7,786 results match your criteria Angioedema Hereditary


Pharmacogenetics of angiotensin converting enzyme inhibitor - induced angioedema.

Clin Exp Allergy 2018 Dec 8. Epub 2018 Dec 8.

Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.

Angioedema is a rare adverse effect of the commonly used angiotensin converting enzyme inhibitors (ACEi) and is reported to occur with a prevalence of 0.1 - 0.7%. Read More

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December 2018

Training patients for self-administration of a new subcutaneous C1-inhibitor concentrate for hereditary angioedema.

Nurs Open 2019 Jan 28;6(1):126-135. Epub 2018 Aug 28.

AARA Research Center Dallas Texas.

Aims: The aim of this study was to provide recommendations for training patients with hereditary angioedema, based on nursing clinical trial experience, to self-administer subcutaneous C1-INH (C1-INH[SC]) used as routine prophylaxis.

Background: A volume-reduced, subcutaneous C1-INH concentrate (C1-INH(SC); HAEGARDA®; CSL Behring) was recently FDA-approved for the routine prevention of hereditary angioedema attacks. Nurses will play an important role in patient training. Read More

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January 2019

The hereditary angioedema syndromes.

Authors:
Alvin H Schmaier

J Clin Invest 2018 Dec 10. Epub 2018 Dec 10.

Hereditary angioedema (HAE) is a rare genetic disorder primarily caused by mutations in the SERPING1 gene encoding the C1 inhibitor (C1INH) that leads to plasma deficiency, resulting in recurrent attacks of severe swelling. In the current issue of the JCI, Haslund et al. show that in a subset of patients with type I HAE, mutated C1INH encoded by HAE-causing SERPING1 acts upon wildtype (WT) C1INH in a dominant-negative manner and forms intracellular C1INH aggregates. Read More

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December 2018

A 56-Year-Old Man With Cardiac Tamponade and Eosinophilia.

Chest 2018 Dec;154(6):e173-e176

Département de Médecine Interne, Université Paris-Diderot, Assistance Publique Hôpitaux de Paris, Hôpital Bichat-Claude Bernard, Paris, France; Unite INSERM U1149, Paris, France. Electronic address:

Case Presentation: A 56-year-old man was admitted to the ICU with chest pain, cough, hemoptysis, increasing dyspnea, and orthopnea for 1 week. The patient reported an 8-kg weight loss over the last month and recurrent wheezing episodes for approximately 1 year. He had a history of tobacco smoking and excessive alcohol consumption, both of which he stopped 15 years ago. Read More

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December 2018

Medication used to control symptoms of chronic urticaria in children.

Asian Pac J Allergy Immunol 2018 Dec 9. Epub 2018 Dec 9.

Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Background: A number of guidelines for management of CU were established based on evidences in adults. In children, the response to CU treatment was not widely studied.

Objective: To investigate the medications used to control symptoms of CU in children and to identify factors associated with time to control CU. Read More

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December 2018

Solar Angioedema: A report of a patient and a review of literature.

Photodermatol Photoimmunol Photomed 2018 Dec 5. Epub 2018 Dec 5.

Department of Dermatology, Henry Ford Hospital, Detroit, MI, USA.

Solar angioedema is a rare photodermatosis, with only 11 reported patients worldwide. Patients develop facial (predominately eyelids, lips) and/or acral swelling hours after sun exposure, especially while on vacation to tropical areas. Management includes photoprotection and sun avoidance; preemptive antihistamines have been tried with minimal effect. Read More

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December 2018
1 Read

SERPING1 mutation in a rare hereditary angioedema with skin blisters.

Ann Allergy Asthma Immunol 2018 Nov 30. Epub 2018 Nov 30.

Department of Biophysics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

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November 2018
1 Read

[Classification and pathophysiology of angioedema].

Hautarzt 2018 Nov 30. Epub 2018 Nov 30.

Klinik für Dermatologie, Venerologie und Allergologie, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland.

Background: The classification of angioedema in daily clinical practice is often challenging.

Objectives: The goal is to review the most recent classification of angioedema and to discuss the underlying pathology.

Materials And Methods: Current guidelines and research on the pathophysiology and classification of angioedema were evaluated. Read More

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November 2018

Pathogenesis of NSAID-induced reactions in aspirin-exacerbated respiratory disease.

Authors:
Tanya M Laidlaw

World J Otorhinolaryngol Head Neck Surg 2018 Sep 5;4(3):162-168. Epub 2018 Sep 5.

Brigham and Women's Hospital, Division of Rheumatology, Immunology and Allergy, Boston, MA, USA.

It is well-established that following ingestion of aspirin or any other inhibitor of cyclooxygenase-1, patients with Samter's disease, or aspirin-exacerbated respiratory disease (AERD) develop the sudden onset of worsening respiratory clinical symptoms, which usually involves nasal congestion, rhinorrhea, wheezing and bronchospasm. Gastrointestinal distress, nausea, a pruritic rash and angioedema can also occasionally develop. However, the underlying pathologic mechanism that drives these clinical reactions remains elusive. Read More

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September 2018
4 Reads

Chemotherapy in Patients with Hereditary Angioedema.

Anticancer Res 2018 Dec;38(12):6801-6807

Internal Medicine Department, Tor Vergata University Hospital, Medical Oncology Unit, Rome, Italy.

Background: Hereditary angioedema (HAE) is an autosomal dominant hereditary disorder characterized by episodic swelling of many body regions (especially throat and abdomen), potentially triggered by medication. No data are available for HAE in patients with cancer assigned to standard chemotherapy. The aim of our study was to identify circulating mediators potentially predictive of acute HAE attacks during chemotherapy. Read More

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December 2018
1 Read

Is Adenoidectomy and/or Tonsillectomy a Risk Factor for Allergic Diseases and Asthma in Adulthood?

Eurasian J Med 2018 Oct;50(3):152-155

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

Objective: To determine the relationship between adenoidectomy and/or tonsillectomy in childhood and allergic diseases in adulthood.

Materials And Methods: A survey investigating the history of adenoidectomy and/or tonsillectomy was administered to patients that were followed-up by our department between January and June 2014 with the diagnosis of asthma, allergic rhinitis, urticaria-angioedema, drug allergy, food allergy, and venom allergy; patients willing to participate were included in the study. The relationship and risk ratios were analyzed. Read More

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October 2018

Perindopril-induced angioedema of the lips and tongue: a case report.

J Med Case Rep 2018 Dec 5;12(1):359. Epub 2018 Dec 5.

Pharmaceutical Care Department, Alansar Hospital, Al Madinah, Al Munawarah, Saudi Arabia.

Background: Ace inhibitor-induced angioedema, characterized by sudden-onset swelling of the mucous membrane, skin, or both, is a rare occurrence in the Kingdom of Saudi Arabia. Because of its safety and efficacy, perindopril is a commonly prescribed angiotensin-converting enzyme inhibitor. Here we describe the clinical manifestations, management, and outcome of perindopril-induced angioedema of the lips and tongue in a 65-year-old Saudi man. Read More

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December 2018
1 Read

Drug Hypersensitivity Reactions Documented in Electronic Health Records within a Large Health System.

J Allergy Clin Immunol Pract 2018 Dec 1. Epub 2018 Dec 1.

Division of General Internal Medicine and Primary Care, Brigham and Women's Hospital, Boston, MA; Harvard Medical School, Boston, MA. Electronic address:

Background: Hypersensitivity reactions (HSRs) are immunologic responses to drugs. Identification of HSRs documented in the electronic health record (EHR) is important for patient safety.

Objective: To examine HSR epidemiology using longitudinal EHR data from a large United States healthcare system. Read More

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December 2018
2 Reads

Recurrent oedema of the uvula in a patient with chronic spontaneous urticaria successfully treated with omalizumab.

Authors:
A Pannofino

J Dermatolog Treat 2018 Dec 4:1-4. Epub 2018 Dec 4.

a Allergology and Immunology Clinic , Operative Unit of Medicine , Policoro Hospital, Matera , Italy .

Uvula oedema is a condition characterized by a sensation of a foreign body in the oropharynx and difficulty to speak; sometimes, if associated to glottis oedema, difficulty to breathe and dysphonia are also present. Urticaria is a disease characterized by itching wheals on the skin, and sometimes angioedema. Chronic urticaria is spontaneous when the aetiology is unknown. Read More

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December 2018
2 Reads

Hereditary Angioedema Type II: First Presentation in Adulthood with Recurrent Severe Abdominal Pain.

Case Reports Immunol 2018 29;2018:7435870. Epub 2018 Oct 29.

Cleveland Clinic Abu Dhabi, UAE.

A 27-year-old Emirate man presented to Cleveland Clinic Abu Dhabi emergency department with a 4 year history of recurrent episodes of severe swellings affecting different parts of his body. He used to get 2 swelling episodes every week affecting either his face, hands, feet or scrotum and severe abdominal pain twice a week. Abdominal CT scan and a colonoscopy showed bowel wall oedema. Read More

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October 2018

Effect of Lanadelumab Compared With Placebo on Prevention of Hereditary Angioedema Attacks: A Randomized Clinical Trial.

JAMA 2018 11;320(20):2108-2121

Department of Dermatology and Allergy, Dermatological Allergology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Importance: Current treatments for long-term prophylaxis in hereditary angioedema have limitations.

Objective: To assess the efficacy of lanadelumab, a fully human monoclonal antibody that selectively inhibits active plasma kallikrein, in preventing hereditary angioedema attacks.

Design, Setting, And Participants: Phase 3, randomized, double-blind, parallel-group, placebo-controlled trial conducted at 41 sites in Canada, Europe, Jordan, and the United States. Read More

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November 2018
3 Reads

The diagnosis of hereditary angioedema with C1 inhibitor deficiency: a survey of Canadian physicians and laboratories.

Allergy Asthma Clin Immunol 2018 21;14:83. Epub 2018 Nov 21.

10GREPI EA7408, University Grenoble Alpes, Grenoble, France.

Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is an autosomal dominant disease resulting in random and unpredictable attacks of swelling. The swelling in C1-INH-HAE is a result of impaired regulation of bradykinin production. The fact that the array of tests needed to diagnose HAE is not always available to the treating physicians is challenging for them and their patients. Read More

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November 2018
1 Read

Basophil activation test in children with autoimmune chronic spontaneous urticaria: Is it ready for clinical practice?

Immunobiology 2018 Nov 13. Epub 2018 Nov 13.

Department of Pediatrics, Foundation IRCCS Policlinico San Matteo, Pavia, Italy.

Introduction: Chronic spontaneous urticaria (CSU) is characterized by recurrent itchy wheals, angioedema or both, that persist for longer than six weeks. In children, up to 40% of chronic spontaneous urticaria is due to mast cells and basophils-activating autoantibodies, mostly directed against the IgE high-affinity receptor subunit (FcεRI). Indirect basophil activation test (BAT) has been proposed in the diagnosis of autoimmune urticaria. Read More

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November 2018
3 Reads

Differences in chronic spontaneous urticaria between Europe and Central/South America: results of the multi-center real world AWARE study.

World Allergy Organ J 2018 16;11(1):32. Epub 2018 Nov 16.

17Novartis Pharma AG, Basel, Switzerland.

Background: Global chronic urticaria (CU) disease experience and management is not well documented. This study descriptively compares these aspects among CU patients residing in Europe (EU) and Central and South America (C/SA).

Methods: AWARE (A World-wide Antihistamine-Refractory chronic urticaria patient Evaluation) is a global prospective, non-interventional study of CU in the real-world setting. Read More

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November 2018
1 Read

An Investigational RNAi Therapeutic Targeting Factor XII (ALN-F12) for the Treatment of Hereditary Angioedema.

RNA 2018 Nov 21. Epub 2018 Nov 21.

Alnylam Pharmaceuticals.

Background: Hereditary angioedema (HAE) is a genetic disorder mostly caused by mutations in the C1 esterase inhibitor gene (C1INH) that results in poor control of contact pathway activation and excess bradykinin generation. Bradykinin increases vascular permeability and is ultimately responsible for the episodes of swelling characteristic of HAE.

Objective: We hypothesized that the use of RNA interference (RNAi) to reduce plasma Factor XII (FXII), which initiates the contact pathway signaling cascade, would reduce contact pathway activation and prevent excessive bradykinin generation. Read More

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November 2018
2 Reads

Unnecessary abdominal interventions in patients with hereditary angioedema.

J Dtsch Dermatol Ges 2018 Dec 21;16(12):1443-1449. Epub 2018 Nov 21.

Department of Oto-Rhino-Laryngology Head and Neck Surgery, Ulm University Medical Center, Germany.

Background: Hereditary angioedema (HAE) is a rare genetic disorder that leads to recurrent development of mucosal and dermal swelling. It is mediated by bradykinin, and can affect virtually any part of the human body, including the gastrointestinal tract, the extremities, and the laryngeal and pharyngeal regions. Safe and potent drugs are available for acute and prophylactic treatment of HAE. Read More

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December 2018
7 Reads

Hereditary angioedema with C1 inhibitor (C1-INH) deficit: the strength of recognition (51 cases).

Braz J Med Biol Res 2018 Nov 14;51(12):e7813. Epub 2018 Nov 14.

Disciplina de Imunologia Clínica, Faculdade de Medicina do ABC, Santo André, SP, Brasil.

Hereditary angioedema (HAE) is a rare autosomal dominant disease due to C1 esterase inhibitor deficiency (C1-INH). The disease is characterized by subcutaneous and submucosal edema in the absence of urticaria due to the accumulation of bradykinin. This descriptive study aimed to evaluate the clinical characteristics of patients with a confirmed diagnosis of HAE referred to our Outpatient Clinic between December 2009 and November 2017. Read More

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November 2018
2 Reads

Predictors of response to omalizumab and relapse in chronic spontaneous urticaria: a study of 470 patients.

J Eur Acad Dermatol Venereol 2018 Nov 19. Epub 2018 Nov 19.

Ambulatorio di Allergologia, Clinica San Carlo, Paderno Dugnano, Milan, Italy.

Background: Chronic spontaneous urticaria (CSU) is defined as spontaneous occurrence of wheals and/or angioedema for ≥6 weeks. Omalizumab is a monoclonal anti-IgE antibody effective in refractory CSU, but its mechanism of action and markers predictive of response remain not completely defined.

Objectives: To correlate baseline levels of two proposed biomarkers, total IgE (bIgE) and d-dimer (bd-dimer), and clinical parameters to omalizumab response and to relapses after drug withdrawal. Read More

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November 2018
6 Reads

Acquired cold urticaria: Clinical features, particular phenotypes, and disease course in a tertiary care center cohort.

Authors:
Eden Lake

J Am Acad Dermatol 2018 Nov 14. Epub 2018 Nov 14.

Loyola Univ Medical Center Dermatology, 321 N La Grange Rd, La Grange Park, IL. Electronic address:

Acquired cold urticaria (ACU) is characterized by the development of wheals, angioedema, or both after cold exposure. Age at diagnosis, disease severity, and response to the ice cube challenge test predicted both prognosis and response to therapy. Proper characterization of the type of acquired cold urticaria allows for appropriate counseling and choice of therapy. Read More

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November 2018
6 Reads

Ordinary vibratory angioedema is not generally associated with ADGRE2-mutation.

J Allergy Clin Immunol 2018 Nov 13. Epub 2018 Nov 13.

Department of Dermatology and Allergy, Allergie-Centrum-Charité, Charité-Universitätsmedizin, Berlin 10117, Germany.

Mild forms of vibratory angioedema/pruritus are more common than expected. As the ADGRE2-mutation causing familiar vibratory angioedema was not seen in the population investigated, at least two subtypes must exist. Read More

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November 2018
1 Read

Threatened Respiratory Compromise in the Setting of Isolated Angioedema.

Clin Pract Cases Emerg Med 2018 Nov 28;2(4):291-293. Epub 2018 Sep 28.

University of California, Irvine, Department of Emergency Medicine, Orange, California.

Isolated angioedema of the uvula, or Quincke's disease, is a rare condition that can cause respiratory compromise. Although typically self-limiting, episodes of angioedema may require prompt therapy to prevent obstruction of the proximal airway. In this case report we review the appropriate steps for initial evaluation of patients with suspected angioedema, primary etiologies, and appropriate initial therapy. Read More

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November 2018
1 Read

Differential Diagnosis of Cheilitis - How to Classify Cheilitis?

Acta Clin Croat 2018 Jun;57(2):342-351

Department of Dermatovenereology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia.

Although cheilitis as a term describing lip inflammation has been identified and recognized for a long time, until now there have been no clear recommendations for its work-up and classification. The disease may appear as an isolated condition or as part of certain systemic diseases/conditions (such as anemia due to vitamin B12 or iron deficiency) or local infections (e.g. Read More

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June 2018
7 Reads

Chronic Spontaneous Urticaria or Autoinflammatory Disease? The Therapeutic Effect of Omalizumab in a Pediatric Patient.

J Dermatolog Treat 2018 Nov 14:1-7. Epub 2018 Nov 14.

a 1 University Department Pro.Sa.M.I. "G. D'Alessandro", University of Palermo , Italy.

Chronic spontaneous urticaria is a clinical condition characterized by spontaneous or inducible recurrent wheals. This condition may significantly affect quality of life of patients and of their families. Aetiology is not identified in 25-85% of cases that are indicated as "idiopathic", because all diagnostic tests are negative. Read More

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November 2018
1 Read

Consequences of Misdiagnosed and Mismanaged Hereditary Angioedema Laryngeal Attacks: An Overview of Cases from the Romanian Registry.

Case Rep Emerg Med 2018 22;2018:6363787. Epub 2018 Oct 22.

Romanian Network for Hereditary Angioedema, 11a Sântana St, 540256 Tîrgu-Mureş, Romania.

Emergency department (ED) physicians frequently encounter patients presenting with angioedema. Most of these involve histamine-mediated angioedema; however, less common forms of angioedema (bradykinin-mediated) also occur. It is vital physicians correctly recognize and treat this; particularly since bradykinin-mediated angioedema does not respond to antihistamines, corticosteroids or epinephrine and hereditary angioedema (HAE) laryngeal attacks can be fatal. Read More

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October 2018
1 Read

A 79-Year-Old Man With Angioedema.

Air Med J 2018 Nov - Dec;37(6):336-338. Epub 2018 Oct 15.

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October 2018
1 Read

The role of genetics in the current diagnostic workup of idiopathic non-histaminergic angioedema.

Allergy 2018 Nov 13. Epub 2018 Nov 13.

Department of Medical Sciences and Public Health, University of Cagliari.

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November 2018
1 Read

NSAIDs-hypersensitivity often induces a blended reaction pattern involving multiple organs.

Sci Rep 2018 Nov 12;8(1):16710. Epub 2018 Nov 12.

Allergy Unit, IBIMA-Regional University Hospital of Malaga-UMA, Malaga, Spain.

Non-steroidal anti-inflammatory drugs (NSAIDs)-induced hypersensitivity reactions are classified by the European Network on Drug Allergy (ENDA) as either cross-reactive or selective. The former is the most frequent type and includes patients with exclusively respiratory symptoms (NSAIDs-exacerbated respiratory disease, NERD) or exclusively cutaneous symptoms: NSAIDs-induced urticaria/angioedema (NIUA); and NSAIDs-exacerbated cutaneous disease (NECD). However, although not reflected in the current classification scheme (ENDA), in clinical practice a combination of both skin and respiratory symptoms or even other organs such as gastrointestinal tract symptoms (mixed or blended reactions) is frequently observed. Read More

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November 2018
4 Reads

Diagnostic biologique des angioedèmes bradykiniques : les recommandations du CREAK.

Presse Med 2018 Nov 8. Epub 2018 Nov 8.

Centre de référence national des angioedèmes (CREAK), 38043 Grenoble, France; Service d'immunologie, CHUGA, 38043 Grenoble, France.

Bradykinin mediated angioedema (BK-AE) can be associated either with C1Inhibitor deficiency (hereditary and acquired forms), either with normal C1Inh (hereditary form and drug induced AE as angiotensin converting enzyme inhibitors…). In case of high clinical suspicion of BK-AE, C1Inh exploration must be done at first: C1Inh function and antigenemy as well as C4 concentration. C1Inh deficiency is significant if the tests are below 50 % of the normal values and controlled a second time. Read More

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November 2018
4 Reads

Angiotensin-Neprilysin Inhibition in Acute Decompensated Heart Failure.

N Engl J Med 2018 Nov 11. Epub 2018 Nov 11.

From the Section of Cardiovascular Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT (E.J.V.); the Thrombolysis in Myocardial Infarction Study Group, Cardiovascular Division, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston (D.A.M., E.B.); Duke Clinical Research Institute, Duke University, Durham, NC (A.D.D.); Novartis Pharmaceuticals, East Hanover, NJ (C.I.D., K.M., R.R.); and the Division of Cardiology, Permanente Medical Group, San Francisco, and the Division of Research, Kaiser Permanente Northern California, Oakland - both in California (A.P.A.).

Background: Acute decompensated heart failure accounts for more than 1 million hospitalizations in the United States annually. Whether the initiation of sacubitril-valsartan therapy is safe and effective among patients who are hospitalized for acute decompensated heart failure is unknown.

Methods: We enrolled patients with heart failure with reduced ejection fraction who were hospitalized for acute decompensated heart failure at 129 sites in the United States. Read More

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November 2018
1 Read

Antihistamine-resistant chronic spontaneous urticaria: 1-year data from the AWARE study.

Clin Exp Allergy 2018 Nov 11. Epub 2018 Nov 11.

Novartis Pharma AG, Basel, Switzerland.

Background: Previous reports indicate that patients with chronic spontaneous urticaria (CSU) are undertreated and that physicians show poor adherence to guideline recommendations. Awareness of CSU has improved in recent years, but it remains unclear if this has improved the management of these patients in clinical practice.

Objective: To describe disease burden, quality of life (QoL), and treatment patterns of patients with H -antihistamine-refractory CSU in Germany. Read More

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November 2018
10 Reads

First preventive mAb for hereditary angioedema.

Authors:
Joana Osorio

Nat Biotechnol 2018 Nov;36(11):1027

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November 2018
1 Read

Does Complement Have a Role in the Pathogenesis of Alopecia Areata?

Skin Appendage Disord 2018 Oct 22;4(4):261-263. Epub 2018 Mar 22.

Department of Dermatology, University of California, Irvine, Irvine, California, USA.

Alopecia areata (AA) is an autoimmune disorder in which immune attack of the anagen follicle causes hair loss in approximately 2% of the population. Although the pathogenesis of AA has not been fully determined, most likely it is mediated by a variety of factors including cellular/humoral immunity and genetic predisposition. Researchers have been interested in the possible role of the complement pathway in AA since the 1970s. Read More

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October 2018
5 Reads

Nonsteroidal anti-inflammatory drug hypersensitivity in the Asia-Pacific.

Asia Pac Allergy 2018 Oct 23;8(4):e38. Epub 2018 Oct 23.

Department of Rheumatology, Allergy and Immunology, Tan Tock Seng Hospital, Singapore 308433.

Nonsteroidal anti-inflammatory drug (NSAID) hypersensitivity reactions (HSRs) are often nonimmunologically mediated reactions which present with immediate HSR type manifestations. These are mediated by cyclooxygenase inhibition resulting in shunting towards the excessive production of leukotrienes. Important disease associations include asthma, nasal polyposis, and chronic spontaneous urticaria, especially among adults. Read More

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October 2018
1 Read

Recent Advances in Clinical Allergy and Immunology.

Authors:
Dagmar Simon

Int Arch Allergy Immunol 2018 6;177(4):324-333. Epub 2018 Nov 6.

Allergic diseases are of great concern because of their high prevalence, which is still rising in several regions, their impact on patients' physical and psychological health, the huge burden they place on patients' quality of life, as well as the socioeconomic consequences that they cause. Recent research has provided new data on both genetic and environmental risk factors of atopic/allergic diseases. The application of new technologies such as "omics" has allowed a better understanding of the pathogenesis and has helped with the identification of therapeutic targets. Read More

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November 2018
3 Reads

Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema.

J Clin Invest 2018 Dec 10. Epub 2018 Dec 10.

Department of Biomedicine, Aarhus University, Aarhus, Denmark.

Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent edema attacks associated with morbidity and mortality. HAE results from variations in the SERPING1 gene that encodes the C1 inhibitor (C1INH), a serine protease inhibitor (serpin). Reduced plasma levels of C1INH lead to enhanced activation of the contact system, triggering high levels of bradykinin and increased vascular permeability, but the cellular mechanisms leading to low C1INH levels (20%-30% of normal) in heterozygous HAE type I patients remain obscure. Read More

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December 2018
4 Reads

Daily Lisinopril vs Placebo for Prevention of Chemoradiation-Induced Pulmonary Distress in Patients With Lung Cancer (Alliance MC1221): A Pilot Double-Blind Randomized Trial.

Int J Radiat Oncol Biol Phys 2018 Nov 2. Epub 2018 Nov 2.

Department of Radiation Oncology, Mayo Clinic, Jacksonville, Florida.

Purpose: Chemoradiation (CRT) is an integral treatment modality for patients with locally advanced lung cancer. It has been hypothesized that current use of an angiotensin-converting enzyme inhibitor during CRT may be protective for treatment-related lung damage and pneumonitis.

Methods And Materials: We conducted a pilot, double-blind, placebo-controlled randomized trial. Read More

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November 2018
5 Reads

Factor XII truncation accelerates activation in solution.

J Thromb Haemost 2018 Nov 5. Epub 2018 Nov 5.

Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.

Essentials During contact system activation, factor XII is progressively cleaved by plasma kallikrein. We investigated the role of factor XII truncation in biochemical studies. Factor XII contains naturally occurring truncating cleavage sites for a variety of enzymes. Read More

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November 2018
5 Reads

No Weekend or After-Hours Effect in Acute Ischemic Stroke Patients Treated by Telemedicine.

J Stroke Cerebrovasc Dis 2019 Jan 2;28(1):198-204. Epub 2018 Nov 2.

Institute for Stroke and Cerebrovascular Disease, Houston, TX; University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX. Electronic address:

Background: Stroke outcomes have been shown to be worse for patients presenting overnight and on weekends (after-hours) to stroke centers compared with those presenting during business hours (on-hours). Telemedicine (TM) helps provide evaluation and safe management of stroke patients. We compared time metrics and outcomes of stroke patients who were assessed and received intravenous recombinant tissue plasminogen activator (IV-tPA) via TM during after-hours with those during on-hours. Read More

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January 2019
5 Reads

Autoimmune Progesterone Dermatitis Diagnosed by Lymphocyte Transformation Test and Progesterone Provocation Test.

Acta Dermatovenerol Croat 2018 Oct;26(3):276-277

Assoc. Prof. Suzana Ljubojević Hadžavdić, MD, PhD, Department of Dermatology and Venereology University Hospital Center Zagreb School of Medicine University of Zagreb, Šalata 4, 10000 Zagreb, Croatia;

Autoimmune progesterone dermatitis (APD) is rare autoimmune response to endogenous progesterone or to earlier exposure to exogenous progesterone (1). Skin lesions typically occur due to increases in progesterone during the luteal phase of the menstrual cycle (2). A-31-year-old mother of two children presented to our Department with a 5-year history of pruritic and painful erythematosus macules, papules, and patches on her neck, pectoral region, and face, which appeared 2-3 days before the onset of menses and gradually resolved 7-10 days later (Figure 1). Read More

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October 2018
6 Reads

Lethal manifestations of angioedema.

Forensic Sci Med Pathol 2018 Nov 3. Epub 2018 Nov 3.

Forensic Science SA, 21 Divett Place, Adelaide, 5000, Australia.

An 86-year-old woman with a history of angioedema was found dead at her home address. She had recently complained of a swollen tongue. At autopsy the tongue was grossly edematous, protruding from the mouth. Read More

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November 2018
3 Reads

Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families.

Gene 2018 Oct 30;685:179-185. Epub 2018 Oct 30.

Center for Research and Molecular Diagnosis of Genetic Diseases, Department of Biophysics, Federal University of São Paulo, Rua Pedro de Toledo, 669, 9° andar, Vila Clementino, 04039-032 São Paulo, SP, Brazil. Electronic address:

Background: Hereditary angioedema (HAE) is a rare genetic disorder mainly caused by mutations in the SERPING1 gene, determining a deficit of C1 inhibitor (C1-INH). In approximately 10% of the cases, HAE with C1-INH deficiency (C1-INH-HAE) is caused by large gene rearrangements, which are not detected by Sanger sequencing. Here we present the exon quantification technique (EQT), a molecular diagnostic test for the detection of large genetic rearrangements in SERPING1, mapping the exact size and location of the deletion caused by the recombination of Alu elements. Read More

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October 2018
1 Read

The physician and hereditary angioedema friend or foe: 62-year diagnostic delay and iatrogenic procedures.

Allergy Asthma Clin Immunol 2018 25;14:75. Epub 2018 Oct 25.

1Clinical Center of Allergology, Clinic of Allergy and Asthma, University Hospital "Alexandrovska", Medical University of Sofia, 1, Georgi Sofiiski Str., 1431 Sofia, Bulgaria.

Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease characterized by episodes of acute subcutaneous swelling, and/or recurrent severe abdominal pain. The disease is potentially fatal if the upper-airway is involved. Iatrogenic harm can occur if HAE is not considered in the differential diagnosis, the specialists are not aware of the natural history, diagnosis and treatment of HAE, or as a result of unnecessary surgical and other iatrogenic interventions. Read More

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October 2018
1 Read

Nine year follow-up of a rare case of angioedema due to acquired C1-inhibitor deficiency with late onset and good response to attenuated androgen.

Allergy Asthma Clin Immunol 2018 25;14:69. Epub 2018 Oct 25.

1Carol Davila University of Medicine and Pharmacy, Bulevardul Eroii Sanitari, no. 8, District 5, 050474 Bucharest, Romania.

Background: Angioedema due to acquired deficiency of C1-inhibitor (C1-INH-AAE) is a rare disease sharing some clinical and laboratory similarities with hereditary angioedema, but with late onset and no positive family history. The underlining cause may be malignant or due to autoimmune diseases, but some cases remain idiopathic.

Case Presentation: We report a case of a 75 year old woman suffering from recurrent episodes of angioedema since the age of 66, considered first induced by treatment with angiotensin-converting-enzyme inhibitors (ACEI). Read More

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October 2018
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Practicalities of a reduced volume formulation of a C1-INH concentrate for the treatment of hereditary angioedema: real-life experience.

Authors:
John Dempster

Allergy Asthma Clin Immunol 2018 25;14:44. Epub 2018 Oct 25.

Barts Health, Grahame Hayton Unit, Ambrose King Centre, The Royal London Hospital, Whitechapel, London, E1 1BB UK.

Background: Hereditary angioedema (HAE) due to C1 esterase inhibitor (C1-INH) deficiency is characterized by recurrent swelling attacks that can be life-threatening if left untreated. Prompt treatment is vital during acute attacks; plasma-derived C1-INH (Berinert) is one treatment currently licensed for the intravenous treatment of acute HAE attacks in adults, adolescents and children. A new, volume-reduced formulation, of C1-INH is currently available which aims to reduce the time to treatment, and provide greater convenience to patients and healthcare professionals. Read More

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October 2018
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Angioedema frequently occurs in cholinergic urticaria.

J Allergy Clin Immunol Pract 2018 Oct 25. Epub 2018 Oct 25.

Allergie-Centrum-Charité, Department of Dermatology and Allergy, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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October 2018
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