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Thomas Buttgereit, Lauré M Fijen, Carolina Vera, Karl-Christian Bergmann, Marcus Maurer, Markus Magerl
Hereditary angiodema with normal C1 inhibitor and unknown mutation (HAE-nC1INH-UNK), an exceedingly rare subtype of HAE, appears to be often diagnosed in patients who do not have this condition, but have mast cell-mediated angioedema. Here, we report two patients diagnosed with HAE-nC1INH-UNK by their physicians, who referred them to our center for treatment continuation with costly kallikrein-kinin-system targeted therapies. We describe how we established the correct diagnosis of recurrent mast cell-mediated angioedema after thorough investigation of both patients and initiated effective treatment with omalizumab...
2022: Frontiers in Medicine
#2
JOURNAL ARTICLE
Daniel Muíño-Domínguez, Lorena Carballo-Folgoso, Luis Martínez Camblor, Marta García Calonge, Maria Helena González Sánchez, Isabel Pérez-Martínez, Ruth de Francisco, Sabino Riestra
Recurrent abdominal pain is a common reason for consultation in Gastroenterology. The differential diagnosis includes hereditary angioedema (HAE), a rare disorder characterized by recurrent episodes of angioedema, without urticaria or pruritus, which most often affects the skin, but also mucosal tissues of the gastrointestinal tract, triggered by diverse factors such as infections, trauma, surgery, drugs, or stress. It is a disease with a difficult diagnosis due to its heterogeneous and transitory clinical features, so having a clinical suspicion in the appropriate context would allow the administration of a specific treatment and avoid unnecessary examinations...
September 30, 2022: Revista Española de Enfermedades Digestivas
#3
REVIEW
Jonathan A Bernstein
Hereditary angioedema (HAE) is a rare disorder, characterized by intermittent attacks of swelling in any part of the body, without the presence of hives. This lifelong disease typically presents in the first 2 decades of life, and is commonly associated with a deficiency in functional C1 esterase inhibitor (C1-INH) activity. C1-INH levels may be decreased or normal, with an accompanied decrease in functionality, depending on the type of HAE present. The frequency and severity of attacks are highly variable among patients with HAE, but can have a significant impact on a patient's quality of life, and may be fatal if not properly managed...
August 2018: American Journal of Managed Care
#4
JOURNAL ARTICLE
Kate Waldon, Sophy Kathleen Barber, Richard James Spencer
BACKGROUND: Hereditary angiodema (HAE), also known as C1 esterase inhibitor deficiency, causes sufferers to experience episodic subcutaneous and submucosal oedema. These episodes can be triggered by dental treatment and manifest as life-threatening oedematous swelling in the head and neck region. CASE REPORT: This case report reviews an adolescent with hereditary angiodema whose malocclusion required orthodontic intervention. Due to her complex and unpredictable reaction to dental treatment, various options were explored before determining the appropriate care pathway for this patient...
May 2015: International Journal of Paediatric Dentistry
#5
EDITORIAL
Konrad Bork
Hereditary angioedema (HAE) through C1 inhibitor deficiency is a rare but important disease. It is characterized by recurrent episodes of angioedema, which commonly affects the skin (in the form of swelling in the extremities, face and genitals) as well as the gastrointestinal tract (abdominal pain attacks). In approximately 1% of cases of angiodema-related swelling, there is obstruction of the upper airway, which is potentially life-threatening. Therefore, HAE due to C1 inhibitor deficiency may be associated with significant morbidity and mortality...
July 2014: Expert Opinion on Investigational Drugs
#6
REVIEW
Jenny Björkqvist, Anna Sala-Cunill, Thomas Renné
Edema is tissue swelling and is a common symptom in a variety of diseases. Edema form due to accumulation of fluids, either through reduced drainage or increased vascular permeability. There are multiple vascular signalling pathways that regulate vessel permeability. An important mediator that increases vascular leak is the peptide hormone bradykinin, which is the principal agent in the swelling disorder hereditary angioedema. The disease is autosomal dominant inherited and presents clinically with recurrent episodes of acute swelling that can be life-threatening involving the skin, the oropharyngeal, laryngeal, and gastrointestinal mucosa...
March 2013: Thrombosis and Haemostasis
#7
JOURNAL ARTICLE
Michael Lunn, Erin Banta
Hereditary angioedema (HAE) is a clinical disorder characterized by a deficiency of C1 esterase inhibitor (C1-INH). HAE has traditionally been divided into two subtypes. Unique among the inherited deficiencies of the complement system, HAE Types I and II are inherited as an autosomal dominant disorder. The generation of an HAE attack is caused by the depletion and/or consumption of C1-inhibitor manifested as subcutaneous or submucosal edema of the upper airway, face, extremities, or gastrointestinal tract mediated by bradykinin...
2011: Clinical Medicine Insights. Cardiology
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JOURNAL ARTICLE
Anthony M Szema
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...
July 2010: Allergy and Asthma Proceedings:
#9
REVIEW
Tom Bowen, Marco Cicardi, Konrad Bork, Bruce Zuraw, Mike Frank, Bruce Ritchie, Henriette Farkas, Lilian Varga, Lorenza C Zingale, Karen Binkley, Eric Wagner, Peggy Adomaitis, Kristylea Brosz, Jeanne Burnham, Richard Warrington, Chrystyna Kalicinsky, Sean Mace, Christine McCusker, Robert Schellenberg, Lucia Celeste, Jacques Hebert, Karen Valentine, Man-Chiu Poon, Bazir Serushago, Doris Neurath, William Yang, Gina Lacuesta, Andrew Issekutz, Azza Hamed, Palinder Kamra, John Dean, Amin Kanani, Donald Stark, Georges-Etienne Rivard, Eric Leith, Ellie Tsai, Susan Waserman, Paul K Keith, David Page, Silvia Marchesin, Hilary J Longhurst, Wolfhart Kreuz, Eva Rusicke, Inmaculada Martinez-Saguer, Emel Aygören-Pürsün, George Harmat, George Füst, Henry Li, Laurence Bouillet, Teresa Caballero, Dumitru Moldovan, Peter J Späth, Sara Smith-Foltz, Istvan Nagy, Erik W Nielsen, Christoph Bucher, Patrik Nordenfelt, Zhi Yu Xiang
BACKGROUND: We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency) in 2004. OBJECTIVE: To ensure that this consensus remains current. METHODS: In collaboration with the Canadian Network of Rare Blood Disorder Organizations, we held the second Canadian Consensus discussion with our international colleagues in Toronto, Ontario, on February 3, 2006, and reviewed its content at the Fifth C1 Inhibitor Deficiency Workshop in Budapest on June 2, 2007...
January 2008: Annals of Allergy, Asthma & Immunology
#10
REVIEW
Michael M Frank
OBJECTIVE: To provide a comprehensive overview on clinical trial design and results of emerging therapies for the treatment of hereditary angioedema (HAE). DATA SOURCES: MEDLINE or PubMed literature searches were conducted to identify double-blind, placebo-controlled trials investigating C1 esterase replacement, kallikrein inhibitor, and bradykinin receptor 2 antagonist therapies. STUDY SELECTION: Ongoing trials or those just recently completed from all companies developing a product for the treatment of HAE are discussed...
January 2008: Annals of Allergy, Asthma & Immunology
#11
JOURNAL ARTICLE
Bruce L Zuraw
OBJECTIVE: To provide a context to understand the opportunity for novel therapeutic modalities to transform the treatment of hereditary angioedema (HAE). DATA SOURCES: MEDLINE and PubMed were searched to identify studies involving current treatment of HAE in the United States. STUDY SELECTION: Studies were selected based on their relevance to the treatment of HAE. RESULTS: The current HAE treatment strategy is far from satisfactory, and its limitations create an unmet clinical need...
January 2008: Annals of Allergy, Asthma & Immunology
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JOURNAL ARTICLE
L Bouillet, D Ponard, C Drouet, C Massot
PURPOSE: Nonallergic isolated angioedema is an uncommon clinical syndrome raising difficult diagnosis and therapeutic problems. Occurrences linked to a C1Inh are the predominant ones and have to be examined as a priority, taking into account the specificity of the associated follow-up. CURRENT KNOWLEDGE AND KEY POINTS: Diseases with a clinical profile close to hereditary angioneurotic edema, but without C1Inh anomaly, have been described recently. It is in fact family cases, concerning only women, where estrogens seem to play a dominant role...
June 2002: La Revue de Médecine Interne
#13
JOURNAL ARTICLE
M Cugno, C E Hack, J P de Boer, A J Eerenberg, A Agostoni, M Cicardi
Hereditary angioedema is caused by a genetic deficiency of C1-inhibitor, a serine protease inhibitor that regulates activation of complement, contact, and fibrinolytic systems. Symptoms (bouts of subcutaneous and mucous swelling) depend on the release of a vasoactive mediator, probably through activation of these three systems. We studied the interrelationship among complement, contact, and fibrinolytic activation in 23 patients with hereditary angiodema, 18 during remission and five during an attack, by measuring plasma levels of C1-C1 inhibitor, factor XIIa-C1 inhibitor, kallikrein-C1 inhibitor, and plasmin-alpha 2-antiplasmin complexes, tissue plasminogen activator, and urokinase plasminogen activator...
January 1993: Journal of Laboratory and Clinical Medicine
#14
JOURNAL ARTICLE
L Bergamaschini, M Cicardi, A Tucci, A Agostoni
During agarose electrophoresis C4 in the normal human serum is converted into cleavage products of Beta 1 and Beta 2 mobility. By contrast in the serum of untreated patients with hereditary angiodema C4 gives only one Beta 2 peak on crossed immunoelectrophoresis. The normal C4 electrophoretic pattern is restored in serum of patients treated with stanazolol but not with danazol despite the same C1-esterase inhibitor (C1 INH) activities and C4 serum concentration. We suggest that stanazolol besides having specific effect on C1 INH activity can interfere with other protease inhibitors affecting C1 activation...
July 1982: Journal of Clinical Pathology
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JOURNAL ARTICLE
C W Pruet, A D Kornblut, C Brickman, M A Kaliner, M M Frank
Angiodema can be frequently encountered in clinical practice, and usually represents transient areas of tissue edema and erythema. In general, lesions involve the deep dermis as well as subcutaneous or submucosal sites and can affect multiple organ systems, including the respiratory and gastrointestinal tracts. Although the underlying cause for the angioedema is frequently not known, it can result from atopy, specific antigen sensitivities, physical stimuli, as well as disorders that affect the complement cascade...
June 1983: Laryngoscope
#16
JOURNAL ARTICLE
G W Brasher, J C Starr, F F Hall, A M Spiekerman
Complement component analysis is valuable for differentiating the various types of angioedema. Patients with hereditary angioedema have decreased levels of C1 esterase inhibitor and C4 in the presence of normal amounts of C3 and C1q. Acquired C1 esterase inhibitor deficiency secondary to malignant disease is also manifested by depressed C1 esterase inhibitor and C4, but decreased C1q levels distinguish it from hereditary angioedema. Normal values for these complement components are found in persons with allergic angioedema...
September 1975: Archives of Dermatology
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