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Hereditary angioedema

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https://www.readbyqxmd.com/read/27913306/effect-of-bradykinin-receptor-antagonism-on-ace-inhibitor-associated-angioedema
#1
Brittany T Straka, Claudia E Ramirez, James B Byrd, Elizabeth Stone, Alencia Woodard-Grice, Hui Nian, Chang Yu, Aleena Banerji, Nancy J Brown
BACKGROUND: The B2 receptor antagonist icatibant is approved for treatment of attacks of hereditary angioedema. Icatibant has been reported to decrease time-to-resolution of angiotensin-converting enzyme (ACE) inhibitor-associated angioedema in one study of European patients. METHODS: Patients with ACE inhibitor-associated angioedema (defined as swelling of lips, tongue, pharynx or face during ACE inhibitor use and no swelling in the absence of ACE inhibitor use) were enrolled at Vanderbilt University Medical Center from October 2007 through September 2015 and at Massachusetts General Hospital in 2012...
November 29, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27905115/treatment-for-hereditary-angioedema-with-normal-c1-inh-and-specific-mutations-in-the-f12-gene-hae-fxii
#2
K Bork, K Wulff, G Witzke, J Hardt
Hereditary angioedema with normal C1 esterase inhibitor and mutations in the F12 gene (HAE-FXII) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. It occurs nearly exclusively in women. We report our experience treating HAE-FXII with discontinuation of potential trigger factors and drug therapies. The study included 72 patients with HAE-FXII. Potential triggers included estrogen-containing oral contraceptives (eOC), hormonal replacement therapy, or angiotensin-converting enzyme inhibitors...
November 6, 2016: Allergy
https://www.readbyqxmd.com/read/27878882/tamoxifen-may-cause-life-threatening-angioedema-attacks-in-patients-with-hereditary-angioedema
#3
K Bork, K Wulff, G Witzke, S Rietz, J Hardt
Tamoxifen had been described as a triggering factor for hereditary angioedema (HAE) due to C1 inhibitor (C1-INH) deficiency (HAE-C1-INH).(1, 2) We report on a patient with HAE and normal C1-INH and a further patient with HAE-C1-INH with a life-threatening exacerbation due to tamoxifen. Patient 1: A now 73 year-old woman had a family history negative for angioedema. She reported 3 lip swellings during the second and third trimester of her second pregnancy at age 23. This article is protected by copyright. All rights reserved...
November 23, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27873761/hereditary-angioedema-hae-a-cause-for-recurrent-abdominal-pain
#4
Parita Soni, Vivek Kumar, Samson Alliu, Vijay Shetty
A 44-year-old Hispanic woman presented to the emergency room with a 2-day history of sudden onset of severe cramping left lower quadrant abdominal pain associated with ∼20 episodes diarrhoea. Abdominal CT scan exhibited bowel wall oedema and acute extensive colitis. On the basis of the preliminary diagnosis of acute abdomen, the patient was admitted under the surgical team and treated for acute colitis. Since her family history was significant for hereditary angioedema (HAE), complement studies were performed which revealed low complement C4 levels and abnormally low values of C1q esterase inhibitor...
November 14, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27871580/c1-esterase-inhibitor-for-short-term-prophylaxis-in-a-patient-with-hereditary-angioedema-with-normal-c1-inhibitor-function
#5
Savio K H Yu, Jeannie Callum, Asim Alam
Hereditary angioedema with normal C1-esterase inhibitor (HAE-nC1INH) perioperative is a rare condition which could have potential disastrous ramifications for the anesthesiologist in the perioperative period. However, there is limited evidence and/or guidelines on the optimal way to manage these patients. We present the case of a patient with HAE-nC1INH who was successfully managed in the perioperative period with plasma derived C1-esterase inhibitor (pdC1INH). A 29-year-old woman with a diagnosis of HAE-nC1INH presented to the preoperative consultation in preparation for an upcoming total thyroidectomy...
December 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27865714/short-term-prophylactic-use-of-c1-inhibitor-concentrate-in-hereditary-angioedema-findings-from-an-international-patient-registry
#6
Markus Magerl, Michael Frank, William Lumry, Jonathan Bernstein, Paula Busse, Timothy Craig, Inmaculada Martinez-Saguer, Marc A Riedl, Ralph Shapiro, Jonathan Edelman, Debora Williams-Herman, Daniel N Wood, Henrike Feuersenger, Mikhail Rojavin
No abstract text is available yet for this article.
November 16, 2016: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/27864873/hereditary-haemorrhagic-telangiectasia-to-transplant-or-not-to-transplant-is-there-a-right-time-for-liver-transplantation
#7
Yannick D Muller, Roland Oppliger, Romain Breguet, Philippe Meyer, Laura Rubbia-Brandt, Pierre-Auguste Petignat, Thomas Harr, Eric Dayer, Jörg D Seebach
BACKGROUND & AIMS: Hereditary haemorrhagic telangiectasia is characterized by arterio-venous malformations (AVM). It frequently involves the liver without clinical symptoms, but may lead to biliary ischaemia, portal hypertension, or fatal high-output heart failure. The indication of liver transplantation is controversial. METHODS: Herein, we report the case of a 65-year-old female patient with a 'double Osler syndrome' consisting of hereditary haemorrhagic telangiectasia (HHT) and type I hereditary angioedema diagnosed at the age of 25 and 22 years respectively...
December 2016: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/27864871/hereditary-haemorrhagic-telangiectasia-to-transplant-or-not-to-transplant
#8
Carlo Sabbà
The Association of hereditary hemorrhagic telangiectasia (HHT) and type I hereditary angioedema is a very rare condition in medicine. The case reported by Muller et al., describes the coexistence of the two diseases and emphasizes the need for listing HHT patients for liver transplantation in case indications occurs, such as the presence of HCC, abnormally increased cardiac output, and gastrointestinal bleeding as reported for this case. The case described by Mueller et al. is anecdotal for the usefulness of liver transplantation in HHT patients and shows that liver transplantation may be the best supportive care and, sometimes, the unique and final therapeutic option for these patients...
December 2016: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/27837046/c1-esterase-inhibitor-berinert-for-ace-inhibitor-induced-angioedema-two-case-reports
#9
Maria Leibfried, Alexandra Kovary
OBJECTIVE: To describe 2 cases of angiotensin-converting enzyme inhibitor (ACEI)-induced angioedema treated with C1 esterase inhibitor (human) [Berinert]. SUMMARY: Case 1 is a 60-year-old Caucasian male with angioedema from lisinopril. He was initially treated with a conventional regimen of an antihistamine, methylprednisolone, epinephrine, and fresh frozen plasma. When symptoms did not resolve, intravenous C1 peptide esterase inhibitor (C1INH) was administered, with clinical improvement...
November 11, 2016: Journal of Pharmacy Practice
https://www.readbyqxmd.com/read/27826968/a-case-of-type-2-hereditary-angioedema-with-serping1-mutation
#10
Da Woon Sim, Kyung Hee Park, Jae Hyun Lee, Jung Won Park
Hereditary angioedema is a disease of congenital deficiency or functional defect in the C1 esterase inhibitor (C1-INH) consequent to mutation in the SERPING1 gene, which encodes C1-INH. This disease manifests as recurrent, non-pitting, non-pruritic subcutaneous, or submucosal edema as well as an erythematous rash in some cases. These symptoms result from the uncontrolled localized production of bradykinin. The most commonly affected sites are the extremities, face, gastrointestinal tract, and respiratory system...
January 2017: Allergy, Asthma & Immunology Research
https://www.readbyqxmd.com/read/27826093/cytokine-and-estrogen-stimulation-of-endothelial-cells-augment-activation-of-the-prekallikrein-high-molecular-weight-kininogen-complex-implications-for-hereditary-angioedema-hae
#11
Kusumam Joseph, Baby G Tholanikunnel, Allen P Kaplan
BACKGROUND: When the prekallikrein-high molecular weight kininogen complex is bound to endothelial cells, prekallikrein is stoichiometrically converted to kallikrein due to release of heat shock protein-90 (Hsp90). While bradykinin formation is typically initiated by factor XII autoactivation it is also possible to activate factor XII either by kallikrein, thus formed, or plasmin. RATIONALE: Since attacks of hereditary angioedema can be related to infection and/or exposure to estrogen, we questioned whether estrogen or cytokine stimulation of endothelial cells could augment release of Hsp90 and prekallikrein activation...
November 5, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27818136/subcutaneous-icatibant-for-the-treatment-of-hereditary-angioedema-attacks-comparison-of-home-self-administration-with-administration-at-a-medical-facility
#12
Iris M Otani, William R Lumry, Shelley Hurwitz, Huamin Henry Li, Timothy J Craig, Niki S Holtzman, Matthew I Iandoli, Julie Tucker, Marc A Riedl, Bruce L Zuraw, Aleena Banerji
BACKGROUND: Hereditary angioedema (HAE) is a life-threatening disorder characterized by recurrent angioedema. Icatibant, a subcutaneous bradykinin-B2-receptor antagonist, is an effective on-demand therapy. Data outside the United States suggest that self-administration is tolerated and patient-preferred compared with administration by health care professionals at medical facilities (HCP-administration). OBJECTIVE: A prospective, multicenter study was conducted in the United States to compare icatibant self-administration and HCP-administration...
November 3, 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/27818099/how-dextran-sulfate-affects-c1-inhibitor-activity-a-model-for-polysaccharide-potentiation
#13
Madelon Dijk, Jolande Holkers, Patrick Voskamp, Bruno M Giannetti, Willem-Jan Waterreus, Harrie A van Veen, Navraj S Pannu
C1-inhibitor is a key inhibitor of the complement and contact activation systems, and mutations in the protein can cause hereditary angioedema. Through an unknown mechanism, polysaccharides can increase C1-inhibitor activity against some of its target proteases. Here we present the crystal structures of the serine protease inhibitor (serpin) domain of active C1-inhibitor by itself and in complex with dextran sulfate. Unlike previously described interactions of serpins with polysaccharides, the structures and isothermal titration calorimetry experiments together reveal that dextran sulfate binds to C1-inhibitor's F1 helix with low affinity and does not invoke an allosteric change...
October 28, 2016: Structure
https://www.readbyqxmd.com/read/27795218/-angioedema
#14
Luisa Holguín-Gómez, Luz Adriana Vásquez-Ochoa, Ricardo Cardona
Angioedema is defined as edema of the skin or mucosa, including the respiratory and the gastrointestinal mucosa, which is self-limiting, and in most cases is completely resolved in less than 72 hours. It occurs due to increased permeability of the mucosal and submucosal capillaries and postcapillary venules, with resulting plasma extravasation. There are different types of angioedema: histaminergic (which may be mediated by immunoglobulin E), hereditary, from acquired C1 inhibitor deficiency, from angiotensin converting enzyme inhibitor, bradykinin-mediated, and non-histaminergic idiopathic angioedema...
October 2016: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/27788882/hereditary-angioedema-with-f12-mutation-clinical-features-and-enzyme-polymorphisms-in-9-southwestern-spanish-families
#15
Macarena Piñero-Saavedra, Teresa González-Quevedo, Blanca Saenz de San Pedro, Cristina Alcaraz, Pedro Bobadilla-González, Lourdes Fernández-Vieira, Belén Hinojosa, Raúl García-Lozano
BACKGROUND: Information on F12 mutation hereditary angioedema (HAE) is still limited, but Spain is now recognized as having one of the highest concentrations of cases in Western Europe. OBJECTIVE: To describe unique features of HAE in Spanish carriers of the F12 mutation and investigate a potential role for angiotensin-converting enzyme (ACE) and aminopeptidase-P polymorphisms in disease expression. METHODS: This was a prospective observational cohort study of 35 individuals (80% females) from 9 unrelated families carrying the p...
November 2016: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/27788880/assessment-of-inhibitory-antibodies-in-patients-with-hereditary-angioedema-treated-with-plasma-derived-c1-inhibitor
#16
Henriette Farkas, Lilian Varga, Dumitru Moldovan, Krystyna Obtulowicz, Todor Shirov, Thomas Machnig, Henrike Feuersenger, Jonathan Edelman, Debora Williams-Herman, Mikhail Rojavin
BACKGROUND: Limited data are available regarding C1 inhibitor (C1-INH) administration and anti-C1-INH antibodies. OBJECTIVE: To assess the incidence of antibody formation during treatment with pasteurized, nanofiltered plasma-derived C1-INH (pnfC1-INH) in patients with hereditary angioedema with C1-INH deficiency (C1-INH-HAE) and the comparative efficacy of pnfC1-INH in patients with and without antibodies. METHODS: In this multicenter, open-label study, patients with C1-INH-HAE (≥12 years of age) were given 20 IU/kg of pnfC1-INH per HAE attack that required treatment and followed up for 9 months...
November 2016: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/27783665/regulation-of-complement-and-contact-system-activation-via-c1-inhibitor-potentiation-and-factor-xiia-activity-modulation-by-sulfated-glycans-structure-activity-relationships
#17
Ann-Kathrin Schoenfeld, Eric Lahrsen, Susanne Alban
The serpin C1 inhibitor (C1-INH) is the only regulator of classical complement activation as well as the major regulator of the contact system. Its importance is demonstrated by hereditary angioedema (HAE), a severe disease with potentially life-threatening attacks due to deficiency or dysfunction of C1-INH. C1-INH replacement is the therapy of choice in HAE. In addition, C1-INH showed to have beneficial effects in other diseases characterized by inappropriate complement and contact system activation. Due to some limitations of its clinical application, there is a need for improving the efficacy of therapeutically applied C1-INH or to enhance the activity of endogenous C1-INH...
2016: PloS One
https://www.readbyqxmd.com/read/27742086/misdiagnosis-trends-in-patients-with-hereditary-angioedema-from-the-real-world-clinical-setting
#18
Andrea Zanichelli, Hilary J Longhurst, Marcus Maurer, Laurence Bouillet, Werner Aberer, Vincent Fabien, Irmgard Andresen, Teresa Caballero
BACKGROUND: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) causes swelling in the skin and upper airways and pain in the abdomen because of mucosal swelling. C1-INH-HAE is frequently misdiagnosed, leading to delays in diagnosis, inadequate treatment, and unnecessary procedures. OBJECTIVE: To evaluate the history of misdiagnosis in patients participating in the Icatibant Outcome Survey (IOS). METHODS: The IOS is an observational study in which safety and effectiveness of icatibant have been evaluated since 2009...
October 2016: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/27725554/hereditary-angioedema-with-recurrent-abdominal-pain-in-a-patient-with-a-novel-mutation
#19
Hiromasa Yakushiji, Arito Kaji, Keitarou Suzuki, Motohiro Yamada, Takahiko Horiuchi, Masahiro Sinozaki
We describe a patient with hereditary angioedema type I. The patient had experienced recurrent abdominal pain around the time of her menstrual period for 13 years. A laboratory examination showed reduced functional and antigenic levels of C4 and C1 inhibitor (C1-INH). To establish a diagnosis, we carried out a DNA analysis of the patient's C1-INH gene. We determined that the patient was heterozygous for a single base pair transposition of T to C at nucleotide 4429 in exon 4, which had not been reported in the literature...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27717414/overview-of-laboratory-testing-and-clinical-presentations-of-complement-deficiencies-and-dysregulation
#20
A Frazer-Abel, L Sepiashvili, M M Mbughuni, M A V Willrich
Historically, complement disorders have been attributed to immunodeficiency associated with severe or frequent infection. More recently, however, complement has been recognized for its role in inflammation, autoimmune disorders, and vision loss. This paradigm shift requires a fundamental change in how complement testing is performed and interpreted. Here, we provide an overview of the complement pathways and summarize recent literature related to hereditary and acquired angioedema, infectious diseases, autoimmunity, and age-related macular degeneration...
2016: Advances in Clinical Chemistry
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