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    2343 results match your criteria Angioedema Hereditary

    1 OF 47

    Outcomes of long term treatments of type I hereditary angioedema in a Turkish family.
    An Bras Dermatol 2017 Sep-Oct;92(5):655-660
    Dermatovenereology Clinic, Ataturk Training and Research Hospital - Ankara, Turkey.
    Background: Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks.

    Objective: We aimed to investigate the clinical and genetic features of a family with angioedema attacks.

    Methods: The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes of long-term treatments were described. Read More

    Genetic Determinants of C1 Inhibitor Deficiency Angioedema Age of Onset.
    Int Arch Allergy Immunol 2017 Nov 9. Epub 2017 Nov 9.
    Department of Immunology and Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece.
    Background: In view of the large heterogeneity in the clinical presentation of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), great efforts are being made towards detecting measurable biological determinants of disease severity that can help to improve the management of the disease. Considering the central role that plasma kallikrein plays in bradykinin production, we investigated the contribution of the functional polymorphism KLKB1-428G/A to the disease phenotype.

    Methods: We studied 249 C1-INH-HAE patients from 114 European families, and we explored possible associations of C1-INH-HAE clinical features with carriage of KLKB1-428G/A, combined or not with that of the functional F12-46C/T polymorphism. Read More

    Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families.
    J Allergy Clin Immunol Pract 2017 Nov 8. Epub 2017 Nov 8.
    Division of Clinical Immunology, Faculdade de Medicina ABC, Santo André, SP, Brazil. Electronic address:
    Background: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare condition with clinical features similar to those of HAE with C1-INH deficiency. Mutations in the F12 gene have been identified in subsets of patients with HAE with normal C1-INH, mostly within families of European descent.

    Objectives: Our aim was to describe clinical characteristics observed in Brazilians from 42 families with HAE and F12 gene mutations (FXII-HAE), and to compare these findings with those from other populations. Read More

    Pharmacotherapy for Angiotensin-Converting Enzyme Inhibitor-Induced Angioedema: A Systematic Review.
    Otolaryngol Head Neck Surg 2017 Nov 1:194599817737974. Epub 2017 Nov 1.
    1 Department of Otolaryngology-Head and Neck Surgery, School of Medicine, Tulane University, New Orleans, Louisiana, USA.
    Objective Angioedema is a potentially life-threatening complication of angiotensin-converting enzyme inhibitor (ACEI) use, occurring in up to 0.5% of users. Although the pathophysiology of ACEI-induced angioedema is attributable to elevated serum bradykinin, standard management typically includes corticosteroids and antihistamines. Read More

    Hereditary angioedema: Assessing the hypothesis for underlying autonomic dysfunction.
    PLoS One 2017 6;12(11):e0187110. Epub 2017 Nov 6.
    Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.
    Background: Attacks of Hereditary Angioedema due to C1-inhibitor deficiency (C1-INH-HAE)are often triggered by stressful events/hormonal changes.

    Objective: Our study evaluates the relationship between autonomic nervous system (ANS) and contact/complement system activation.

    Methods: Twenty-three HAE patients (6 males, mean age 47. Read More

    Comparison of the Frequency of Angioedema Attack, before and during Pregnancy, in a Patient with Type I Hereditary Angioedema.
    Intern Med 2017 Nov 1. Epub 2017 Nov 1.
    Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Japan.
    The patient was a 38-year-old Japanese woman who had been diagnosed with hereditary angioedema type I at 7 years of age based on her family history. She had undergone four pregnancies. She gave birth to a healthy baby girl after her first pregnancy and had reported few episodes of angioedema. Read More

    Clinical Features of Hereditary and Mast Cell-mediated Angioedema Focusing on the Differential Diagnosis in Japanese Patients.
    Intern Med 2017 Nov 1. Epub 2017 Nov 1.
    Medical Corporation SHOWAKAI, Japan.
    Background The present study was designed to identify the clinical characteristics that permit the differential diagnosis of hereditary angioedema (HAE) and mast cell-mediated angioedema (Mast-AE) during the first consultation. Methods The medical histories and laboratory data of 46 patients with HAE and 41 patients with Mast-AE were compared. Results The average age of onset in the HAE group (19. Read More

    Multiple doses of icatibant used during pregnancy.
    Allergy Rhinol (Providence) 2017 Oct;8(3):178-181
    Background: Hereditary angioedema (HAE) is a life-long disease that often manifests by puberty. Treatment of attacks is essential to improve quality of life and to decrease morbidity and mortality. During pregnancy, treatment is limited because multiple treatment options, including icatibant, are not approved for use during pregnancy. Read More

    Pathogenesis of Drug Induced Non-Allergic Angioedema: A Review of Unusual Etiologies.
    Cureus 2017 Aug 23;9(8):e1598. Epub 2017 Aug 23.
    Internal Medicine, Pramukhswami Medical College, Anand,Gujarat.
    Angioedema is the swelling of mucosal and sub-mucosal tissue. Typically, it manifests as the swelling of the face, lips, and tongue. Angioedema can be severe and life threatening when it involves the respiratory tract. Read More

    Endocan: A Novel Marker of Endothelial Dysfunction in C1-Inhibitor-Deficient Hereditary Angioedema.
    Int Arch Allergy Immunol 2017 24;174(2):104-107. Epub 2017 Oct 24.
    Immunology and Allergy Unit, Yedikule Education and Training Hospital, Istanbul University, Istanbul, Turkey.
    Background: Hereditary angioedema (HAE) related to C1-inhibitor deficiency is a rare autosomal dominant disorder. Vascular cell adhesion molecules (VCAM) are known as endothelial activation markers. Endocan (also called ESM-1) is proposed as an endothelial dysfunction indicator. Read More

    Health-related quality of life in Danish children with hereditary angioedema.
    Allergy Asthma Proc 2017 Nov;38(6):440-446
    Background: The potentially life-threatening disease hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) can have considerable impact on the health-related quality of life (HRQoL) in adult patients. Half the patients with C1-INH-HAE develop symptoms before the age of 10 years. However, the HRQoL in children with C1-INH-HAE is almost unexplored. Read More

    An open-label study to evaluate the long-term safety and efficacy of lanadelumab for prevention of attacks in hereditary angioedema: design of the HELP study extension.
    Clin Transl Allergy 2017 6;7:36. Epub 2017 Oct 6.
    Division of Clinical Immunology and Allergy, Department of Medicine, Icahn School of Medicine at Mount Sinai, 5 East 98th Street 11th Floor, New York, NY 10029 USA.
    Background: Hereditary angioedema (HAE) is characterized by recurrent attacks of subcutaneous or submucosal edema. Attacks are unpredictable, debilitating, and have a significant impact on quality of life. Patients may be prescribed prophylactic therapy to prevent angioedema attacks. Read More

    Angiotensin-converting enzyme inhibitor-induced angioedema: A review of the literature.
    J Clin Hypertens (Greenwich) 2017 Oct 10. Epub 2017 Oct 10.
    Department of Medicine, Division of Allergy, Immunology and Infectious Diseases, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
    According to the National Health and Nutrition Examination Survey 2012, one third of antihypertensive prescriptions in the United States in the past decade were for angiotensin-converting enzyme inhibitors (ACEIs). An important and serious side effect of ACEIs is angioedema caused by a reduction in bradykinin degradation. In a national medical chart abstraction study conducted at the US Veterans Affairs Health Care System in 2008, 0. Read More

    Complete kinetic follow-up of symptoms and complement parameters during a hereditary angioedema attack.
    Allergy 2017 Oct 7. Epub 2017 Oct 7.
    Research Laboratory, 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
    We studied the kinetics of C1-inhibitor (C1-INH) and other complement parameters in a self-limited edematous attack (EA) in a patient with hereditary angioedema due to C1-INH deficiency to better understand the pathomechanism of the evolution, course, and complete resolution of EAs. C1-INH concentration and functional activity (C1-INHc+f ), C1(q,r,s), C3, C4, C3a, C4a, C5a, and SC5b-9 levels were measured in blood samples obtained during the 96-hour observation period. The highest C1-INHc+f , C4, and C1(q,r,s) levels were measured at baseline, and their continuous decrease was observed during the entire observation period. Read More

    Factor XII-Driven Inflammatory Reactions with Implications for Anaphylaxis.
    Front Immunol 2017 15;8:1115. Epub 2017 Sep 15.
    Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
    Anaphylaxis is a life-threatening allergic reaction. It is triggered by the release of pro-inflammatory cytokines and mediators from mast cells and basophils in response to immunologic or non-immunologic mechanisms. Mediators that are released upon mast cell activation include the highly sulfated polysaccharide and inorganic polymer heparin and polyphosphate (polyP), respectively. Read More

    An ABC of the Warning Signs of Hereditary Angioedema.
    Int Arch Allergy Immunol 2017 27;174(1):1-6. Epub 2017 Sep 27.
    Faculdade de Medicina ABC, Santo Andre, Brazil.
    Hereditary angioedema (HAE) with C1 inhibitor deficiency is a genetic disorder that clinically manifests with attacks of angioedema in the subcutaneous and submucosal tissues, mainly in the extremities, abdomen, and upper airway. During attacks, vascular permeability is increased due to increased bradykinin (BK). This means that special therapies are needed for attacks that do not respond to traditional antiallergic therapies involving antihistamines, corticosteroids, and epinephrine. Read More

    Novel Therapies for Angiotensin-Converting Enzyme Inhibitor-Induced Angioedema: A Systematic Review of Current Evidence.
    J Emerg Med 2017 Nov 20;53(5):662-679. Epub 2017 Sep 20.
    Department of Pharmacy, Erlanger Health System, Chattanooga, Tennessee.
    Background: Angiotensin-converting enzyme inhibitor (ACEI)-induced angioedema can occur at any point during therapy and, when severe, can require mechanical ventilation. Standard agents for anaphylactic reactions have limited efficacy for bradykinin-mediated angioedema and, therefore, agents approved for hereditary angioedema are increasingly prescribed for these patients.

    Objective Of The Review: This systematic review critically evaluates evidence describing the off-label use of fresh frozen plasma (FFP), prothrombin complex concentrate (PCC), complement 1 esterase inhibitor (C1-INH), icatibant, and ecallantide for treatment of ACEI-induced angioedema. Read More

    Recombinant human C1 esterase inhibitor for acute hereditary angioedema attacks with upper airway involvement.
    Allergy Asthma Proc 2017 Nov 13;38(6):462-466. Epub 2017 Sep 13.
    Background: Recombinant human C1 esterase inhibitor (rhC1-INH) is approved for treatment of hereditary angioedema (HAE) in adolescents and adults. HAE attacks that involve the upper airway can be life threatening, and data on the administration of rhC1-INH for these types of attacks are currently limited.

    Objective: To evaluate the efficacy and safety of rhC1-INH for treatment of acute HAE attacks with upper airway involvement. Read More

    Efficacy of recombinant human C1 esterase inhibitor for the treatment of severe hereditary angioedema attacks.
    Allergy Asthma Proc 2017 Nov 5;38(6):456-461. Epub 2017 Sep 5.
    Background: Severe attacks of hereditary angioedema (HAE) are debilitating and potentially life threatening, and can increase anxiety and the use of medical resources.

    Objective: This post hoc assessment evaluated recombinant human C1 esterase inhibitor (rhC1-INH) used to treat acute severe HAE attacks.

    Methods: In a double-blind, randomized-controlled trial (RCT), patients with an HAE attack (baseline visual analog scale score of ≥50 mm, with severe attacks defined as ≥75 mm) were randomly assigned to receive rhC1-INH (50 IU/kg for patients who weighed <84 kg; 4200 IU for patients who weighed ≥84 kg) or placebo. Read More

    Health-related quality of life in relation to disease activity in adults with hereditary angioedema in Sweden.
    Allergy Asthma Proc 2017 Nov 30;38(6):447-455. Epub 2017 Aug 30.
    Background: Health-related quality of life (HR-QoL) is impaired in patients with hereditary angioedema (HAE) but has not yet been satisfactorily described.

    Objective: To study HR-QoL in patients with HAE by combining different HR-QoL instruments with disease activity assessment.

    Methods: All adults in the Swedish HAE registry were invited to take part in this questionnaire study, which used the generic HR-QoL instruments, EuroQol 5 Dimensions 5 Level (EQ-5D-5L) and the RAND Corporation Short Form 36 (RAND-36), the disease-specific Angioedema Quality of Life instrument (AE-QoL), the recently introduced Angioedema Activity Score (AAS) form, and questionnaires on sick leave and prophylactic medication. Read More

    Treatment of hereditary angioedema due to C1 inhibitor deficiency in Argentina.
    Medicina (B Aires) 2017 ;77(4):279-282
    Unidad de Alergia, Asma e Inmunología Clínica, Buenos Aires, Argentina.
    The benefits of the worldwide approval of new drugs for the treatment of acute C1-INH-HAE attacks may still not reach all patients. Identifying the current barriers in the access to medication, as well as conducting a detailed assessment of the progress in this area, is essential to achieve universal treatment. Two hundred and twenty five patients registered in the Argentina Hereditary Angioedema Patient Association (AHAEPA) were randomly selected and invited to participate in a web based questionnaire on accessibility to icatibant and pdC1-INH, self-treatment, delay to treatment, and coverage. Read More

    Dtsch Arztebl Int 2017 Jul;114(29-30):489-496
    Department of Otorhinolaryngology, Ulm University Hospital; Department of Anaesthesiology, Ulm University Hospital.
    Background: Acute angioedema of the upper airways can be life-threatening. An important distinction is drawn between mast-cell-mediated angioedema and bradykinin-mediated angioedema; the treatment of these two entities is fundamentally different.

    Methods: This review is based on pertinent articles retrieved by a selective search in PubMed and on guidelines concerning the treatment of angioedema. Read More

    Hereditary angioedema with a mutation in the plasminogen gene.
    Allergy 2017 Aug 10. Epub 2017 Aug 10.
    Department of Medical Psychology and Medical Sociology, Johannes Gutenberg University, Mainz, Germany.
    Background: Hereditary angioedema (HAE) with normal C1-INH (HAEnCI) may be linked to specific mutations in the coagulation factor 12 (FXII) gene (HAE-FXII) or functional mutations in other genes that are still unknown. We sought to identify and characterize a hitherto unknown type of HAE with normal C1-INH and without mutation in the F12 gene.

    Methods: The study comprised analysis of whole-exome sequencing, Sanger sequencing, and clinical data of patients. Read More

    Pediatric Angioedema.
    Curr Allergy Asthma Rep 2017 Aug 8;17(9):60. Epub 2017 Aug 8.
    Department of Pediatrics, Division of Allergy & Immunology, The University of Tennessee Health Science Center, 51 North Dunlap, Suite 400, Memphis, TN, 38105, USA.
    Purpose Of Review: The aims of this study are to update the clinician on current understanding of angioedema as it presents in the pediatric population and to review proper diagnostic techniques and treatment modalities for various types of angioedema.

    Recent Findings: Angioedema is still best classified by whether it is likely histaminergic or kinin-mediated. New guidelines have been published around the world to help diagnose and treat both forms (urticaria/angioedema and hereditary angioedema). Read More

    Cleaved kininogen as a biomarker for bradykinin release in hereditary angioedema.
    J Allergy Clin Immunol 2017 Aug 4. Epub 2017 Aug 4.
    Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

    Pediatric hereditary angioedema: an update.
    F1000Res 2017 24;6. Epub 2017 Jul 24.
    Division of Pulmonary, Allergy and Critical Care, Department of Allergy and Immunology, Penn State University, Milton S. Hershey Medical Center, Hershey, PA, USA.
    Hereditary angioedema (HAE) with C1-inhibitor (C1-Inh) deficiency (C1-Inh-HAE) is a rare, life-threatening, and disabling genetic disorder characterized by self-limited tissue swelling caused by deficiency or dysfunction of C1-Inh. Our aim in this update is to discuss new advances in HAE therapy, focusing mainly on the various treatment options that have become available recently and also drugs that are under trial for prophylaxis to prevent attacks. There is a paradigm shift to where the treatment of HAE is headed, focusing now on prophylactic treatment rather than abortive management. Read More

    [Effect of danazol treatment on growth in pediatric patients with hereditary angioedema due to C1-inhibitor deficiency].
    Orv Hetil 2017 Aug;158(32):1269-1276
    III. Belgyógyászati Klinika, Országos Angiooedema Központ, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Kútvölgyi út 4., 1125.
    Introduction: Attenuated androgens are used for the prevention of angioedema attacks of hereditary angioedema with C1-inhibitor deficiency. After prepuberty, their use can lead to growth retardation.

    Aim: We assessed the effect of danazol on the growth of pediatric patients with hereditary angioedema. Read More

    The Complex Interaction Between Polycystic Ovary Syndrome and Hereditary Angioedema: Case Reports and Review of the Literature.
    Obstet Gynecol Surv 2017 Jul;72(7):417-424
    Gynecologist/Obstetrician, Disciplina de Ginecologia; Associate Professor, Disciplina de Ginecologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
    Importance: Hereditary angioedema (HAE) is a rare but severe disease, with high risk of death, and attacks have been associated to high estrogen levels. Polycystic ovary syndrome (PCOS) is a common hyperandrogenic condition, which is frequently treated with combined oral contraceptives.

    Objective: The aim of this study was to describe 2 clinical cases of young women diagnosed as having PCOS who developed HAE attacks after the introduction of combined estrogen-progestin pills to treat PCOS symptoms. Read More

    The relationship between anxiety and quality of life in children with hereditary angioedema.
    Pediatr Allergy Immunol 2017 Nov 11;28(7):692-698. Epub 2017 Aug 11.
    Occupational Therapy Department, Faculty of Social Welfare and Health Sciences, University of Haifa, Haifa, Israel.
    Background: The severe life-threatening characteristics of hereditary angioedema (HAE) with C1-inhibitor deficiency (C1-INH-HAE) can affect anxiety levels among pediatric patients. This emotional burden together with the physical restrictions of C1-INH-HAE may decrease children's health-related quality of life (HRQoL).

    Objectives: (i) To compare anxiety state and trait between children with C1-INH-HAE and healthy controls; (ii) to examine the relationship between the level of anxiety of children with C1-INH-HAE, their disease activity/affected sites and their HRQoL; and (iii) to predict the HRQoL of children with C1-INH-HAE based on their anxiety level and disease activity/affected sites METHODS: Thirty-three children with C1-INH-HAE (aged 5-18 years) and 52 healthy controls were recruited from Israel and Hungary. Read More

    Breakthrough attacks in patients with hereditary angioedema receiving long-term prophylaxis are responsive to icatibant: findings from the Icatibant Outcome Survey.
    Allergy Asthma Clin Immunol 2017 5;13:31. Epub 2017 Jul 5.
    Shire, Zählerweg 10, 6300 Zug, Switzerland.
    Background: Patients with hereditary angioedema (HAE) due to C1-inhibitor deficiency (C1-INH-HAE) experience recurrent attacks of cutaneous or submucosal edema that may be frequent and severe; prophylactic treatments can be prescribed to prevent attacks. However, despite the use of long-term prophylaxis (LTP), breakthrough attacks are known to occur. We used data from the Icatibant Outcome Survey (IOS) to evaluate the characteristics of breakthrough attacks and the effectiveness of icatibant as a treatment option. Read More

    Pharmacoeconomics of Orphan Disease Treatment with a Focus on Hereditary Angioedema.
    Immunol Allergy Clin North Am 2017 Aug 13;37(3):617-628. Epub 2017 May 13.
    Internal Medicine/Allergy/Immunology Division, University of Texas Southwestern Medical School, Dallas, TX, USA; AARA Research Associates, Private Practice, 10100 North Central Expressway, Suite 100, Dallas, TX 75231, USA. Electronic address:
    This article discusses orphan diseases, their prevalence, legislative incentives to encourage development of therapies, and the impact of treatment on health care payment systems. Specifically, the cost burden of hereditary angioedema on patients, health care systems, and society is reviewed. The impact of availability of and access to novel and specific therapies on morbidity, mortality, and overall burden of disease is explored. Read More

    Burden of Illness and Quality-of-Life Measures in Angioedema Conditions.
    Immunol Allergy Clin North Am 2017 Aug;37(3):597-616
    Allergy Department, Hospital Universitario Severo Ochoa, Avenida de Orellana s/n, Leganés, Madrid 28911, Spain.
    Burden of illness studies and evaluation of health-related quality of life using validated questionnaires have become an important task in the comprehensive management of angioedema conditions, mainly angioedema associated with chronic spontaneous urticaria and hereditary angioedema caused by C1-inhibitor deficiency. A review of the principal tools and studies is presented. Both diseases present a higher proportion of psychiatric disorders, impair work and studies productivity, and produce high direct and indirect costs. Read More

    Emerging Therapies in Hereditary Angioedema.
    Immunol Allergy Clin North Am 2017 Aug;37(3):585-595
    Division of Rheumatology, Department of Medicine, Allergy & Immunology, University of California San Diego, 8899 University City Lane, Suite 230, San Diego, CA 92122, USA.
    Remarkable progress has been made in the treatment of bradykinin-mediated angioedema with the advent of multiple new therapies. Patients now have effective medications available for prophylaxis and treatment of acute attacks. However, hereditary angioedema is a burdensome disease that can lead to debilitating and dangerous angioedema episodes associated with significant costs for individuals and society. Read More

    Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment.
    Immunol Allergy Clin North Am 2017 Aug;37(3):571-584
    Department of Dermatology and Allergy, Allergie-Centrum-Charité/ECARF, Charité - Universitätsmedizin Berlin, Charitéplatz 1, Berlin 10117, Germany.
    A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients with the new form of HAE, C1-INH plasma levels and function values are normal, so it's termed HAE with normal C1-INH (HAE-nC1). Read More

    Prophylactic Therapy for Hereditary Angioedema.
    Immunol Allergy Clin North Am 2017 Aug;37(3):557-570
    Department of Immunology, Barts Health NHS Trust, Pathology and Pharmacy Building, 80 Newark Street, London E1 2HS, UK.
    Long-term prophylaxis is needed in many patients with hereditary angioedema and poses many challenges. Attenuated androgens are effective in many but are limited by side effect profiles. There is less evidence for efficacy of tranexamic acid and progestagens; however, the small side effect profile makes tranexamic acid an option for prophylaxis in children and progestagens an option for women. Read More

    Acute Management of Hereditary Angioedema Attacks.
    Immunol Allergy Clin North Am 2017 Aug 23;37(3):541-556. Epub 2017 May 23.
    Immunology and Allergy Unit, Department of Medicine, Campbelltown Hospital, Therry Road, Campbelltown, Sydney, New South Wales 2560, Australia. Electronic address:
    Several treatment modalities have become available for management of acute hereditary angioedema (HAE) attacks in the last 15 years. Most are now available to patients in North America, Europe, United Kingdom, and Australia, but few options exist in developing countries. Preferred contemporary use of the treatments to be discussed is "on demand," because control remains with the patient and delays in treatment access avoided. Read More

    Laboratory Approaches for Assessing Contact System Activation.
    Immunol Allergy Clin North Am 2017 Aug;37(3):527-539
    Department of Medicine, University of California, 9500 Gilman Drive, Mailcode 0732, La Jolla, CA 92093, USA; San Diego Veterans Administration Healthcare System, Medicine Service, 3350 La Jolla Village Drive, San Diego, CA 92161, USA. Electronic address:
    Hereditary angioedema (HAE) is a rare autosomal dominant disease clinically characterized by recurrent, often unpredictable attacks of subcutaneous and mucosal swelling. Acute episodes are debilitating, painful, disfiguring, and potentially fatal. HAE type I and type II result from a deficiency in the plasma level of functional C1 inhibitor. Read More

    Pathogenesis of Hereditary Angioedema: The Role of the Bradykinin-Forming Cascade.
    Immunol Allergy Clin North Am 2017 Aug;37(3):513-525
    Department of Biochemistry and Molecular Biology, Medical University of South Carolina, 173 Ashley Avenue, Charleston, SC 29425, USA.
    Hereditary angioedema (HAE) is an autosomal-dominant disorder owing to mutations in the C1 inhibitor gene. Type I is characterized by a low C1 inhibitor protein level and diminished functional activity, whereas type II has a normal (or elevated) protein level but diminished function. When functional levels drop beyond 40% of normal, attacks of swelling are likely to occur due to overproduction of bradykinin. Read More

    The Clinical Evaluation of Angioedema.
    Immunol Allergy Clin North Am 2017 Aug;37(3):449-466
    Division of Clinical Immunology and Allergy, St. Michael's Hospital, 30 Bond Street, Toronto, ON M5B 1W8, Canada. Electronic address:
    The clinical evaluation of angioedema is reliant on obtaining a thorough patient and family history with an assessment of risk factors and presenting symptoms unique to each subtype. It is important to distinguish between angioedema with and without urticaria as a primary step in the evaluation; thereafter, laboratory parameters and investigations allow for subsequent stratification. There is a significant disease burden associated with angioedema and thus it is essential for health care practitioners to establish a prompt and accurate diagnosis, and a comprehensive care plan that addresses the patient's physical and mental well-being alike. Read More

    Patient satisfaction and experience with intravenously administered C1-inhibitor concentrates in the United States.
    Ann Allergy Asthma Immunol 2017 Jul;119(1):59-64
    CSL Behring, King of Prussia, Pennsylvania.
    Background: Hereditary angioedema (HAE) is a rare genetic disorder with substantial morbidity and mortality. Despite expanded choices for effective acute treatment, prophylactic options are more limited. Intravenous C1 esterase inhibitor (C1-INH[IV]) is licensed and used to prevent HAE symptoms. Read More

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