Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021933 (intussusception)
 3,822 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The radiological diagnosis and interventional management of neuroendocrine tumours of the gastrointestinal tract and pancreas are challenging, demanding the complete gamut of available resources. Carcinoid tumours are most commonly found in the appendix and small bowel. Barium studies usually disclose a small solitary mucosal or submucosal mass in the distal ileum at times associated with smooth muscle hypertrophy and thickening of the mucosal folds. Intussusception and bowel obstruction may be the presenting finding. Mesenteric involvement may evoke a desmoplastic reaction with rigidity, fixation, angulation and tethering of small bowel loops. Angiography may demonstrate a hypervascular primary neoplasm but more frequently reveals vascular encasement and distortion from the mesenteric desmoplastic reaction. Pancreatic islet cell tumour is best defined radiologically by angiography and computed tomography as a well circumscribed hypervascular mass which enhances with contrast material. Portal venous sampling is of considerable assistance in localizing insulinoma. Metastases from neuroendocrine tumours to lymph nodes and to the liver are usually hypervascular. In the evaluation of the liver by CT scanning prior to contrast as well as dynamic scanning during the bolus intravenous injection of contrast material are necessary. At times the precontrast scan is more revealing. Computed tomography with the catheter in the superior mesenteric artery followed by selective hepatic arteriography is the most accurate combination for the detection of hepatic metastases. Interventional radiological management by sequential hepatic arterial embolization is the treatment of choice for multiple hepatic metastases from neuroendocrine tumours. Thus far, the maximum number of embolic episodes in a single patient has been 13. The carcinoid syndrome has been controlled in 87% while 79% of islet cell tumour hepatic metastases have responded. Contraindications to HAE includes a combination of all of the following: (i) replacement of more than 50% of the liver by tumour, (ii) serum lactic dehydrogenase above 425 mU/ml, (iii) serum glutamic oxaloacetic transaminase above 100 mU/ml, and (iv) bilirubin above 2 mg/dl. In the face of occlusion of the portal vein by intravascular neoplasm, HAE is contraindicated only if portal flow through collateral vein is away from the liver.
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PMID:Gastrointestinal and pancreatic endocrine tumours. 267 21

A 21-year-old man with a history of hereditary angioedema presented with protracted abdominal pain which failed to respond to infusion of C1 inhibitor concentrate. Evaluation by CT scan revealed extensive colorectal intussusception requiring surgical intervention. Under replacement therapy with C1 inhibitor concentrate, both the operation under general anesthesia and the postoperative phase were uneventful. The intraoperative examination suggested initiation of intussusception by local mucosal edema in the transverse colon.
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PMID:Colorectal intussusception: an unusual gastrointestinal complication of hereditary angioedema. 875 51

Hereditary angioedema is a rare, autosomal dominant disease inherited. The cause is a quantitative or qualitative congenital deficit in C1 inhibitor. Various clinical symptoms, in particular of sub-cutaneous, upper airways and digestive origin, have been described. Life threatening conditions may be observed. Little information is available on digestive tract localization corresponding to intestinal intussusception associated with hereditary angioedema in children. We report a case of hereditary angioedema observed in a 15-years-old girl who presented such features. We propose a review of the literature and discuss the curative treatment of digestive crisis in children with hereditary angioedema.
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PMID:[Hereditary angioedema causing colocolic intussusception]. 1832 67

Swelling is a common chief complaint among patients. Swelling and hives are not typical of hereditary angioedema. Organ transplantation drugs are associated with angiodema and may complicate diagnosis. Our objective was to manage a complex case of angioedema in a setting of rashes and liver transplantation. We present an illustrative case of angioedema, rashes, and intussusception in a setting of a liver transplant and tacrolimus use with a family history of autoimmune disease. Treatment with the kallikrein inhibitor, kalbitor, eliminated angioedema and intussusception, though not permanently. Serial C1 esterase [corrected] inhibitor levels were only suppressed during severe attacks of angioedema. C1q autoantibody was elevated. Although 95% of cases of hereditary angioedema (HAE) have low [corrected] C4 levels, those with C1q immune complexes have autoantibodies leading to low-grade inflammation and eventual consumption of C1 esterase inhibitor levels with C4 unaffected. Rashes associated with angioedema are not urticarial. Physicians should learn to recognize the signs of attacks of HAE.
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PMID:Angioedema in a child with a liver transplant, intussusception, and normal c4 levels. 2061 76

Hereditary Angioedema (HAE) is a rare autosomal dominant (AD) disease characterized by deficient (type 1) or nonfunctional (type 2) C1 inhibitor protein. The disorder is associated with episodes of angioedema of the face, larynx, lips, abdomen, or extremities. The angioedema is caused by the activation of the kallikrein-kinin system that leads to the release of vasoactive peptides, followed by edema, which in severe cases can be life threatening. The disease is usually not diagnosed until late adolescence and patients tend to have frequent episodes that can be severely impairing and have a high incidence of morbidity. Gastrointestinal involvement represents up to 80% of clinical presentations that are commonly confused with other gastrointestinal disorders such as appendicitis, cholecystitis, pancreatitis, and ischemic bower. We present a case of an HAE attack presenting as colonic intussusception managed conservatively with a C1 esterase inhibitor. Very few cases have been reported in the literature of HAE presentation in this manner, and there are no reports of any nonsurgical management of these cases.
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PMID:Hereditary Angioedema and Gastrointestinal Complications: An Extensive Review of the Literature. 2633 13

BACKGROUND Hereditary angioedema (HAE) is an autosomal disease caused either by deficiency or presence of a non-functioning C1 inhibitor. The lack or non-functionality of said inhibitors leads to activation of an inflammatory cascade, which result in cutaneous and mucosal edema. Most patients with HAE present with either cutaneous, laryngeal/pharyngeal, or gastrointestinal exacerbations. An uncommon gastrointestinal manifestation of HAE is an intussusception, which in most cases require invasive/surgical management. CASE REPORT A 17-year-old Hispanic female patient with past medical history of HAE, presented with a 4-day history of episodic abdominal pain, worsening during the last 2 days with associated nausea, vomiting, and bright red blood per rectum. The abdominal ultrasound performed at our institution showed an elongated region of hypoechoic and hyperechoic concentric rings, raising suspicion of an intussusception. The patient was treated conservatively, with 30 mg of ecallantide and a unit of fresh frozen plasma (FFP). Follow-up abdominopelvic computed tomography scan was performed approximately 20 hours after the administration of fresh frozen plasma revealing complete interval resolution of the colo-colonic intussusception. Subsequently, the patient was kept under hospital care for the next 4 days with adequate progression of diet and without recurrence of intussusception. CONCLUSIONS To the best of our knowledge, most cases of patient with HAE presenting with intussusception have been treated with invasive/surgical procedures. In our case, conservative management has proven successful to reduce edema with subsequent non-surgical reduction of the intussusception. By directly targeting the pathophysiologic aspects of HAE, an unnecessary invasive procedure, as well as its potential complications, were avoided.
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PMID:Non-Surgical Management of Colo-Colonic Intussusception in Patients with Hereditary Angioedema. 3030 75