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)

Acquired angioedema (AAE) is characterized by acquired deficiency of C1 inhibitor (C1-INH), hyperactivation of the classical pathway of human complement and angioedema symptoms mediated by bradykinin released by inappropriate activation of the contact-kinin system. Angioedema recurs at unpredictable intervals, lasts from two to five days and presents with edema of the skin (face, limbs, genitals), severe abdominal pain with edema of the gastrointestinal mucosa, life-threateing edema of the upper respiratory tract and edema of the oral mucosa and of the tongue. AAE recurs in association with various conditions and particularly with different forms of lymphoproliferative disorders. Neutralizing autoantibodies to C1-INH are present in the majority of patients. The therapeutic approach to a patient with AAE should first be aimed to avoid fatalities due to angioedema and then to avoid the disability caused be angioedema recurrences. Acute attacks can be treated with plasma-derived C1-INH, but some patients become non-responsive and in these patients the kallikrein inhibitor ecallantide and the bradykinin receptor antagonist icatibant can be effective. Angioedema prophylaxis is performed using antifibrinolytic agents and attenuated androgens with antifibrinolytic agents providing somewhat better results. Treatment of the associated disease can resolve AAE in some patients.
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PMID:Acquired angioedema. 2066 17

Hereditary angioedema is an episodic swelling disorder with autosomal dominant inheritance. Attacks are characterized by nonpitting edema of external or mucosal body surfaces. Patients often present with swelling of the extremities, abdominal pain, and swelling of the mouth and throat, which can at times lead to asphyxiation. The disease is caused by a mutation in the gene encoding the complement C1-inhibitor protein, which leads to unregulated production of bradykinin. Long-term therapy has depended on the use of attenuated androgens or plasmin inhibitors but in the US there was, until recently, no specific therapy for acute attacks. As well, many patients with hereditary angioedema in the US were either not adequately controlled on previously available therapies or required doses of medications that exposed them to the risk of serious adverse effects. Five companies have completed or are currently conducting phase III clinical trials in the development of specific therapies to terminate acute attacks or to be used as prophylaxis. These products are based on either replacement therapy with purified plasma-derived or recombinant C1-inhibitor, or inhibition of the kinin-generating pathways with a recombinant plasma kallikrein inhibitor or bradykinin type 2 receptor antagonist. Published studies thus far suggest that all of these products are likely to be effective. These new therapies will likely lead to a totally new approach in treating hereditary angioedema.
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PMID:An overview of novel therapies for acute hereditary angioedema. 2086 13

Hereditary angioedema (HAE) is a relatively rare genetic disorder caused by a deficiency of C1 esterase inhibitor (C1-INH). Common clinical presentations are abdominal pain and localized edema of the skin, with laryngeal edema being potentially life-threatening. Replacement therapy with C1-INH concentrate is recommended for treatment of acute HAE attacks and results in rapid resolution of symptoms. C1-INH concentrate can also be used for prophylaxis of HAE and is recommended in cases where standard prophylactic agents are ineffective or not tolerated. This case study describes the use of C1-INH concentrate as a home therapy for on-demand and prophylactic self-administration in a patient with HAE. This treatment approach was well tolerated and effective, leading to a dramatic improvement in symptoms and improved quality of life.
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PMID:Long-term prophylaxis of hereditary angioedema with a pasteurized C1 inhibitor concentrate. 2097 89

Hereditary angioedema is a rare genetic disorder resulting from an inherited deficiency or dysfunction of the C1 inhibitor. It is characterized by recurrent, circumscribed, and self-limiting episodes of cutaneous and mucous membrane swelling involving different organs. Hereditary angioedema may present with diverse clinical pictures, even within families with the same mutation. We present a first reported case of type 1 hereditary angioedema in a young woman presenting as recurrent abdominal pain associated with ascites without any other clinical features of hereditary angioedema, with initial presentation in puerperium. The recognition or awareness of hereditary angioedema as a cause of acute and/or recurrent abdominal pain associated with ascites is important, and may avoid unnecessary invasive procedures and facilitate appropriate treatment.
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PMID:Initial presentation of hereditary angioedema as abdominal pain and ascites in puerperium: case report. 2125 43

In hereditary angioedema with normal C1-inhibitor two different missense mutations of codon p.Thr328* in the coagulation factor 12 gene have been reported in some families. In this study a novel factor 12 gene mutation, the deletion of 72 base pairs (bp) (c.971_1018+24del72*), was identified in a family of Turkish origin, in two sisters with recurrent skin swellings and abdominal pain attacks and in their symptom-free father. This deletion caused a loss of 48 bp of exon 9 (coding amino acids 324* to 340*) in addition to 24 bp of intron 9, including the authentic donor splice site of exon 9. The large deletion of 72 bp was located in the same F12 gene region as the missense mutations p.Thr328Lys* and p.Thr328Arg* reported previously. Our findings confirm the association between F12 gene mutations modifying the proline-rich region of the FXII protein and hereditary angioedema with normal C1-inhibitor.
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PMID:A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor. 2184 58

Hereditary angioedema is a relatively rare genetic disorder affecting between one in 10,000 and one in 50,000 individuals worldwide. The most common clinical symptoms observed are relapsing swelling of the skin and abdominal pain attacks. However, more serious and potentially fatal laryngeal attacks can also occur. Hereditary angioedema is most frequently caused by a deficiency of C1-inhibitor. Replacement therapy with Berinert, an intravenous pasteurized C1-inhibitor concentrate derived from human plasma, is a recommended treatment for rapid resolution of acute attacks of hereditary angioedema due to C1-inhibitor deficiency. Prophylactic therapy with C1-inhibitor is also available. Future advances may improve morbidity and mortality associated with hereditary angioedema.
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PMID:Human pasteurized C1-inhibitor concentrate for the treatment of hereditary angioedema due to C1-inhibitor deficiency. 2201 12

Hereditary angioedema (HAE) is a rare inherited disorder of complement factor C1 inhibitor. In 2007 there were over 2000 HAE-related emergency department (ED) visits, nearly one-half of which culminated in a hospitalization. This study examines epidemiology and outcomes of hospital ED visits among HAE patients. We evaluated epidemiology, resource use, and discharge destinations of HAE (International Classification of Diseases, Version 9, clinical modification [ICD-9-CM] code 277.6) ED visits within the Nationwide Emergency Department Sample, part of Agency for Healthcare Research and Quality Healthcare Costs and Utilization Project, in 2006 and 2007. In 2006-2007, there were 5040 ED visits with HAE, of which 2705 (53.7%) had HAE as the principal diagnosis (HAE-PD). The mean age for all HAE visits was 38.2 years, and women accounted for 56.5% of all HAE visits. When HAE was not the primary reason for the visit, abdominal pain was the most prevalent (10%) presenting diagnosis. Two thousand fifty-nine (40.9%) resulted in a hospitalization. Although of all HAE ED visits that did not require a hospitalization, the vast majority was discharged routinely home, further care either at a skilled nursing facility or at home was required after 45 (0.9%) of all the HAE visits and 10 (0.4%) of the HAE-PD visits. Mean HAE ED visits costs were $1479 (95% confidence interval, $1028-1929). HAE ED visit volume is substantial. Although likely representing a fraction of the entire HAE population, prevention and acute treatment strategies aimed at those at risk for frequent exacerbations and disproportionate resource use need to be examined.
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PMID:Descriptive epidemiology of hereditary angioedema emergency department visits in the United States, 2006-2007. 2219 93

Hereditary angioedema is a rare disorder, and patients frequently endure long duration of symptoms, frequent physician visits, and unnecessary procedures prior to a diagnosis. Patients with novel mutations may experience especially long delays in diagnosis due to a lack of family history. This case demonstrates one such case in which diagnosis was delayed for many years. Improved physician awareness of the signs and symptoms of hereditary angioedema may prevent such delay for patients with this disorder in the future. Abdominal pain, angioedema, bradykinin, C1 inhibitor, hereditary, inherited, swelling.
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PMID:Recurrent attacks of hereditary angioedema: a case of delayed diagnosis. 2219 58

Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder associated with a deficiency in C1 inhibitor. More than 200 mutations in this gene, located on chromosome 11, have been identified. Although HAE is often inherited, 20-25% of cases are from new spontaneous mutations and they have no family history of swelling. Decreased C1 inhibitor activity leads to inappropriate activation of multiple pathways, including the complement and contact systems and the fibrinolysis and coagulation systems. Reduced C1 inhibitor activity results in increased activation of plasma kallikrein-kinin system proteases and increased bradykinin levels. Bradykinin is felt to be the main mediator of symptoms in HAE. Patients with HAE have recurrent episodes of swelling of the extremities, abdomen, face, and upper airway. Angioedema involving the gastrointestinal tract can lead to intestinal wall edema, which results in abdominal pain, nausea, vomiting, and diarrhea. Laryngeal swelling is life-threatening and may lead to asphyxia. Common triggers of an attack include trauma, stress, infection, menstruation, oral contraceptives, hormone replacement therapy, and angiotensin-converting enzyme inhibitors. Laboratory testing including C4, C1 inhibitor level, and function is needed to confirm or rule out the diagnosis of HAE. The treatment of HAE has improved significantly in recent years with the availability of several safe and effective therapies. Several consensus guidelines have been created to further assist in the management of HAE patients. This review will provide an update on the classification, pathophysiology, clinical presentation, and diagnosis of HAE.
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PMID:Hereditary angioedema: classification, pathogenesis, and diagnosis. 2222 32

Hereditary angio-oedema due to C1 inhibitor deficiency (HAE-C1-INH) is a rare inherited disorder characterised by recurring and debilitating episodes of cutaneous swelling and abdominal pain and less frequent episodes of laryngeal oedema. Symptom onset is usually in childhood and early adolescence, with earlier disease onset associated with greater disease severity. Although HAE-C1-INH attacks are generally less frequent and less severe in children than in adults, they can cause significant physical and psychological impairment and affect advancement in school. There are often significant delays in the diagnosis of HAE-C1-INH due to its variable clinical presentation and because abdominal symptoms can often mimic other common paediatric gastrointestinal disorders. In recent years, several disease-specific agents have become available for the acute and prophylactic treatment of HAE-C1-INH. Although these treatments have not been evaluated rigorously in controlled clinical trials in children with HAE-C1-INH, paediatric data on efficacy and safety are available for some agents. Early diagnosis and initiation of appropriate therapy in children with HAE-C1-INH can help reduce the burden of this illness in the paediatric population.
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PMID:Angio-oedema due to hereditary C1 inhibitor deficiency in children. 2241 38


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