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 syndrome of acquired angio-oedema is characterized by late onset of recurrent bouts of angio-oedema or abdominal pain and may be caused by an acquired deficiency of C1-inhibitor (C1-INH), the inhibitor of the first component of complement. Acquired C1-INH deficiency has been described in approximately 50 patients and is strongly associated with malignant B-cell proliferations. We describe a patient with an 8-year history of recurrent abdominal symptoms and angio-oedema with acquired C1-INH deficiency, caused by the presence of IgA-kappa antibodies that inactivate C1-INH. Analysis of the bone marrow revealed an IgA-kappa monoclonal population of plasma cells, without evidence of overt myeloma. Angio-oedema caused by an autoantibody of the IgA isotype is extremely rare and has never been described in a Dutch patient. Recognition of angio-oedema, both hereditary and acquired, is important because of the therapeutic consequences, as will be discussed.
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PMID:Acquired angio-oedema caused by IgA paraprotein. 957 38

Hereditary angioneurotic edema (HAE) is an infrequent autosomal dominant disorder characterized by a decrease in the levels or a dysfunction of the complement C1 inhibitor factor (C1 inh). The clinical presentation varies widely and involves any area of the organism. Gastrointestinal involvement is usually as abdominal pain and may be accompanied by ascites. De novo diagnosis of HAE with abdominal pain and ascites as a form of presentation is difficult with differential diagnosis with abdominal pain of unknown origin. The appearance of ascites is rare with few cases reported in the literature. Both abdominal pain and ascites disappear a few days after initiation of medical treatment. Occasionally exploratory laparotomy has been required. A new case of abdominal pain and ascites as manifestations of HAE is herein reported.
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PMID:[Abdominal pain and ascites as manifestations of hereditary angioneurotic edema]. 964 77

Hereditary angioedema is caused by a defect in C1 inhibitor activity (C1INH). Its occurrence is rare and it is associated with an autosomal dominant mode of inheritance. We describe seven patients (4M:3F), age from 12 to 50 years old, who are affected by hereditary angioedema; four of them belong to the same family. The main clinical manifestations were: angioedema of face, hands and feet (6/7) and abdominal pain (2/7). No triggering factors were associated with symptoms in 4/7 patients and trauma (2/7) and menses (1/7) were reported in the other three ones. One patient was submitted to laparotomy for partial intestinal resection, before diagnosis. Laboratory complement analysis revealed the absence of hemolytic function of complement, reduced C4 (6/7) and low C1INH levels. All patients received Danazol (100 mg/day) with clinical control. Hereditary angioedema has to be considered in the differential diagnosis of angioedema, since an early diagnosis of this immunodeficiency, leading to specific treatment in order to decrease the complications.
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PMID:[Hereditary angioedema: clinical and laboratory aspects of 7 cases]. 965 39

We present the first reported case of hereditary angioedema (HAE) with gastric involvement to be successfully evaluated by endoscopy both during and after an attack. A 31-year-old man who had a family history of angioedema was admitted to our hospital with complaints of abdominal pain and swelling of extremities. Computed tomography scan and endoscopy carried out during this attack revealed transient gastrointestinal wall edema which, along with decreased levels of serum C4 and C1 inhibitor, confirmed the diagnosis of HAE with gastrointestinal involvement. During the attack, the gastric mucosa was erythematous and edematous, and parts of its surface bulged into the gastric lumen, resembling a submucosal tumor, as a result of massive submucosal edema. During the healing process, a number of small nodules and raised erosions developed over the entire gastric mucosal surface after healing of prominent gastric edema. Within 55 days, the gastric mucosa had returned to normal. The endoscopic findings for the stomach in HAE have not, to our knowledge, been previously described.
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PMID:Hereditary angioedema with gastrointestinal involvement: endoscopic appearance. 1037 61

We report a case of hereditary angio-edema in a young man presenting with recurrent abdominal pain for many years. The diagnosis was suspected on the basis of abdominal CT performed during an abdominal attack and was then confirmed by the measurement of serum concentration of C1 esterase inhibitor (C1-INH). To our knowledge, this is the first case reported of the hereditary form of angio-edema with isolated abdominal pain and in which the diagnosis was suggested by abdominal CT findings.
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PMID:Hereditary angio-edema involving the gastrointestinal tract: CT findings. 1119 25

Hereditary angioedema (HAE) is a hereditary disorder (deficiency of C1 esterase inhibitor) with spontaneous cutaneous and subcutaneous edemas, which involve the gastrointestinal tract in 50 - 75 %. Recurrent abdominal pain attacks in younger patients with an ultrasonographic evidence of aszites (up to 1 - 2 litres are frequent), should always let think of a HAE. Additionally in one female patient we found pleural effusion repeatedly during the episodes. HAE typically shows segments of GI-tract with a marked wall thickening. In our patients stomach (2 x), small bowel (2 x) and colon (1 x) were involved. Obstruction of the lumen by the edema may cause vomiting or ileus. By means of high-resolution sonography we could show for the first time that only mucosal and submucosal layer were affected, the L. muscularis propria was preserved. Characteristic was a hypoechoic thickening of the interior layers of the wall: In one patient we found anechoic lacunae within the mucosal layer, probably corresponding to a bullous edema. An accurate ultrasonic examination enables a reliable judgement of the severity level of HAE. It can contribute in this way to the decision whether the application of C1-INH-concentrate is necessary or not.
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PMID:[Sonography in hereditary angioedema: typical findings demonstrated by the example of 3 cases]. 1152 98

The authors describe a case of hereditary angioedema characterised by abdominal pain accompanied by ascites. Ultrasound (US) examination performed after acute abdominal attack implied the presence of increased splenoportal axis calibre and reduced blood flow. According to the authors, this may confirm the pathogenic role of C1-inhibitor deficiency induced oedema that is capable of creating major haemodynamic involvement also of abdominal vessels. US findings of transient appearance, especially related to the specific treatment, may help physicians make early diagnosis and avoid dangerous invasive procedures resulting from incorrect diagnosis of acute abdomen.
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PMID:Changes in splenoportal axis calibre and flow in a patient affected by hereditary angioedema. 1167 28

Hereditary angioedema (HAE) is an autosomal dominant disease that afflicts 1 in 10,000 to 1 in 150,000 persons; HAE has been reported in all races, and no sex predominance has been found. It manifests as recurrent attacks of intense, massive, localized edema without concomitant pruritus, often resulting from one of several known triggers. However, attacks can occur in the absence of any identifiable initiating event. Historically, 2 types of HAE have been described. However, a variant, possibly X-linked, inherited angioedema has recently been described, and tentatively it has been named "type 3" HAE. Signs and symptoms are identical in all types of HAE. Skin and visceral organs may be involved by the typically massive local edema. The most commonly involved viscera are the respiratory and gastrointestinal systems. Involvement of the upper airways can result in severe life-threatening symptoms, including the risk of asphyxiation, unless appropriate interventions are taken. Quantitative and functional analyses of C1 esterase inhibitor and complement components C4 and C1q should be performed when HAE is suspected. Acute exacerbations of the disease should be treated with intravenous purified C1 esterase inhibitor concentrate, where available. Intravenous administration of fresh frozen plasma is also useful in acute HAE; however, it occasionally exacerbates symptoms. Corticosteroids, antihistamines, and epinephrine can be useful adjuncts but typically are not efficacious in aborting acute attacks. Prophylactic management involves long-term use of attenuated androgens or antifibrinolytic agents. Clinicians should keep this disorder in their differential diagnosis of unexplained, episodic cutaneous angioedema or abdominal pain.
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PMID:Hereditary angioedema: a broad review for clinicians. 1237 28

Isolated angioedema, without urticaria or itching, occurs as a result of an inherited or acquired defect in C1 esterase inhibitor activity. Most cases of isolated angioedema are caused by one of two types of hereditary angioedema (HAE). We present a case of the much rarer type II HAE with abdominal pain as the sole presenting symptom. Hereditary angioedema should be suspected in young adults with episodic abdominal pain for which common causes have been excluded. A history of HAE or episodic abdominal pain in family members is not necessary for diagnosis.
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PMID:Hereditary angioedema as a cause of transient abdominal pain. 1174 47

Hereditary angioedema is a rare disorder characterized by quantitative or qualitative deficiency of complement C1 esterase inhibitor. We report a family whose members presented with recurrent angioedema and abdominal pain; the diagnosis was confirmed by quantitative assay of C1 inhibitor. The index patient was treated with danazol and was relieved.
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PMID:Hereditary angioedema with recurrent abdominal pain. 1199 Mar 38


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