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

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

J Allergy Clin Immunol 2017 Aug 3. Epub 2017 Aug 3.

Department of Clinical Chemistry and Haematology, Germany. Electronic address:

Cleaved high-molecular weight kininogen (cHK) in plasma is a biomarker for bradykinin formation. We developed an immuno-assay to detect cHK in plasma. cHK plasma levels are increased in asymptomatic C1-INH-HAE patients, and increase further during angioedema attacks. Read More

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

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

Clin Gastroenterol Hepatol 2017 Aug 2. Epub 2017 Aug 2.

Department of Gastroenterology, Dietetics and Internal Diseases, Poznan University of Medical Sciences, Poland.

JAMA 2017 Aug;318(5):416

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

Pediatr Allergy Immunol 2017 Jul 10. Epub 2017 Jul 10.

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

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

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

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

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

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

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

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

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

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

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

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

Int Arch Allergy Immunol 2017 30;173(2):114-119. Epub 2017 Jun 30.

Department for Children and Adolescents, Angioedema Centre, University Hospital Frankfurt, Goethe University, Frankfurt, Germany.

Background: Hereditary angioedema (HAE) is a rare genetic disease causing unpredictable and potentially life-threatening subcutaneous and submucosal edematous attacks. Cinryze® (Shire ViroPharma Inc., Lexington, MA, USA), a nanofiltered C1 inhibitor (C1-INH), is approved in Europe for the treatment, preprocedure prevention, and routine prophylaxis of HAE attacks, and for the routine prophylaxis of attacks in the USA. Read More

SAGE Open Med Case Rep 2017 8;5:2050313X17713912. Epub 2017 Jun 8.

Department of Anesthesiology and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Objective: To describe the perioperative management of a patient with acquired angioedema (AAE).

Methods: A 66-year-old Caucasian male presented from an outside hospital with a history of acquired angioedema and gastrointestinal stromal tumor-related intractable urticaria and mastocytosis. He was admitted for urgent laparoscopic partial gastrectomy, secondary to gastric outlet obstruction symptomatology. Read More

Allergy Asthma Clin Immunol 2017 13;13:28. Epub 2017 Jun 13.

Division of Allergy and Clinical Immunology, Department of Medicine, St. Michael's Hospital, Toronto, Canada.

Rationale: Angioedema without co-existent urticaria is due to a limited number of causes, including hereditary and acquired C1 esterase inhibitor deficiency, drug-induced angioedema or idiopathic histaminergic or non-histaminergic angioedema. We describe a cohort of patients with recurrent angioedema whose clinical features and response to medications are distinct from the causes above.

Methods: Patients were accrued retrospectively from an academic allergy practice between 2007 and 2014. Read More

J Allergy Clin Immunol 2017 Jun 8. Epub 2017 Jun 8.

Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy. Electronic address:

Background: Hereditary angioedema (HAE) is a rare genetic disease usually caused by mutation in the C1 inhibitor or the coagulation Factor XII gene. However, in a series of patients with HAE, no causative variants have been described, and the pathophysiology of the disease remains unknown (hereditary angioedema with yet unknown genetic defect [U-HAE]). Identification of causative genes in patients with U-HAE is valuable for understanding the cause of the disease. Read More

J Allergy Clin Immunol Pract 2017 Jun 7. Epub 2017 Jun 7.

Institute for Asthma and Allergy, Chevy Chase, Md.

Background: Clinical manifestations of hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) usually begin in childhood, often intensifying during puberty. Currently there are insufficient efficacy/safety data for HAE therapies in children and adolescents due to the small number of pediatric patients enrolled in studies.

Objective: The objective of this phase 3 study was to evaluate the efficacy/safety of a single subcutaneous dose of icatibant (0. Read More

Mol Immunol 2017 Jun 7. Epub 2017 Jun 7.

3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.

Hereditary angioedema (HAE) is a rare, but potentially life-threatening disorder, characterized by acute, recurring, and self-limiting edematous episodes of the face, extremities, trunk, genitals, upper airways, or the gastrointestinal tract. HAE may be caused by the deficiency of C1-inhibitor (C1-INH-HAE) but another type of the disease, hereditary angioedema with normal C1-INH function (nC1-INH-HAE) was also described. The patient population is quite heterogeneous as regards the location, frequency, and severity of edematous attacks, presenting large intra- and inter-individual variation. Read More

Immunol Lett 2017 May 31. Epub 2017 May 31.

Hungarian Angioedema Center, 3(rd) Department of Internal Medicine, Semmelweis University, Kútvölgyi street 4, Budapest, H-1125, Hungary. Electronic address:

Background: Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. The characteristic episodes of subcutaneous/submucosal edema formation may be preceded by erythema marginatum (EM) - the occurrence of a 'map-like' pattern on the skin. EM can occur as an isolated finding or accompanying a hereditary angiooedema (HAE) attack as well. Read More

J Formos Med Assoc 2017 May 25. Epub 2017 May 25.

Department of Allergy, Immunology and Rheumatology, Mackay Children's Hospital, Taipei, Taiwan.

Ann Allergy Asthma Immunol 2017 Jun 2;118(6):736-737. Epub 2017 May 2.

Allergy Department, Hospital General Universitario Gregorio Marañón, Madrid, Spain; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain; Biomedical Research Network on Rare Diseases (CIBERER) U761, Madrid, Spain.

Ann Allergy Asthma Immunol 2017 Jun 29;118(6):734-735. Epub 2017 Apr 29.

Haemophilia Centre Rhine Main GmbH, Frankfurt-Mörfelden, Germany.

Hand (N Y) 2017 May 7;12(3):NP46-NP50. Epub 2016 Oct 7.

1 Medical College of Wisconsin, Milwaukee, USA.

Background: Compartment syndrome of the upper extremity is a surgical emergency that, when left untreated, can have dire consequences. Its causes are numerous, one of which is the uncommon entity hereditary angioedema, an autosomal dominant disease resulting in edema in a variety of potential locations, including the extremities. This is only the second time hereditary angioedema has been mentioned in the literature as a cause of compartment syndrome. Read More

Allergy Asthma Proc 2017 May;38(3):216-221

Background: Increased estrogen levels during pregnancy can exacerbate hereditary angioedema (HAE), yet disease and treatment ramifications remain poorly studied in pregnant women.

Objective: Data from the international Berinert Patient Registry were used to evaluate outcomes of pregnancies exposed to plasma-derived, pasteurized, nanofiltered C1-inhibitor concentrate (pnfC1-INH) during routine HAE management.

Methods: This observational registry, conducted between 2010 and 2014 at 30 U. Read More

Allergol Int 2017 Apr 19. Epub 2017 Apr 19.

Division of Nephrology, Department of Internal Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan.

Background: Hereditary angioedema (HAE) is an autosomal dominant disease caused by deficiency of C1 esterase inhibitor. Symptoms of HAE include edema, which can potentially cause suffocation. Some patients with HAE exhibit immunological abnormalities, which could prevent an accurate diagnosis. Read More

Clin Biochem 2017 Apr 12. Epub 2017 Apr 12.

Department of Cancer & Inflammation Research, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.

Objectives: Low complement factor C4 is usually considered a valuable screening tool for patients with the potentially life-threatening hereditary angioedema with C1-inhibitor (C1-INH) deficiency (C1-INH-HAE). However, there are patients with C1-INH-HAE presenting with normal C4 levels. This means, that C1-INH-HAE may potentially be overlooked, if screening is performed only by measurement of C4. Read More

Int J Emerg Med 2017 Dec 13;10(1):15. Epub 2017 Apr 13.

Department of Emergency Medicine, University Hospital, Aintree, Liverpool, UK.

Background: Angioedema is a common presentation in the emergency department (ED). Airway angioedema can be fatal; therefore, prompt diagnosis and correct treatment are vital.

Objective Of The Review: Based on the findings of two expert panels attended by international experts in angioedema and emergency medicine, this review aims to provide practical guidance on the diagnosis, differentiation, and management of histamine- and bradykinin-mediated angioedema in the ED. Read More

Allergy Rhinol (Providence) 2017 Mar;8(1):13-19

Background: The plasma-derived, pasteurized, nanofiltered C1-inhibitor concentrate (pnfC1-INH) is approved in the United States as an intravenous (IV) on-demand treatment for hereditary angioedema (HAE) attacks, and, in Europe, as on demand and short-term prophylaxis.

Objective: This analysis evaluated Berinert Patient Registry data regarding IV pnfC1-INH used as long-term prophylaxis (LTP).

Methods: The international registry (2010-2014) collected prospective and retrospective usage, dosing, and safety data on individuals who used pnfC1-INH for any reason. Read More

Pediatr Rheumatol Online J 2017 Apr 5;15(1):19. Epub 2017 Apr 5.

Department of Paediatric Rheumatology and Immunology, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Bld. W30, D-48149, Muenster, Germany.

Background: Systemic autoinflammatory diseases (SAIDs) represent a growing number of monogenic, polygenic or multifactorial disorders that are often difficult to diagnose.

Case Presentation: Here we report a patient who was initially erroneously diagnosed and treated for SAID. Symptoms consisted of recurrent fever, erythematous and/or blistering skin lesions, angioedema, susceptibility to bleeding, external ear infections and reversible anisocoria in the absence of laboratory evidence of systemic inflammation. Read More

Ann Allergy Asthma Immunol 2017 May 1;118(5):631-632. Epub 2017 Apr 1.

University of California-San Francisco, San Francisco, California.

J Eur Acad Dermatol Venereol 2017 Jul 1;31(7):1214-1222. Epub 2017 Jun 1.

Shire, Zug, Switzerland.

Background: Hereditary angioedema (HAE) due to C1-inhibitor deficiency (C1-INH-HAE) is a rare, potentially fatal, bradykinin-mediated disease. Icatibant is a bradykinin B2 receptor antagonist originally approved in 2008 in the European Union and 2011 in the United States as an acute therapy option for HAE attacks in adults.

Objective: To compare demographics, disease characteristics and treatment outcomes of icatibant-treated HAE attacks in patients with C1-INH-HAE enrolled in the Icatibant Outcome Survey across six European countries: Austria, France, Germany, Italy, Spain and the UK. Read More

Semin Thromb Hemost 2017 Mar 27. Epub 2017 Mar 27.

Clinical Chemistry, Department of Molecular Medicine and Surgery, Karolinska Institutet and University Hospital, Stockholm, Sweden.

Contact activation is the surface-induced conversion of factor XII (FXII) zymogen to the serine protease FXIIa. Blood-circulating FXII binds to negatively charged surfaces and this contact to surfaces triggers a conformational change in the zymogen inducing autoactivation. Several surfaces that have the capacity for initiating FXII contact activation have been identified, including misfolded protein aggregates, collagen, nucleic acids, and platelet and microbial polyphosphate. Read More

J Stomatol Oral Maxillofac Surg 2017 Apr 22;118(2):109-114. Epub 2017 Feb 22.

Service d'odontologie, hôpital Saint-Julien, CHU de Rouen, 76031 Rouen, France.

Bradykinin-mediated angioedema (AE) is a rare disease characterized by recurrent cutaneous or mucosal angioedema. This hereditary or acquired disease is of rapid installation, non-pruritic, usually painless and can affect the face, lips, larynx, gastrointestinal tract or extremities. When the affected area involves the upper respiratory tract, laryngeal angioedema can lead to imminent death by asphyxia. Read More

N Engl J Med 2017 03;376(12):1131-1140

From Barts Health NHS Trust (H.L.) and St. John's Institute of Dermatology, Guy's Hospital (C.G.), London, and the Clinical Investigation and Research Unit, Royal Sussex County Hospital, Brighton (M.T.) - all in the United Kingdom; Ospedale Luigi Sacco-U.O. Medicina Generale, Milan (M.C.), and the Department of Internal Medicine, University of Catania, Catania (S.N.) - both in Italy; Department of Medicine and Pediatrics, Penn State Hershey Allergy, Asthma, and Immunology, Hershey (T. Craig), and CSL Behring, King of Prussia (D.B.-K., J.E., D.P.) - both in Pennsylvania; the Department of Dermatology, Johannes Gutenberg University Mainz, Mainz (K.B.), and CSL Behring, Marburg (H. Feuersenger, J.-P.L., T.M., I.P.) - both in Germany; Baker Allergy, Asthma and Dermatology Research Center, Portland, OR (J. Baker); Institute for Asthma and Allergy, Chevy Chase, MD (H.H.L.); Allergy and Immunology Unit, Chaim Sheba Medical Center, Tel Hashomer (A.R.), and Allergy and Immunology Unit, Tel Aviv Sourasky Medical Center, Tel Aviv (S.K.) - both in Israel; Clinical Research Center of Alabama, Birmingham (J. Bonner, J.A.); Department of Internal Medicine, Allergy Section Cincinnati, University of Cincinnati College of Medicine, Cincinnati (J.A.B.), and Toledo Institute of Clinical Research, Toledo (S.M.R.) - both in Ohio; Allergy Asthma Research Associates Research Center, Dallas (W.R.L.); Hungarian Angioedema Center, Third Department of Internal Medicine, Semmelweis University, Budapest (H. Farkas); the Department of Medicine, Immunology, and Allergy, Campbelltown Hospital, Campbelltown, NSW, Australia (C.H.K.); the Department of Clinical Immunology and Allergy, St. Michael's Hospital, Toronto (G.L.S.), Centre de Recherche Appliqué en Allergie de Québec, Quebec, QC (J.H.), McMaster University, Hamilton, ON (P.K.K.), Ottawa Allergy Research and University of Ottawa Medical School, Ottawa (W.Y.), and University of Alberta Hospital, Edmonton (B.R.) - all in Canada; Allergy and Asthma Clinical Research, Walnut Creek (J.J.), University of California, San Diego School of Medicine, La Jolla (M.R., B.L.Z.), and 705 W. La Veta Ave., Suite 101, Orange (D.S.L.) - all in California; Medical Research of Arizona, Scottsdale (M.E.M.); Hospital General Universitario Gregorio Marañón and Biomedical Research Network on Rare Diseases-U761, Institute for Health Research, Gregorio Marañón (M.L.B.), and the Allergy Department, Hospital La Paz Institute for Health Research, Biomedical Research Network on Rare Diseases (T. Caballero), Madrid, the Allergy Department, IIS Hospital Universitario La Fe, Valencia (M.D.H.), and Hospital Universitario Vall d'Hebron, Barcelona (M.G.) - all in Spain; Asthma and Allergy Association, Colorado Springs, CO (R.N.); Department of Internal Medicine, Virginia Commonwealth University, Richmond (L.B.S.); Spitalul Clinic Municipal, Cluj-Napoca, Romania (I.C.); Vital Prospects Clinical Research Institute, Tulsa, OK (I.H.); Institute of Clinical Immunology and Allergology, University Hospital, Hradec Kralove, Czech Republic (P.K.); Division of Rheumatology, Allergy, and Immunology, Massachusetts General Hospital, Boston (A.B.); and Marycliff Allergy Specialists, Spokane, WA (R.G.G.).

Background: Hereditary angioedema is a disabling, potentially fatal condition caused by deficiency (type I) or dysfunction (type II) of the C1 inhibitor protein. In a phase 2 trial, the use of CSL830, a nanofiltered C1 inhibitor preparation that is suitable for subcutaneous injection, resulted in functional levels of C1 inhibitor activity that would be expected to provide effective prophylaxis of attacks.

Methods: We conducted an international, prospective, multicenter, randomized, double-blind, placebo-controlled, dose-ranging, phase 3 trial to evaluate the efficacy and safety of self-administered subcutaneous CSL830 in patients with type I or type II hereditary angioedema who had had four or more attacks in a consecutive 2-month period within 3 months before screening. Read More

Orphanet J Rare Dis 2017 Mar 16;12(1):55. Epub 2017 Mar 16.

Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.

Background: With a potentially early onset, hereditary angioedema (HAE) requires special knowledge also in infancy and early childhood. In children from families with HAE, the diagnosis should be confirmed or refuted early, which can be difficult. Studies of childhood HAE and the diagnostic approaches are limited. Read More

Clin Imaging 2017 May - Jun;43:122-126. Epub 2017 Mar 8.

Department of Radiology, Northwestern Memorial Hospital, Northwestern University Feinberg School of Medicine, 676 N. Saint Clair St., Suite 800, Chicago, IL 60611, United States. Electronic address:

Angioedema is a condition in which an increase in vascular permeability leads to the swelling of body tissues. There are both hereditary and acquired forms of the disease, with the latter often associated with the administration of angiotensin-converting enzyme inhibitor medication. Involvement of the intestinal tract is a rare manifestation of angioedema, and can present with abdominal pain, nausea, and vomiting. Read More

Crit Care Med 2017 Apr;45(4):725-735

1Division of Pulmonary, Critical Care, Allergy and Immunology, Department of Medicine, Wake Forest Baptist Medical Center, Winston-Salem, NC.2Division of Allergy and Clinical Immunology, Department of Medicine, W.G. (Bill) Hefner VA Medical Center, Salisbury, NC.

Objectives: Angioedema is a potentially life-threatening occurrence that is encountered by critical care providers. The mechanistic understanding of angioedema syndromes has improved in recent years, and novel medications are available that improve outcomes from these syndromes. This clinically focused review will describe the underlying genetics, pathophysiology, classification and treatment of angioedema syndromes, with an emphasis on the novel pharmacologic agents that have recently become available for acute treatment. Read More

Int J Otolaryngol 2017 14;2017:1476402. Epub 2017 Feb 14.

Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.

Objective. To asses a cohort of 105 consecutive patients with angiotensin converting enzyme-inhibitor induced angioedema with regard to demographics, risk factors, family history of angioedema, hospitalization, airway management, outcome, and use of diagnostic codes used for the condition. Study Design. Read More

J Allergy Clin Immunol Pract 2017 Jul - Aug;5(4):1142-1145. Epub 2017 Mar 9.

CSL Behring, King of Prussia, Pa.

Ann Allergy Asthma Immunol 2017 Apr 9;118(4):452-455. Epub 2017 Mar 9.

Division of Rheumatology, Allergy and Immunology, Department of Medicine, University of California-San Diego, La Jolla, California.

Background: Symptoms of hereditary angioedema (HAE) attacks can recur soon after initial treatment; the durability of response for recombinant human C1 esterase inhibitor (rhC1INH) treatment is unknown.

Objective: To examine the efficacy and durability of rhC1INH for acute HAE attacks.

Methods: In this pooled post hoc analysis of 2 trials, patients with type I or II HAE (functional C1INH levels <50% of normal) and a baseline visual analog scale score of at least 50 mm were included if they had received at least 1 intravenous dose of 50 IU/kg of rhC1INH. Read More

J Allergy Clin Immunol Pract 2017 Mar 8. Epub 2017 Mar 8.

Department of Biomedical and Clinical Sciences, Luigi Sacco Hospital, University of Milan, Milan, Italy; ASST Fatebenefratelli Sacco, Milan, Italy.

Background: Acquired angioedema due to C1-inhibitor deficiency (C1-INH-AAE) is a rare disease with no prevalence data or approved therapies.

Objective: To report data on patients with C1-INH-AAE followed at Angioedema Center, Milan (from 1976 to 2015).

Methods: Diagnostic criteria included history of recurrent angioedema without wheals; decreased C1-INH antigen levels and/or functional activity of C1-INH and C4 antigen less than 50% of normal; late symptom onset (>40 years); no family history of angioedema and C1-INH deficiency. Read More

Ann Allergy Asthma Immunol 2017 Apr 7;118(4):456-460.e1. Epub 2017 Mar 7.

Division of Rheumatology, Allergy, and Immunology, Department of Medicine, University of California at San Diego, La Jolla, California.

Background: Hereditary angioedema due to C1 inhibitor deficiency (HAE) is a rare, life-threatening disease that imposes a significant burden on affected patients. 17α-alkylated androgens (anabolic androgens) decrease attack frequency and severity but carry the risk of potentially serious dose-related adverse effects. Despite the emergence of targeted therapies for HAE, continued anabolic androgen use has been driven in part by their low cost. Read More