Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042109 (urticaria)
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Hereditary angioedema is a rare genetic disorder resulting from an inherited deficiency or dysfunction of the C1-esterase inhibitor of the classic complement pathway. It is characterised by recurrent episodes of angioedema, without urticaria or pruritus, most often affecting the skin or the mucosal tissues of the upper respiratory and gastrointestinal tracts. We describe the peri-operative care of a woman with hereditary angioedema undergoing laparoscopic cholecystectomy with emphasis on the role of anaesthetists as peri-operative physicians.
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PMID:Peri-operative management of a patient with hereditary angioedema undergoing laparoscopic cholecystectomy. 1984 75

Hereditary angioedema (HAE) is caused by a deficiency in C1 esterase inhibitor and is characterized by sudden attacks of edema associated with discomfort and pain. The disease places patients at risk for disability and death if left untreated. Symptom severity and frequency can be extremely variable even among affected members of the same family. Attacks are not associated with inflammation or allergy, with most occurring secondary to trauma or stress. Swelling can affect any part of the body or multiple sites at once. Commonly affected areas include the extremities, genitalia, trunk, gastrointestinal tract, face, and larynx. Swelling typically worsens over 24 to 36 hours and resolves within 48 hours in less severe cases. Attacks result in 15,000 to 30,000 emergency department visits each year. Many of these emergency cases will undergo unnecessary surgeries or medical procedures due to misdiagnosis. The hallmarks of HAE--recurrent episodes of swelling without urticaria, a family history of HAE, first attack in childhood, and worsening at puberty--can be identified by a thorough family history, and the diagnosis can be confirmed by laboratory studies. Nevertheless, diagnosis may be delayed by 2 decades. We review available therapies and clinical characteristics that will both help clinicians diagnose HAE and distinguish among emergencies and nonemergency cases.
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PMID:Clinical review of hereditary angioedema: diagnosis and management. 1994 Apr 22

Hereditary angioedema (HAE) is an inherited disorder characterized by recurrent, circumscribed, non-pitting, non-pruritic, and rather painful subepithelial swelling of sudden onset, which fades during the course of 48-72 hours, but can persist for up to 1 week. Lesions can be solitary or multiple, and primarily involve the extremities, larynx, face, esophagus, and bowel wall. Patients with HAE experience angioedema because of a defective control of the plasma kinin-forming cascade that is activated through contact with negatively charged endothelial macromolecules leading to binding and auto-activation of coagulation factor XII, activation of prekallikrein to kallikrein by factor XIIa, and cleavage of high-molecular-weight kininogen by kallikrein to release the highly potent vasodilator bradykinin. Three forms of HAE have currently been described. Type I and type II HAE are rare autosomal dominant diseases due to mutations in the C1-inhibitor gene (SERPING1). C1-inhibitor mutations that cause type I HAE occur throughout the gene and result in truncated or misfolded proteins with a deficiency in the levels of antigenic and functional C1-inhibitor. Mutations that cause type II HAE generally involve exon 8 at or adjacent to the active site, resulting in an antigenically intact but dysfunctional mutant protein. In contrast, type III HAE (also called estrogen-dependent HAE) is characterized by normal C1-inhibitor activity. The diagnosis of HAE is suggested by a positive family history, the absence of accompanying pruritus or urticaria, the presence of recurrent gastrointestinal attacks of colic, and episodes of laryngeal edema. Estrogens may exacerbate attacks, and in some patients attacks are precipitated by trauma, inflammation, or psychological stress. For type I and type II HAE, diminished C4 concentrations are highly suggestive for the diagnosis. Further laboratory diagnosis depends on demonstrating a deficiency of C1-inhibitor antigen (type I) in most kindreds, but some kindreds have an antigenically intact but dysfunctional protein (type II) and require a functional assay to establish the diagnosis. There are no particular laboratory findings in type III HAE. Prophylactic administration of either 17alpha-alkylated androgens or synthetic antifibrinolytic agents has proven useful in reducing the frequency or severity of attacks. Plasma-derived C1-inhibitor concentrate, recombinant C1-inhibitor, ecallantide (DX88; a plasma kallikrein inhibitor) and icatibant (a bradykinin B(2) receptor antagonist) have demonstrated significant efficacy in the treatment of acute attacks, whereas the C1-inhibitor concentrate has also provided a significant benefit as long-term prophylaxis. However, these drugs are not licensed in all countries and are not always readily available.
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PMID:Hereditary angioedema in childhood: an approach to management. 2059 9

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 characterized by sudden attacks of deep tissue swelling caused by C1 inhibitor deficiency. Swelling severity can vary from mild to severe, and some patients are at risk for disability and death from either asphyxiation or hypovolemic shock. Many HAE attacks are precipitated by trauma or stress. The extremities, genitalia, trunk, bowels, face, and larynx are commonly affected areas, but swelling can affect any single part of the body or multiple sites. Symptoms typically worsen over 24 to 36 hours and resolve within 48 hours. Because many symptoms of HAE overlap with those of other medical conditions, diagnosis may be delayed. A thorough family history can identify the signature symptoms of HAE, which include a family history of HAE, recurrent edema without urticaria, and symptomatic worsening during puberty. The author presents two hypothetical cases of HAE and reviews the clinical hallmarks of this condition, diagnostic tests, and available treatments.
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PMID:Diagnosis and management of hereditary angioedema. 2125 14

Hereditary angioedema (HAE) is a rare genetic disorder characterized by unpredictable, episodic, incapacitating attacks of well-demarcated angioedema in the absence of urticaria and pruritus. HAE is due to deficient or dysfunctional C1-esterase inhibitor activity, which results in unopposed activation of plasma kallikrein, resulting in increased levels of bradykinin. Ecallantide is a potent and specific plasma kallikrein inhibitor approved for the treatment of acute attacks of HAE affecting any anatomic site. In Phase III clinical trials, subcutaneously administered ecallantide demonstrated significant, rapid and durable symptom relief. Ecallantide was effective for all attack types, including potentially life-threatening laryngeal attacks. The main safety concern is potentially serious hypersensitivity reactions, including anaphylaxis. Ecallantide represents an important treatment option for the management of acute attacks of HAE.
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PMID:Prospective, double-blind, placebo-controlled trials of ecallantide for acute attacks of hereditary angioedema. 2214 37

Urticaria (hives) is a common disorder that often presents with angioedema (swelling that occurs beneath the skin). It is generally classified as acute, chronic or physical. Second-generation, non-sedating H1-receptor antihistamines represent the mainstay of therapy for both acute and chronic urticaria. Angioedema can occur in the absence of urticaria, with angiotensin-converting enzyme (ACE) inhibitor-induced angioedema and idiopathic angioedema being the more common causes. Rarer causes are hereditary angioedema (HAE) or acquired angioedema (AAE). Although the angioedema associated with these disorders is often self-limited, laryngeal involvement can lead to fatal asphyxiation in some cases. The management of HAE and AAE involves both prophylactic strategies to prevent attacks of angioedema (i.e., trigger avoidance, attenuated androgens, tranexamic acid, and plasma-derived C1 inhibitor replacement therapy) as well as pharmacological interventions for the treatment of acute attacks (i.e., C1 inhibitor replacement therapy, ecallantide and icatibant). In this article, the authors review the causes, diagnosis and management of urticaria (with or without angioedema) as well as the work-up and management of isolated angioedema, which vary considerably from that of angioedema that occurs in the presence of urticaria.
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PMID:Urticaria and angioedema. 2216 55

Conditions causing angioedema can be loosely classified as those with underlying C1-inhibitor deficiency or dysfunction and those that do not. Determining the root cause of symptoms and ruling out conditions that masquerade as angioedema help clinicians plan appropriate management. The various etiologies of angioedema have overlapping symptoms that can complicate the diagnosis. An awareness of features unique to a specific cause of angioedema will aid in the differential diagnosis. A thorough history may reveal a family history of episodic swelling, bouts of swelling associated with medication use, or swelling associated with certain foods or environmental allergens. Similarly, a history of symptom onset later in life is more common in acquired angioedema. The presence of urticaria suggests an allergic component. Treatment strategies have been devised for all forms of angioedema, although specific therapeutic targets may be unknown. Several medications directed at the underlying cause of symptoms in hereditary angioedema have been recently approved for use in the United States. Clinical symptoms, differential diagnosis, and management strategies for angioedema are reviewed in this article.
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PMID:Angioedema: differential diagnosis and treatment. 2219 55

The causes of angioedema (AE), a self-limited, localized swelling of subcutaneous tissue or mucosa unaccompanied by urticaria, are diverse. The commonly applied label of "allergic" is frequently wrong and standard anti-allergic therapy can be ineffective. Types of AE could be categorized according to mediators which mediate vascular leakage: bradykinin AE (hereditary, acquired, angiotensin-converting enzyme inhibitor (ACEi)-related), histamine AE (allergic etiology), and various mediators mediated AE (pseudoallergic reaction to non-steroidal anti-inflammatory drugs). Idiopathic AE is a poorly understood syndrome. The growing relevance of AE without urticaria has been highlighted; angioedema is the most common cause of hospital admission among all acute allergic diseases. The diagnosis of AE is based on the presence of family history (hereditary), absence of family history with the onset during or after the fourth decade of life (acquired C1lnh deficiency), and treatment with ACEi (ACEi-related angioedema). About 0.1%-0.7% of patients taking ACEi develop angioedema as a well-documented but still frequently unrecognized side effect of drugs. Laboratory diagnosis is enabled by measuring serum levels of C1lnh antigen or C1lnh function. Type 1 (hereditary angioedema (HAE) was diagnosed when both antigenic and functional levels of C1lnh were below 50% of normal, and type 2 when functional levels of C1lnh were low, along with antigenic levels normal or higher. ACEi-related AE is diagnosed when AE recurs during therapy and disappears upon withdrawal. Symptoms may appear several years after therapy introduction. Severe acute attacks should be treated with C1lnh concentrate and icatibant, a selective and specific antagonist of bradykinin B2 receptors. Prophylaxis with attenuated androgens (danazol, stanazolol, oxandrolone) is effective in preventing symptom development.
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PMID:[Increasing incidence of angioedema without urticaria--clinical features]. 2235 77

Hereditary angioedema (HAE), a rare autosomal dominant disorder, was first described in the late 19th century. The disease remained poorly understood and without therapeutic options until the latter half of the 20th century. Advances in the understanding of immunologic and hematologic pathways have shed light on HAE, a disease characterized by painful and unpredictable recurrent attacks of nonpitting edema without urticaria. Recognition that a deficiency of complement component 1 (C1) esterase inhibitor leads to overproduction of vasoactive kinins that cause angioedema paved the way for the development of early treatments. Increased understanding of the role of bradykinin in hereditary and acquired forms of C1 esterase inhibitor deficiency has led to the development of more targeted treatments for this painful, debilitating and potentially life-threatening disease.
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PMID:Hereditary and acquired complement component 1 esterase inhibitor deficiency: a review for the hematologist. 2245 31


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