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    1 OF 48

    [Acquired C1 esterase inhibitor deficiency via bradykinin-mediated angioedema: Four cases].
    Ann Dermatol Venereol 2018 Apr 16. Epub 2018 Apr 16.
    Dermatologie, CHRU Minjoz, 3, boulevard Alexandre-Fleming, 25030 Besançon, France.
    Background: Acquired C1-esterase inhibitor (C1-INH) deficiency angioedema (C1-INH-AAE) is a form of bradykinin-mediated angioedema. This rare disorder is due to acquired consumption of C1-INH, hyperactivation of the classic pathway of human complement, and potentially fatal recurrent angioedema symptoms. Clinical symptoms of C1-INH-AAE are very similar to those of hereditary angioedema (HAE) but usually appear after the fourth decade of life and induce abdominal pain less frequently. Read More

    Hereditary angioedema from the patient's perspective: A follow-up patient survey.
    Allergy Asthma Proc 2018 May;39(3):212-223
    Department of Medicine, University of California San Diego, La Jolla, California.
    Background: We conducted our first patient survey at the 2013 hereditary angioedema (HAE) patient summit and learned that, despite several novel therapies, the burden of disease was high.

    Objective: To determine, from the patient's perspective, if any improvements in the current state of HAE care occurred over a two-year period between HAE patient summits.

    Methods: A patient survey was conducted at the 2015 Hereditary Angioedema Association conference by using paper surveys that aimed at understanding the current state of HAE care. Read More

    In Vitro Fertilization Using Luteinizing Hormone-Releasing Hormone Injections Resulted in Healthy Triplets without Increased Attack Rates in a Hereditary Angioedema Case.
    Case Reports Immunol 2018 13;2018:2706751. Epub 2018 Feb 13.
    Department of Internal Medicine, Division of Allergy and Clinical Immunology, Ege University Medical Faculty, İzmir, Turkey.
    Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. The management of pregnant patients with C1-INH-HAE is a challenge for the physician. Intravenous plasma-derived nanofiltered C1-INH (pdC1INH) is the only recommended option throughout pregnancy, postpartum, and breastfeeding period. Read More

    Safety, effectiveness, and impact on quality of life of self-administration with plasma-derived nanofiltered C1 inhibitor (Berinert®) in patients with hereditary angioedema: the SABHA study.
    Orphanet J Rare Dis 2018 Apr 10;13(1):51. Epub 2018 Apr 10.
    Allergy Department, Hospital La Paz Institute for Health Research, Madrid, Spain.
    Background: Hereditary angioedema with C1 inhibitor deficiency is a disabling, potentially fatal condition characterized by recurrent episodes of swelling. Self-treatment is recommended, in order to reduce admissions to the Emergency Room and the time between the onset of the attack and the treatment, resulting in a better treatment outcome and an improved quality of life (QoL). The purpose of this study is to assess the safety, tolerability, and effect on QoL of self-administration of pnf C1-INH for IV use (Berinert®). Read More

    Icatibant Outcome Survey in Patients with Hereditary Angioedema: Experience in Israel Compared with Other Countries.
    Isr Med Assoc J 2018 Apr;20(4):227-232
    Shire, Zug, Switzerland.
    Background: Management of patients with hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is evolving worldwide. Evaluating the Israeli experience may provide valuable insights.

    Objectives: To compare demographics and icatibant treatment patterns and outcomes in patients with C1-INH-HAE enrolled in the Icatibant Outcome Survey (IOS) in Israel with those in other countries. Read More

    First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual.
    J Clin Immunol 2018 Apr 5. Epub 2018 Apr 5.
    Programa de Medicina, Facultad de Salud, Universidad Surcolombiana, Calle 9 # 14-02, Neiva, Colombia.
    Hereditary angioedema (HAE) is a heterogeneous genetic disease caused by a deficit in C1 inhibitor (C1-INH) and clinically characterized by sudden events of edema, swelling, and pruritus. Here, we describe the first SERPING1 genotyping in 22 subjects from 4 non-related families, all from southern Colombia. The previously reported heterozygous gene mutations, c. Read More

    The complex alteration in the network of IL-17-type cytokines in patients with hereditary angioedema.
    Clin Exp Med 2018 Apr 6. Epub 2018 Apr 6.
    Dipartimento Immunologia Allergologia, Istituto Medico Europeo (ISME), Palermo, Italy.
    Hereditary angioedema (HAE) is a rare autosomic-dominant disorder characterized by a deficiency of C1 esterase inhibitor which causes episodic swellings of subcutaneous tissues, bowel walls and upper airways that are disabling and potentially life-threatening. We evaluated n = 17 patients with confirmed HAE diagnosis during attack and remission state and n = 19 healthy subjects. The samples were tested for a panel of IL (Interleukin)-17-type cytokines (IL-1β, IL-6, IL-10, granulocyte-macrophage colony stimulating factor (GM-CSF), IL-17, IL-21, IL-22, IL-23) and transforming growth factor-beta (TGF-β) subtypes. Read More

    Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies.
    Front Immunol 2018 21;9:500. Epub 2018 Mar 21.
    Department of Allergology, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana, University Medical Centre Ljubljana, Ljubljana, Slovenia.
    Background: Prevalence of complement deficiencies (CDs) is markedly higher in Slovenian primary immunodeficiency (PID) registry in comparison to other national and international PID registries.

    Objective: The purposes of our study were to confirm CD and define complete and partial CD in registered patients in Slovenia, to evaluate frequency of clinical manifestations, and to assess the risk for characteristic infections separately for subjects with complete and partial CD.

    Methods: CD was confirmed with genetic analyses in patients with C2 deficiency, C8 deficiency, and hereditary angioedema or with repeated functional complement studies and measurement of complement components in other CD. Read More

    Usefulness of C1 esterase inhibitor protein concentrate in the management of hereditary angioedema of oropharyngeal tissue.
    Niger J Clin Pract 2018 Apr;21(4):531-533
    Department of Emergency Medicine, Sisli Hamidiye Etfal Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
    Hereditary angioedema is an autosomal-dominant disorder caused by mutation of the gene encoding the C1 esterase inhibitor (C1-INH). It manifests as painless, nonpruritic, nonpitting episodic swelling of the subcutaneous tissues, gastrointestinal, and upper respiratory tracts in the absence of urticaria. An attack typically takes 24 h to peak and resolves over 48-72 h. Read More

    Effectiveness of icatibant for treatment of hereditary angioedema attacks is not affected by body weight: findings from the Icatibant Outcome Survey, a cohort observational study.
    Clin Transl Allergy 2018 23;8:11. Epub 2018 Mar 23.
    7Shire, Zug, Switzerland.
    Background: Icatibant is a bradykinin B2-receptor antagonist used for the treatment of hereditary angioedema attacks resulting from C1-inhibitor deficiency. Treatment is not adjusted by body weight however the impact of body mass index (BMI) on the effectiveness of icatibant is not documented in the literature. We examined disease characteristics and icatibant treatment effectiveness in patients stratified by BMI in the Icatibant Outcome Survey, an ongoing, international, observational study monitoring the real-world safety and effectiveness of icatibant. Read More

    Optimum Use of Acute Treatments for Hereditary Angioedema: Evidence-Based Expert Consensus.
    Front Med (Lausanne) 2017 12;4:245. Epub 2018 Mar 12.
    Honorary Consultant Immunologist, Department of Clinical Biochemistry and Immunology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
    Acute treatment of hereditary angioedema due to C1 inhibitor deficiency has become available in the last 10 years and has greatly improved patients' quality of life. Two plasma-derived C1 inhibitors (Berinert and Cinryze), a recombinant C1 inhibitor (Ruconest/Conestat alpha), a kallikrein inhibitor (Ecallantide), and a bradykinin B2 receptor inhibitor (Icatibant) are all effective. Durably good response is maintained over repeated treatments and several years. Read More

    Extremely Delayed Diagnosis of Type II Hereditary Angioedema: Case Report and Review of the Literature.
    Mil Med 2018 Mar 26. Epub 2018 Mar 26.
    Department of Allergy and Immunology, Wilford Hall Ambulatory Surgical Center, 2200 Bergquist Drive, Lackland Air Force Base, TX 78236.
    We present a case with extremely late diagnosis of type II hereditary angioedema (HAE). Given recent advances in HAE treatment, we want to bring physician awareness to this condition and aid in earlier detection. HAE is a disorder associated with episodes of angioedema of the face, larynx, lips, abdomen, or extremities. Read More

    C1-esterase inhibitor (Cinryze) use in the treatment of pediatric hereditary angioedema.
    Immunotherapy 2018 Mar 23. Epub 2018 Mar 23.
    ENT and Allergy Associates, Sleepy Hollow, NY, USA.
    Hereditary angioedema (HAE) is a rare genetic disease resulting in unpredictable and potentially life-threatening subcutaneous and submucosal attacks mediated by the vasoactive peptide, bradykinin. HAE often presents within the first or second decade of life, with attacks increasing in both frequency and severity over time. First-line therapies exert their action by replacing C1 inhibitor (C1-INH) or via blocking the production or function of bradykinin. Read More

    [EFFICACY, PHARMACOKINETICS, AND SAFETY OF ICATIBANT FOR THE TREATMENT OF JAPANESE PATIENTS WITH AN ACUTE ATTACK OF HEREDITARY ANGIOEDEMA: A PHASE 3 OPEN-LABEL STUDY].
    Arerugi 2018 ;67(2):139-147
    Internal Medicine Department, Niigata City General Hospital.
    Background: Hereditary angioedema (HAE) is characterized by paroxysmal edema of the skin, gastrointestinal mucosa, and upper respiratory tract.

    Purpose: This study investigated icatibant, a selective bradykinin B2 receptor antagonist, as treatment for Japanese patients with an acute HAE attack.

    Methods: This was an open-label, single-arm, Phase 3 study of Japanese adults with HAE type I or II. Read More

    A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor.
    Biochem Biophys Res Commun 2018 03;498(1):193-198
    Institute for Molecular and Preventive Medicine, Kurfürstenstr. 10, 56068 Koblenz, Germany. Electronic address:
    Hereditary angioedema (HAE) is a genetically heterogeneous disease that is characterized by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The two classic types, HAE types I and II, are both caused by mutations in the complement C1 inhibitor (SERPING1) gene resulting either in a quantitative or a qualitative deficiency of C1 inhibitor. In so-called HAE type III, in contrast, patients show normal C1 inhibitor measurements in plasma ('HAE with normal C1 inhibitor'). Read More

    Hereditary angioedema education in otolaryngology residencies: survey of program directors.
    Int Forum Allergy Rhinol 2018 Mar 15. Epub 2018 Mar 15.
    Department of Otolaryngology-Head and Neck Surgery, West Virginia University School of Medicine, Morgantown, WV.
    Background: The objective of this work was to assess resident education regarding contemporary management of hereditary angioedema using a web-based survey.

    Methods: An 11-item, multiple-choice, electronic questionnaire was sent to all 106 accredited otolaryngology training programs in November 2016. Questions focused on resident education, management principles, and formalized assessment. Read More

    Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype.
    Ann Med 2018 May 15;50(3):269-276. Epub 2018 Mar 15.
    b University Clinic of Respiratory and Allergic Diseases Golnik , Golnik , Slovenia.
    Objective: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare disease, characterized by swellings. We aimed to characterize on a clinical and molecular basis C1-INH-HAE patients in the Republic of Macedonia.

    Results: All 15 patients from six unrelated families were diagnosed with C1-INH-HAE type I, with a mean age of symptom onset of 11 years and an average delay of diagnosis of seven years. Read More

    Hereditary Angioedema: The Economics of Treatment of an Orphan Disease.
    Front Med (Lausanne) 2018 16;5:22. Epub 2018 Feb 16.
    Allergy Division, Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, United States.
    This review will discuss the cost burden of hereditary angioedema on patients, healthcare systems, and society. The impact of availability of and access to novel and specific therapies on morbidity, mortality, and the overall burden of disease will be explored along with potential changes in treatment paradigms to improve effectiveness and reduce cost of treatment. The prevalence of orphan diseases, legislative incentives to encourage development of orphan disease therapies and the impact of orphan disease treatment on healthcare payment systems will be discussed. Read More

    Specialist Advice Support for Management of Severe Hereditary Angioedema Attacks: A Multicenter Cluster-Randomized Controlled Trial.
    Ann Emerg Med 2018 Mar 2. Epub 2018 Mar 2.
    AP-HP, Urgences-Samu 93, hôpital Avicenne, Université Paris 13, Inserm U942, Bobigny, France; Inserm U942.
    Study Objective: Hereditary angioedema is a rare disease associated with unpredictable, recurrent attacks of potentially life-threatening edema. Management of severe attacks is currently suboptimal because emergency medical teams are often unaware of new specific treatments. The objective of this trial is to test whether a dedicated national telephone care-management strategy would reduce resource use during severe hereditary angioedema attacks. Read More

    Coagulation factor XII in thrombosis and inflammation.
    Blood 2018 Feb 26. Epub 2018 Feb 26.
    Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Germany
    Combinations of proinflammatory and procoagulant reactions are the unifying principle for a variety of disorders affecting the cardiovascular system. The factor XII-driven-contact system starts coagulation and inflammatory mechanisms via the intrinsic pathway of coagulation and the bradykinin-producing kallikrein-kinin system, respectively. The biochemistry of the contact system is well understood, however its functions are just beginning to emerge. Read More

    Evaluation of infectious and non-infectious complications in patients with primary immunodeficiency.
    Cent Eur J Immunol 2017 30;42(4):336-341. Epub 2017 Dec 30.
    Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
    Introduction: Primary immunodeficiency diseases (PIDs) are a heterogeneous group of genetic immune disorders. PID patients suffer from a variety of complications. The aim of this study was to determine the infectious and non-infectious complications among PID patients. Read More

    Use of pdC1-INH concentrate for long-term prophylaxis during pregnancy in hereditary angioedema with normal C1-INH.
    J Allergy Clin Immunol Pract 2018 Feb 10. Epub 2018 Feb 10.
    Clinical Immunology and Allergy Division, University of São Paulo, São Paulo, SP, Brazil. Electronic address:

    Plasma Prekallikrein: Its Role in Hereditary Angioedema and Health and Disease.
    Front Med (Lausanne) 2018 25;5. Epub 2018 Jan 25.
    Hematology and Oncology Division, Department of Medicine, University Hospitals Cleveland Medical Center, Case Western Reserve University, Cleveland, OH, United States.
    Plasma prekallikrein (PK) has a critical role in acute attacks of hereditary angioedema (HAE). Unlike C1 inhibitor, its levels fall during HAE attacks with resultant cleaved high-molecular-weight kininogen. Cleavage of high-molecular-weight kininogen liberates bradykinin, the major biologic peptide that promotes the edema. Read More

    Hereditary and Acquired Angioedema: Heterogeneity of Pathogenesis and Clinical Phenotypes.
    Int Arch Allergy Immunol 2018 26;175(3):126-135. Epub 2018 Jan 26.
    Department of Medicine, Division of Allergy and Clinical Immunology, University of Salerno, Baronissi, Italy.
    Recurrent angioedema (AE) without wheals is increasingly recognized as a clinical entity and a frequent cause of admission to the emergency room. The Hereditary Angioedema Working Group (HAWK) classification allowed the scientific community to go beyond the semantic confusion that dominated this topic for decades. This classification distinguishes hereditary and acquired forms of AE, either related or unrelated to C1 inhibitor deficiency. Read More

    Health-Related Quality of Life with Subcutaneous C1-Inhibitor for Prevention of Attacks of Hereditary Angioedema.
    J Allergy Clin Immunol Pract 2018 Jan 31. Epub 2018 Jan 31.
    CSL Behring, King of Prussia, Pa.
    Background: Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) impairs health-related quality of life (HRQoL).

    Objective: The objective of this study was to assess HRQoL outcomes in patients self-administering subcutaneous C1-INH (C1-INH[SC]; HAEGARDA) for routine prevention of HAE attacks.

    Methods: Post hoc analysis of data from the placebo-controlled, crossover phase III COMPACT study (Clinical Studies for Optimal Management of Preventing Angioedema with Low-Volume Subcutaneous C1-Inhibitor Replacement Therapy). Read More

    New Treatments for Hereditary Angioedema.
    Skin Therapy Lett 2018 01;23(1):6-8
    Virginia Tech Carilion School of Medicine, Roanoke, VA, USA; Carilion Clinic Dermatology & Mohs Surgery, Roanoke, VA, USA.
    Hereditary angioedema is characterized by severe, episodic edema of the subcutaneous and mucosal tissue. The disease carries significant morbidity and mortality due to involvement of the gastrointestinal tract and upper airway. Recent advances in the treatment of hereditary angioedema include new techniques used to isolate and purify human-derived C1 inhibitor, the production of a recombinant form of C1 inhibitor, and the development of drugs that target the kallikrein-kinin pathway. Read More

    Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight.
    Sci Rep 2018 Jan 17;8(1):977. Epub 2018 Jan 17.
    "L. Sacco" Department of Biomedical and Clinical Sciences, University of Milan, via GB Grassi 74, 20157, Milan, Italy.
    C1-inhibitor is a serine protease inhibitor (serpin) controlling complement and contact system activation. Gene mutations result in reduced C1-inhibitor functional plasma level causing hereditary angioedema, a life-threatening disorder. Despite a stable defect, the clinical expression of hereditary angioedema is unpredictable, and the molecular mechanism underlying this variability remains undisclosed. Read More

    [Allergology and clinical immunology].
    Rev Med Suisse 2018 Jan;14(588-589):15-18
    Service d'immunologie et d'allergologie, Département des spécialités de médecine, HUG, 1211 Genève 14.
    Hereditary angioedema (HA) is a disabling and potentially fatal condition. The management of HA includes treatment of acute attacks, short-term prophylaxis to prevent an attack, and long-term prophylaxis to minimize the frequency and severity of recurrent attacks. In this article, we will present new therapeutic alternatives for long term prophylaxis. Read More

    The international WAO/EAACI guideline for the management of hereditary angioedema-The 2017 revision and update.
    Allergy 2018 Jan 10. Epub 2018 Jan 10.
    Department of Medicine and Pediatrics, Penn State University, Hershey, PA, USA.
    Hereditary Angioedema (HAE) is a rare and disabling disease. Early diagnosis and appropriate therapy are essential. This update and revision of the global guideline for HAE provides up-to-date consensus recommendations for the management of HAE. Read More

    Exposure-Response Model of Subcutaneous C1-Inhibitor Concentrate to Estimate the Risk of Attacks in Patients With Hereditary Angioedema.
    CPT Pharmacometrics Syst Pharmacol 2018 Mar 9;7(3):158-165. Epub 2018 Jan 9.
    Clinical Pharmacology and Early Development, CSL Limited, Parkville, Australia.
    Subcutaneous C1-inhibitor (HAEGARDA, CSL Behring), is a US Food and Drug Administration (FDA)-approved, highly concentrated formulation of a plasma-derived C1-esterase inhibitor (C1-INH), which, in the phase III Clinical Studies for Optimal Management in Preventing Angioedema with Low-Volume Subcutaneous C1-inhibitor Replacement Therapy (COMPACT) trial, reduced the incidence of hereditary angioedema (HAE) attacks when given prophylactically. Data from the COMPACT trial were used to develop a repeated time-to-event model to characterize the timing and frequency of HAE attacks as a function of C1-INH activity, and then develop an exposure-response model to assess the relationship between C1-INH functional activity levels (C1-INH(f)) and the risk of an attack. The C1-INH(f) values of 33. Read More

    [Vulvar angioedema during pregnancy].
    Ned Tijdschr Geneeskd 2018 ;162(0):D1548
    Deventer Ziekenhuis, Deventer.
    Background: Angioedema is a condition of acute and extensive fluid accumulation in skin or mucosae due to increased blood vessel permeability. Angioedema can have several causes, including pregnancy.

    Case Description: A healthy 33-year-old pregnant woman had acute, substantial swelling of the labia minora with no other symptoms. Read More

    Evaluating satisfaction of patients with hereditary angioedema with their past and present treatments: Implications for future therapies.
    Allergy Asthma Proc 2018 Jan;39(1):74-80
    Background: Ever-expanding armamentarium of treatments for hereditary angioedema (HAE) are associated with various adverse effects, issues with vascular access, or lack of self-administration.

    Objective: To understand patients' impressions and confidence in their past and present treatments, and identifying adverse events while also directly asking patients to reveal their hope for the future of HAE management and treatments.

    Methods: After institutional review board approval, all subjects with laboratory-confirmed HAE were mailed a survey that they completed and returned to the researchers, and data were collected and entered into a secure online web application for surveys. Read More

    Disease Severity, Activity, Impact, and Control and How to Assess Them in Patients with Hereditary Angioedema.
    Front Med (Lausanne) 2017 4;4:212. Epub 2017 Dec 4.
    Department of Dermatology and Allergy, Charité - Universitätsmedizin Berlin, Berlin, Germany.
    Hereditary angioedema (HAE) is a group of rare, potentially life-threatening, and frequently debilitating diseases characterized by recurrent, and often with an unpredictable onset, of swelling attacks. HAE is heterogeneous, with considerable differences between its subtypes, patients, and even within the same patient over time. During the past few years, several new on demand and prophylactic therapies have become available for HAE, allowing for individualized treatment. Read More

    [Hereditary angioedema by C1 inhibitor-deficit: Diagnostic and therapeutic challenges. Case report].
    Rev Alerg Mex 2017 Oct-Dec;64(4):493-498
    Centro de Neumología y Alergias, San Pedro Sula, Cortés, Honduras.
    Background: Hereditary angioedema is a disease which manifests itself with episodes of spontaneous edema on skin, mucosal and airway. Treatment includes acute and prophylactic approach to minimize the attacks and severity. In many parts of the world, androgen derivatives, antifibrinolytic and fresh frozen plasma are the therapies available for prophylaxis. Read More

    Investigational drugs in phase I and phase II clinical trials for hereditary angioedema.
    Expert Opin Investig Drugs 2018 Jan 15;27(1):87-103. Epub 2017 Dec 15.
    a Hungarian Angioedema Center, 3rd Department of Internal Medicine , Semmelweis University , Budapest , Hungary.
    Introduction: Hereditary angioedema (HAE) with C1-inhibitor deficiency (C1-INH-HAE) is a rare bradykinin-mediated disease characterized by recurrent subcutaneous and/or submucosal angioedematous attacks (HAE attacks), which occur unpredictably. The recurrent HAE attacks do not respond to conventional treatments, and may evolve into a life-threatening condition; therefore, special therapy is required. Areas covered: The agents used so far for the acute management of HAE attacks act by blocking the release of bradykinin, or its binding to its receptor. Read More

    Immunological Rare Diseases.
    Adv Exp Med Biol 2017 ;1031:497-509
    Department of Clinical and Biological Sciences, Turin University, Turin, Italy.
    The immune system is delegated to defend the body from attacks from outside or inside. Many diseases can affect immune system reducing its ability to defend self or inducing an abnormal response against external or internal antigens. Rare diseases affecting immune system present some issue in common with other rare diseases and some peculiarities due to the huge variability in the disease's expression. Read More

    Pharmacological Management of Hereditary Angioedema with C1-Inhibitor Deficiency in Pediatric Patients.
    Paediatr Drugs 2018 Apr;20(2):135-151
    3rd Department of Internal Medicine, Hungarian Angioedema Center, Semmelweis University, Kútvölgyi street 4, Budapest, 1125, Hungary.
    Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is a form of bradykinin-mediated angioedema. It is a rare disorder with an onset during childhood in most instances. Therefore, familiarity with the options for the management of pediatric cases is indispensable. Read More

    The Search for Biomarkers in Hereditary Angioedema.
    Front Med (Lausanne) 2017 22;4:206. Epub 2017 Nov 22.
    Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.
    The unpredictable nature of attacks of tissue swelling in hereditary angioedema requires the identification of reliable biomarkers to monitor disease activity as well as response to therapy. At present, one can assess a C4 level (by ELISA) to assist in diagnosis but neither C4 nor C1 inhibitor levels reflect clinical course or prognosis. We will here review a collection of plasma proteins involved in blood coagulation, fibrinolysis, and innate immunity (Figure 1). Read More

    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 9;174(3-4):200-204. 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

    Recurrent ascites: a need to evaluate for hereditary angio-oedema.
    Lancet 2017 Nov;390(10107):2119-2120
    Allergy-Immunology Department, Mureș County Hospital, Târgu Mureș, Romania; University of Medicine and Pharmacy, Târgu Mureș, Romania; Romanian Network for Hereditary Angioedema, Romania.

    Pharmacotherapy for Angiotensin-Converting Enzyme Inhibitor-Induced Angioedema: A Systematic Review.
    Otolaryngol Head Neck Surg 2018 Feb 7;158(2):232-239. Epub 2017 Nov 7.
    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

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