Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0740577 (acute abdominal pain)
 1,982 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary angioneurotic oedema is a rare complement-related disorder (C1-esterase-inhibitor deficiency) characterised by recurrent episodic swelling of the limbs, face, gastrointestinal tract, or airways. The mortality rate of the unrecognised disorder is 30 per cent, mainly due to airway obstruction. Two female patients (aged 29 and 61 years) with proven disease were studied by ultrasonography while they suffered from acute abdominal pain: Ultrasound imaging showed a diffuse oedematous but compressible gut wall with reduced bowel motility, distended bowel loops with intraluminal fluid accumulation and free fluid in the peritoneal cavity. The ultrasonographic feature was different from that of other gastrointestinal diseases. In combination with the patient's history, the clinical pattern and the normal routine laboratory findings, abdominal ultrasonography is a suitable tool for early diagnosis of a potentially life-threatening disorder.
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PMID:[Abdominal sonography in hereditary angioneurotic edema. A contribution to the early diagnosis of a disease of interdisciplinary significance]. 332 42

Patients with hereditary angioedema (HAE) may suffer from abdominal pain severe enough to prompt unnecessary surgical intervention. The diagnostic approach to abdominal pain during HAE attacks is not established. We describe abdominal sonographic findings during severe colic in 2 patients with known HAE. Sonography demonstrated marked mucosal thickening and edema of the bowel wall with a variable amount of free peritoneal fluid. These findings are not specific but are consistent with the hypothesized mechanism of attack and resolve after therapy. Abdominal sonography is useful for evaluating acute abdominal pain in patients with known HAE to prevent unnecessary surgery. Conversely, if the described sonographic findings appear in a case of abdominal colic of unknown origin, HAE should be included in the differential diagnosis.
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PMID:Sonographic findings in abdominal hereditary angioedema. 1052 17

We report a patient with hereditary angioedema (HAE) presenting with skin edema and abdominal pain. Laboratory examination showed reduced levels of CH50, C2, C4, and C1 inhibitor (C1-INH). Abdominal computed tomography (CT) showed marked mesenteric edema and wall thickening of the duodenum and transverse colon. Acute abdominal pain is common in HAE and is difficult to distinguish from surgical emergency. Massive mesenteric edema on CT is a rare, but specific, sign suggesting HAE.
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PMID:Massive mesenteric edema in a patient with type I hereditary angioedema. 1702 94

Accurate and timely diagnostics of acute abdominal pain, a common emergency, is crucial in decreasing unnecessary surgical interventions. We present the case of a patient, Xh. M. aged 21, transported to emergency after being wakened from sleep by severe, acute abdominal pain. The pain was non-radiating, colic, and associated with flatulence, nausea and vomiting. The family history was negative regarding Angioedema, which decreases but does not exclude the possible appearance of hereditary Angioedema. All laboratory and imaging findings were normal, besides the low levels of C4 complement component were 4.56 mg/dl (normal values 10-40), functional C1-esterase INH was 10.29% (normal values 80-130) C1-estrease inhibitor (protein) 4.58 mg/dl (normal values 16-33), indicating HAE typ I. Regardless of negative medical history in the family of hereditary angioedema, de novo mutation most probably led to her being the first case in the family. The case we have presented confirms the need to include hereditary angioedema as a differential diagnostic possibility in patients with acute abdominal pain, even more so as timely and precise diagnostics enable avoidance of unnecessary surgical interventions.
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PMID:Acute abdominal pain with a spontaneous resolution as a mark to the diagnosis of hereditary angioedema. 2342 72