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)

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