient's reflux.
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PMID:Sporadic ganglioneuromatosis of esophagogastric junction in a patient with gastro-esophageal reflux disorder and intestinal metaplasia. 1720 37

Pancreatoblastoma (PB), or infantile pancreatic carcinoma, is an extremely rare pancreatic tumor in childhood, comprising 0.5% of pancreatic non-endocrine tumors. Although PB mainly presents during childhood but can also occur in adults. PB tend to be less aggressive in infants and children compared to adults. Children with PB usually present late with upper abdominal pain and many have a palpable mass in the epigastrium. Mechanical obstruction of the upper duodenum and gastric outlet by tumor in the head of the pancreas may be associated with vomiting, jaundice and gastrointestinal bleeding. Histologically, PB is characterized with distinct acinar and squamoid cell differentiation. PB has been associated with alterations in the Wnt signaling pathway and chromosome 11p loss of heterozygosity (LOH), Beckwith-Wiedemann syndrome and familial adenomatous polyposis. The majority of these tumors arise in the head of the pancreas. Alpha-fetoprotein may be elevated in up to 68% of patients with PB. Ultrasound and CT scan may be useful but preoperative diagnosis is often quite difficult. The treatment of choice is complete resection, that may often be curative. The role of adjuvant chemotherapy or radiotherapy is still under discussion due to small number of patients treated as yet. Chemotherapy regimens consisting of cyclophosphamide, etoposide, doxorubicin, and cisplatin have been used in neoadjuvant setting with anecdotal benefit. Prognosis of this rare tumor is good, when resected completely. Prognosis is poorer, when there is metastasis or when it is inoperable. On the whole, PB is regarded to be a curable tumor; hence the clinical diagnosis should be made early. Awareness of this rare tumor of pancreas is essential for early detection and proper management. The author review the clinical presentation, etiology, diagnosis, treatment and prognosis of PB in this presentation.
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PMID:Pancreatoblastoma. 1722 35

We report a case of relapsing pancreatitis in familial adenomatous polyposis (FAP) with severe duodenal adenomatosis (Spigelman's stage IV). A 58-year-old man who had undergone total colectomy for FAP 18 years earlier was hospitalized for carcinoma arising from the residual rectum. He had experienced several episodes of upper abdominal pain and ultrasonography and computed tomography (CT) showed diffuse calcification of the atrophic pancreas, suggestive of chronic pancreatitis. He had severe diabetes mellitus, but had no symptoms of pancreatic exocrine dysfunction. Upper endoscopy showed multiple duodenal adenomas including carcinoma involving the papilla of Vater. To remove these duodenal adenomas and ampullary carcinoma and prevent recurrent pancreatitis, we performed pancreaticoduodenectomy. On pathologic examination, the major duodenal papilla was completely obstructed by the carcinoma, and the minor papilla was also involved by the adenoma. The patient has no evidence of disease and has experienced no pancreatitis in 3 years of follow-up.
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PMID:Recurrent pancreatitis caused by ampullary carcinoma and minor papilla adenoma in familial polyposis: report of a case. 1856 Sep 68

Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system). A less aggressive variant of FAP, attenuated FAP (AFAP), is characterized by fewer colorectal adenomatous polyps (usually 10 to 100), later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back) are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC) gene. Most patients (~70%) have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP), which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a suggestive family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling), and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome). Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform). Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program.
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PMID:Familial adenomatous polyposis. 1982 6

Based on a representative selection of relevant references, the aim of this study was to reflect the change of the algorithm in the surgical management of desmoid tumours (DT) in cases of accompanying familial adenomatous polyposis (FAP). Main focus is concerned with the basics of differential treatment, including additional considerations on epidemiology, diagnosis, outcome and follow-up. DT are rare benign tumours that do not metastasise but tend to invade locally. In contrast to the general population, DT in patients with FAP are more common, show a different pattern of tumour sites and cause considerable morbidity and mortality. Most DT occur in the abdominal cavity and account for the majority of serious problems. Genetic disposition and hormonal factors as well as prior surgical trauma are considered causative for the development of DT. Characteristic symptoms are abdominal pain, nausea and vomiting but DT may also present as acute abdomen. CT scan determines localisation and extension of the tumour. Treatment includes various strategies of medication, surgical resection and radiation. Data concerning diagnostic and therapeutic procedures are based on studies with small case series or case reports only. Therefore data from international multicentre studies are necessary for improving the prognosis and developing reliable and stringent guidelines.
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PMID:[Current diagnosis and treatment of desmoid tumours in patients with familial adenomatous polyposis - the surgical view]. 1990 78

Familial adenomatous polyposis represents approximately 1% of all colorectal tumours and is caused by germline mutations in the adenomatous polyposis coli (APC) gene. A 38-year-old lady presented with abdominal pain, diarrhoea and iron deficiency anemia. There was no history of colorectal cancer in the family. Colonoscopy showed hundreds of polyps throughout the colon sparing the rectum, and an ulcerative tumour of the sigmoid colon. The diagnosis was familial adenomatous polyposis (FAP) and adenocarcinoma of the sigmoid colon. Colectomy with ileorectal anastomosis was performed and later on she was given chemotherapy and advice life long surveillance. The patient had one brother and one sister, without clinical symptoms. The brother had a single hyperplastic rectal polyp, while the sister refused colonoscopy. The patient has 2 sons, the elder son had normal colonoscopic findings, and the younger son was also diagnosed as a patient of FAP and referred for colectomy.
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PMID:Familial adenomatous polyposis. 2127 87

Multiple intestinal lipomas (lipomatous polyposis) are quite rare, and they can be quite challenging to diagnose because this condition may be clinically confused with familial adenomatous polyposis with a suggestive family history. Herein, we present a case of lipomatous polyposis that was presented with abdominal pain and, in colonoscopy, had more than 100 polyps. The patient was admitted for surgery with diagnosis of familial polyposis. Resected colon specimen had multiple polyps ranging from 0.1 to 1.5 cm. Microscopically, the polyps were composed of mature adipose tissue with normal overlying mucosa. There were also increased fat cells in the submucosa of the colon adjacent to the polyps. Lipomatous polyposis rarely occurs and can be confused with familial polyposis. Polypectomy is a simple and cost-effective procedure to help in diagnosis and prevent a major surgery.
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PMID:Lipomatosis coli, a mimicker of familial polyposis. 2205 34


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