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Allergy Asthma Proc 2021 May;42(3):205-213

Section of Allergy, Asthma and Immunology, Department of Medicine and Pediatrics, Penn State University, Hershey, PA.

Hereditary Angioedema (HAE) is a rare, autosomal dominant, life threatening disease, secondary to the deficiency of C1-inhibitor, dysfunction of C1-inhibitor or inadequate control of the contact pathway. Presentation includes recurrent swelling of the skin, upper airway and the abdomen. Trauma can precipitate attacks, which in the airway can lead to asphyxia. Read More

Allergy Asthma Proc 2021 May;42(3):S17-S25

Department of Medicine, Duke University School of Medicine, Durham, North Carolina.

Hereditary angioedema (HAE) is a rare disorder caused by genetic mutations that lead to recurrent episodes of swelling in various parts of the body. Prophylactic treatment is common for patients with HAE, and the therapeutic options have expanded in recent years. The current standard of care for prophylactic HAE therapies is subcutaneous treatment, which can be self-administered at home, greatly improving patient quality of life. Read More

Allergy Asthma Proc 2021 May;42(3):S11-S16

Department of Medicine, Duke University School of Medicine, Durham, North Carolina.

Hereditary angioedema (HAE) is a rare genetic disease that results in recurrent, debilitating, and potentially life-threatening swelling episodes in the extremities, genitals, gastrointestinal tract, and upper airway. Patients can experience significant burdens related to their disease. Informal or familial caregivers often support patients with HAE and likely share in the disease-related burdens, although there are limited HAE caregiver-focused reports in the scientific literature. Read More

Allergy Asthma Proc 2021 May;42(3):S4-S10

Division of Rheumatology Allergy and Immunology, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.

Hereditary angioedema (HAE) is a rare, chronic disease characterized by debilitating swelling episodes in various parts of the body. Patients experience significant burdens related to the symptoms and management of HAE, which can affect their daily lives and reduce their overall quality of life. Prophylactic treatment options have expanded in the past decade to the benefit of patients; however, these therapies require scheduled injections, which can be painful, burdensome, and time consuming. Read More

Allergy Asthma Proc 2021 May;42(3):S1-S3

Department of Medicine, Duke University School of Medicine, Durham, North Carolina.

Clin Rev Allergy Immunol 2021 May 6. Epub 2021 May 6.

Department of Medicine, Medical University of South Carolina, Charleston, SC, USA.

The plasma contact system is the initiator of the intrinsic pathway of coagulation and the main producer of the inflammatory peptide bradykinin. When plasma is exposed to a negatively charged surface the two enzymes factor XII (FXII) and plasma prekallikrein (PK) bind to the surface alongside the co-factor high molecular weight kininogen (HK), where PK is non-covalently bound to. Here, FXII and PK undergo a reciprocal activation feedback loop that leads to full contact system activity in a matter of seconds. Read More

J Investig Allergol Clin Immunol 2021 May 5. Epub 2021 May 5.

Department of Chest Diseases, Division of Allergy and Immunology, Ankara University School of Medicine, Ankara, Turkey.

Clin Case Rep 2021 Apr 20;9(4):2438-2441. Epub 2021 Mar 20.

Asthma Allergy Centers Portage MI USA.

Non-SERPING1 gene variant hereditary angioedema patients often need to take progesterone, attenuated androgens, and antifibrinolytics to control symptoms. These drugs may need to be tapered to extinction or reduced as lanadelumab-flyo reaches maximum concentration. Read More

Indian J Med Microbiol 2021 Apr 29. Epub 2021 Apr 29.

Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India.

Introduction: Hereditary angioedema (HAE) is a clinical condition which could be fatal if not identified and managed appropriately. Knowledge of this condition is mostly confined to individual case reports and literature reviews in India. In this retrospective study we describe HAE cases which presented to a tertiary care centre in India over a period of three and half years. Read More

J Dermatol 2021 Apr 29. Epub 2021 Apr 29.

Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan.

Hereditary angioedema (HAE) is a rare condition characterized by episodic local edema involving various organs, which can be life-threatening in some cases. Among the three subtypes of the disease, HAE types I and II are known to be caused by heterozygous mutations in the SERPING1 gene encoding C1 inhibitor (C1INH). Although a number of mutations in the SERPING1 gene have been identified to date, the mechanisms how these mutations cause HAE are not completely understood. Read More

J Allergy Clin Immunol Pract 2021 Apr 24. Epub 2021 Apr 24.

Department of Dermatology, Mayo Clinic Rochester, Rochester, Minn.

Urticaria and angioedema are experienced by up to 1 in 5 people, usually the result of common allergen or medication triggers and infections. Similarly, the majority of recurrent angioedema has an exogenous trigger, for example, angiotensin converting enzyme inhibitors, or is hereditary (type 1 and 2 hereditary angioedema); chronic spontaneous urticaria are most often autoimmune or autoallergic in routine clinical practice. There are, however, several skin and systemic conditions that can imitate the clinical appearance of either angioedema or urticaria, whereas there are several uncommon conditions that have chronic urticaria and/or recurrent angioedema as part of their disease manifestations. Read More

J Allergy Clin Immunol Pract 2021 Apr 22. Epub 2021 Apr 22.

Clinical Center of Allergology, Clinic of Allergy and Asthma, University Hospital "Alexandrovska", Medical University of Sofia, Sofia, Bulgaria.

Women appear to be more frequently affected with urticaria and angioedema. Sex hormones are believed to have an important mechanistic role in regulating pathways involved in these conditions. This effect is likely nonspecific for chronic spontaneous urticaria (CSU) or many forms of angioedema (AE), because many other chronic diseases such as asthma are also affected by sex hormones. Read More

Int Arch Allergy Immunol 2021 Apr 22:1-8. Epub 2021 Apr 22.

Department of Dermatology, Venereology and Allergology, University Hospital Leipzig, Leipzig, Germany.

Background: Hereditary angioedema (HAE) is associated with relevant disease-related burden. We aimed at investigating prevalence of depression and anxiety in patients with HAE in Leipzig, Germany.

Methods: Questionnaire-based evaluation of medical history, Angioedema Control Test (AECT), Angioedema Quality of Life Questionnaire (AE-QoL), Generalized Anxiety Disorder Scale-7 (GAD-7), and Hospital Anxiety and Depression Scale (HADS). Read More

Acta Derm Venereol 2021 04 21. Epub 2021 Apr 21.

Faculty of Health Science, University of Southern Denmark, DK-5000 Odense C, Denmark. E-mail:

Angioedema and hereditary angioedema are characterized by swelling of the subcutaneous and/or submucosal tissue, resulting in localized oedema. The rarity, but also the diverse clinical presentation, of these conditions can be challenging regarding diagnosis, treatment, and management. Patient-reported outcome measures (PROMs) are data received directly from the patient, providing the patient’s perspective on various subjects regarding health and well-being. Read More

Allergy Asthma Clin Immunol 2021 Apr 20;17(1):41. Epub 2021 Apr 20.

IQVIA, Durham, NC, USA.

Background: The epidemiologic impact of hereditary angioedema (HAE) is difficult to quantify, due to misclassification in retrospective studies resulting from non-specific diagnostic coding. The aim of this study was to identify cohorts of patients with HAE-1/2 by evaluating structured and unstructured data in a US ambulatory electronic medical record (EMR) database.

Methods: A retrospective feasibility study was performed using the GE Centricity EMR Database (2006-2017). Read More

Allergy Asthma Clin Immunol 2021 Apr 19;17(1):40. Epub 2021 Apr 19.

University of California San Diego, 8899 University Center Ln, San Diego, CA, 92122, USA.

Background: Hereditary angioedema (HAE) is a rare disease characterized by unpredictable, potentially life-threatening attacks, resulting in significant physical and emotional burdens for patients and families. To optimize care for patients with HAE, an individualized management plan should be considered in partnership with the physician, requiring comprehensive assessment of the patient's frequency and severity of attacks, disease burden, and therapeutic control. Although several guidelines and consensus papers have been published concerning the diagnosis and treatment of HAE, there has been limited specific clinical guidance on the assessment of disease burden and quality of life (QoL) in this patient population. Read More

J Allergy Clin Immunol Pract 2021 Apr 15. Epub 2021 Apr 15.

Department of Immunology, Royal London Hospital, Barts Health NHS Trust, London, United Kingdom.

Background: Berotralstat (BCX7353) is a recently approved, oral, once-daily kallikrein inhibitor for hereditary angioedema (HAE) prophylaxis. In the APeX-2 trial, berotralstat reduced HAE attack rates over 24 weeks, with a favorable safety and tolerability profile.

Objective: Evaluate berotralstat safety, tolerability, and effectiveness over 48 weeks. Read More

Clin Res Hepatol Gastroenterol 2021 Apr 14:101702. Epub 2021 Apr 14.

Director, Division of Gastroenterology and Liver Disease, The George Washington University, 3131 I St NW, Washington, DC, United States.

Angioedema can be either mast cell- (histamine-) mediated or bradykinin-mediated. Treatment approaches for the two types are very different, making differential diagnosis critical. Severe acute abdominal pain caused by intestinal angioedema is commonly misdiagnosed, especially when associated with bradykinin-mediated angioedema. Read More

Einstein (Sao Paulo) 2021 9;19:eRW5498. Epub 2021 Apr 9.

Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.

Angioedema attacks are common causes of emergency care, and due to the potential for severity, it is important that professionals who work in these services know their causes and management. The mechanisms involved in angioedema without urticaria may be histamine- or bradykinin-mediated. The most common causes of histamine-mediated angioedema are foods, medications, insect sting and idiopathic. Read More

Pediatr Allergy Immunol 2021 Apr 13. Epub 2021 Apr 13.

Department of Dermatology, Medical University of Graz, Graz, Austria.

Clin Mol Allergy 2021 Apr 7;19(1). Epub 2021 Apr 7.

General Medicine Department, ASST-Fatebenefratelli-Sacco, Milan, Italy.

Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare disease. Few states in developing countries have an adequate management of HAE, but none of them belongs to the former USSR area. This study analyses data from C1-INH-HAE patients from Belarus. Read More

J Allergy Clin Immunol Pract 2021 Apr 2. Epub 2021 Apr 2.

Department of Pediatrics, Federal University of São Paulo, São Paulo, Brazil.

Angioedema and urticaria affect people of all ages. Accurate diagnosis and optimum management is essential for healthy aging. Older people continue to experience mast cell-mediated urticaria and angioedema, with a higher prevalence of autoimmune and a lower prevalence of autoallergic disease. Read More

Int J Environ Res Public Health 2021 03 12;18(6). Epub 2021 Mar 12.

Department of Medicine, IRCCS Istituti Clinici Scientifici Maugeri, 20138 Milan, Italy.

C1-inhibitor hereditary angioedema (C1-INH-HAE) is a rare disease characterized by self-limiting edema associated with localized vasodilation due to increased levels of circulating bradykinin. C1-INH-HAE directly influences patients' everyday lives, as attacks are unpredictable in frequency, severity, and the involved anatomical site. The autonomic nervous system could be involved in remission. Read More

Genes (Basel) 2021 Mar 11;12(3). Epub 2021 Mar 11.

Hungarian Angioedema Center of Reference and Excellence, Department of Internal Medicine and Haematology, Semmelweis University, H-1088 Budapest, Hungary.

Hereditary angioedema (HAE) is a rare disease belonging to the group of bradykinin-mediated angioedemas, characterized by recurring edematous episodes involving the subcutaneous and/or submucosal tissues. Most cases of HAE are caused by mutations in the gene encoding C1-inhibitor (C1-INH-HAE); however, mutation analysis identified seven further types of HAE: HAE with Factor XII mutation (FXII-HAE), with plasminogen gene mutation (PLG-HAE), with angiopoietin-1 gene mutation (ANGPT1-HAE), with kininogen-1 gene mutation (KNG1-HAE), with a myoferlin gene mutation (MYOF-HAE), with a heparan sulfate-glucosamine 3-sulfotransferase 6 () mutation, and hereditary angioedema of unknown origin (U-HAE). We sequenced DNA samples stored from 124 U-HAE patients in the biorepository for exon 9 of the gene. Read More

Clin Rev Allergy Immunol 2021 Mar 31. Epub 2021 Mar 31.

Department of Systems Medicine, University Hospital of Padua, Padua, Italy.

Hereditary angioedema (HAE) is a rare condition, mostly due to genetic deficiency of complement C1 inhibitor (C1-INH). The rarity of HAE impedes extensive data collection and assessment of the impact of certain factors known to affect the course of this disabling and life-threatening disease. Establishing a global registry could assist to overcome such issues and provides valuable patient data from different countries. Read More

Australas J Dermatol 2021 Mar 30. Epub 2021 Mar 30.

Division of Dermatology, Hitachi General Hospital, Ibaraki, Japan.

Pediatr Emerg Care 2021 Apr;37(4):224-225

Pediatr Emerg Care 2021 Apr;37(4):218-223

Professor of Pediatrics, Department of Pediatrics, Division of Emergency Medicine, Cincinnati Children's Hospital Medical Center, and University of Cincinnati Department of Pediatrics, Cincinnati, OH.

Abstract: Hereditary angioedema (HAE) is a rare, often underrecognized genetic disorder caused by either a C1 esterase inhibitor deficiency (type 1) or mutation (type 2). This leads to overproduction of bradykinin resulting in vasodilation, vascular leakage, and transient nonpitting angioedema occurring most frequently in the face, neck, upper airway, abdomen, and/or extremities. Involvement of the tongue and laryngopharynx has been associated with asphyxiation and death. Read More

Clin Exp Allergy 2021 Mar 26. Epub 2021 Mar 26.

Department of Internal Medicine, Grenoble University Hospital, Grenoble, France.

Acute attacks could occur during the convalescent phase of COVID-19 illness, more commonly in patients with a history of frequent attacks. However it is unclear whether the acute attacks during the convalescent phase are specifically triggered by COVID-19 or not. Read More

Pain Med 2021 Mar 26. Epub 2021 Mar 26.

Departments of Anesthesiology and Perioperative Medicine.

Hereditary angioedema (HAE) is a disease manifested by repeated episodes of localized submucosal or subcutaneous edematous episodes, potentially triggered by emotional stress, mechanical trauma, or intake of estrogens. We present our experience managing two parturients with HAE. Multidisciplinary care is essential for planning and executing the specialized care of these patients, and management included extensive planning among obstetric, anesthesiology, and allergy and immunology teams. Read More