scholarly journals Diagnosis and treatment of hereditary angioedema with normal C1-inhibitor level

2020 ◽  
Vol 92 (12) ◽  
pp. 86-90
Author(s):  
A. V. Emelyanov ◽  
E. V. Leshenkova ◽  
G. A. Kameneva
Keyword(s):  
Hereditary Angioedema ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Treatment Options ◽  
Genetic Mutation ◽  
C1 Inhibitor ◽  
Short Term ◽  
Inhibitor Level ◽  
Life Threatening

Hereditary angioedema (HAE) with normal C1-inhibitor level is a rare potentially life-threatening disorder with autosomal dominant inheritance which was first described in 2000. Its clinical presentation is similar to HAE with C1-deficiency. The review is summarized data about its prevalence, mechanisms, genetics and diagnostic criteria. Different subtypes and treatment options (on demand, short term and long-term prophylaxis) are discussed. We describe family clinical cases of 2 female patients with normal C1-inhibitor and plasminogen gene mutation. Their features were late diagnosis (in 10 and 25 years after the onset of symptoms), family history (similar genetic mutation in 3 female members of the same family, including 1-asymtomatic) and combination of face, tongue, larynx and abdominal angioedema in patient and her sibling.

Hereditary Angioedema: Management of Laryngeal Attacks

2011 ◽  
Vol 25 (6) ◽  
pp. 379-382 ◽  
Author(s):  
Sandra C. Christiansen ◽  
Bruce L. Zuraw
Keyword(s):  
Hereditary Angioedema ◽  
Treatment Options ◽  
The United States ◽  
Fresh Frozen Plasma ◽  
C1 Inhibitor ◽  
Acute Therapy ◽  
Fresh Frozen ◽  
Life Threatening ◽  
Frozen Plasma ◽  
Future Management

Background Hereditary angioedema (HAE) patients suffering from laryngeal attacks in the United States faced severely limited treatment options until 2008. These potentially life-threatening episodes occur in over one-half of the patients affected by HAE during their lifetimes. Acute therapy had been relegated to supportive care, intubation, and consideration of fresh frozen plasma (FFP)–-the latter with the potential for actually accelerating the speed and severity of the swelling. Methods In this article we will review the recently approved and emerging HAE treatments that have evolved from the recognition that bradykinin generation is the fundamental abnormality leading to attacks of angioedema. Results Acute therapy for laryngeal attacks will be discussed including purified plasma–derived C1 inhibitor (C1INH), recombinant C1INH, an inhibitor of plasma kallikrein (ecallantide), and a B2 receptor antagonist (icatibant). Prophylactic care has also been transformed from a reliance on attenuated androgens with their attendant side effects to C1INH replacement. Conclusion The arrival of these novel therapies promises to transform the future management of HAE.

Short-term prophylaxis in hereditary angioedema due to deficiency of the C1-inhibitor - a long-term survey

Allergy ◽  
2012 ◽  
pp. n/a-n/a ◽  
Author(s):  
H. Farkas ◽  
Z. Zotter ◽  
D. Csuka ◽  
E. Szabó ◽  
Z. Nébenfűhrer ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Short Term ◽  
Short Term Prophylaxis ◽  
Long Term Survey

scholarly journals Pediatric hereditary angioedema: an update

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 1205 ◽  
Author(s):  
Geetika Sabharwal ◽  
Timothy Craig
Keyword(s):  
Hereditary Angioedema ◽  
Paradigm Shift ◽  
Prophylactic Treatment ◽  
Genetic Disorder ◽  
Treatment Options ◽  
C1 Inhibitor ◽  
Life Threatening

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.

scholarly journals Hereditary angioedema: a mother diagnosing her child using Google as a diagnostic aid

2018 ◽  
pp. bcr-2018-225825
Author(s):  
Thanusha Srikantharajah ◽  
Marianne Antonius Jakobsen ◽  
Anette Bygum
Keyword(s):  
Hereditary Angioedema ◽  
Autosomal Dominant ◽  
Accurate Diagnosis ◽  
Proper Treatment ◽  
C1 Inhibitor ◽  
C1 Inhibitor Deficiency ◽  
Diagnostic Aid ◽  
Life Threatening ◽  
Delays In Diagnosis ◽  
Skin Mucosa

Hereditary angioedema (HAE), due to C1-inhibitor deficiency, is a rare autosomal dominant and potentially life-threatening disease characterised by recurrent oedema attacks of skin, mucosa and viscera. Due to the rarity and the fact that symptoms of HAE imitate other forms of angioedema and other conditions, HAE may be misdiagnosed, especially in emergency settings. Consequently, patients with HAE may experience significant delays in diagnosis. Without an accurate diagnosis patients with HAE may not receive proper treatment. At times ’Doctor Google' may be an important tool in establishing the diagnosis. The aim of this case report is to emphasise the importance of listening to patients and relatives and being humble to ’Doctor Google'. Furthermore, the aim is to remind all healthcare personal of HAE and the importance of considering the rare differential diagnoses to common symptoms.

Individual Replacement Therapy (IRT) with a Pasteurized C1-Inhibitor Concentrate Compared to Prophylaxis with Danazol in Patients with Hereditary Angioedema (HAE) - a Prospective Study.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 1028-1028 ◽  
Author(s):  
Wolfhart Kreuz ◽  
Inmarculada Martinez-Saguer ◽  
Emel Aygoeren-Puersuen ◽  
Eva Rusicke ◽  
Thomas Klingebiel
Keyword(s):  
Quality Of Life ◽  
Side Effects ◽  
Replacement Therapy ◽  
Hereditary Angioedema ◽  
Parvovirus B19 ◽  
Laryngeal Edema ◽  
C1 Inhibitor ◽  
Life Threatening

Abstract Attenuated androgens like danazol are the current treatment of choice for long-term prophylaxis in patients with hereditary angioedema (HAE), who may experience life-threatening acute attacks. Unfortunately, this group of drugs bears the risk of severe side effects (e.g. depression, weight gain, hirsutism, transaminase elevations, liver adenoma and carcinoma, headaches, hypertension, menstrual abnormalities). Objectives: We therefore explored the option to administer a pasteurized, plasma-derived C1-Inhibitor concentrate (C1-INH, Berinert®P) for individual replacement therapy (IRT) in patients with HAE in whom danazol induced severe side effects, was not effective or was contraindicated (e.g. children, pregnant women). Methods: Prospective, observational, intra-individual cross over study, comparing efficacy, safety and quality of life of danazol (prophylaxis) vs. C1-INH (IRT) in 23 patients suffering from severe HAE. Results: Mean annual attack frequency decreased from 48.8 ± 37.1 (danazol) to 8.1 ± 22.1 (C1-INH); p<0.001. All patients who received pasteurized C1-INH were free of life threatening attacks (laryngeal edema) or adverse events, which did occur under long-term prophylaxis with danazol (Fig.). In addition, all quality of life parameters improved significantly; p<0.001. During the entire 20-year observation period with C1-INH in all patients there was no transmission of HIV type 1/2, hepatitis A-, B-, C-, G-viruses, or parvovirus B19. Conclusions: Compared to danazol, IRT with pasteurized C1-INH in patients with severe HAE significantly reduces the frequency of HAE attacks, especially of life-threatening attacks, and significantly improves the quality of life.

An Overview of Dementias

2012 ◽  
Vol 21 (3) ◽  
pp. 75-84
Author(s):  
Venkata Vijaya K. Dalai ◽  
Jason E. Childress ◽  
Paul E Schulz
Keyword(s):  
Clinical Presentation ◽  
Treatment Options ◽  
Current Treatment ◽  
Great Variability ◽  
Health Concern ◽  
Public Health Concern ◽  
Life Threatening ◽  
The Common ◽  
Neurodegenerative Dementias ◽  
Made In

Dementia is a major public health concern that afflicts an estimated 24.3 million people worldwide. Great strides are being made in order to better diagnose, prevent, and treat these disorders. Dementia is associated with multiple complications, some of which can be life-threatening, such as dysphagia. There is great variability between dementias in terms of when dysphagia and other swallowing disorders occur. In order to prepare the reader for the other articles in this publication discussing swallowing issues in depth, the authors of this article will provide a brief overview of the prevalence, risk factors, pathogenesis, clinical presentation, diagnosis, current treatment options, and implications for eating for the common forms of neurodegenerative dementias.

scholarly journals The Global Registry for Hereditary Angioedema due to C1-Inhibitor Deficiency

2021 ◽  
Author(s):  
Andrea Zanichelli ◽  
Henriette Farkas ◽  
Laurance Bouillet ◽  
Noemi Bara ◽  
Anastasios E. Germenis ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Rare Condition ◽  
C1 Inhibitor ◽  
C1 Inhibitor Deficiency ◽  
Therapeutic Decisions ◽  
Life Threatening ◽  
Enhance Patient Care ◽  
Electronic Support ◽  
The Impact ◽  
Global Registry

AbstractHereditary 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. The HAE Global Registry is a disease-specific registry, with web-based electronic support, where data are provided by physicians and patients through a dedicated application. We collected data between January 1, 2018, and August 31, 2020. Data on 1297 patients from 29 centers in 5 European countries were collected. At least one attack was recorded for 497 patients during the study period. Overall, 1182 patients were diagnosed with HAE type 1 and 115 with type 2. At the time of database lock, 389 patients were taking long-term prophylactic medication, 217 of which were on danazol. Most recorded attacks affected the abdomen, were generally moderate in severity, and occurred in patients who were not on prophylactic treatment (70.6%, 6244/8848). The median duration of attacks was 780 min (IQR 290–1740) in patients on prophylactic medication and 780 min (IQR 300–1920) in patients not on continuous prophylactic medication. In conclusion, the establishment of a registry for C1-INH-HAE allowed collection of a large amount of data that may help to better understand the clinical characteristics of this disease. This information may enhance patient care and guide future therapeutic decisions.

scholarly journals Symposium report: breast cancer in India—trends, environmental exposures and clinical implications

2021 ◽  
Vol 32 (6) ◽  
pp. 567-575
Author(s):  
Jasmine A. McDonald ◽  
Roshni Rao ◽  
Marley Gibbons ◽  
Rajiv Janardhanan ◽  
Surinder Jaswal ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Scientific Evidence ◽  
Treatment Options ◽  
Environmental Exposures ◽  
Population Based ◽  
Clinical Implications ◽  
Think Tank ◽  
Case Control Studies ◽  
Short Term

Abstract Purpose Incidence of breast cancer (BC), particularly in young women, are rising in India. Without population-based mammography screening, rising rates cannot be attributed to screening. Investigations are needed to understand the potential drivers of this trend. Methods An international team of experts convened to discuss the trends, environmental exposures, and clinical implications associated with BC in India and outlined recommendations for its management. Results Panels were structured across three major BC themes (n = 10 presentations). The symposium concluded with a semi-structured Think Tank designed to elicit short-term and long-term goals that could address the challenges of BC in India. Conclusion There was consensus that the prevalence of late-stage BC and the high BC mortality rates are associated with the practice of detection, which is primarily through clinical and self-breast exams, as opposed to mammography. Triple-Negative BC (TNBC) was extensively discussed, including TNBC etiology and potential risk factors, the limited treatment options, and if reported TNBC rates are supported by rigorous scientific evidence. The Think Tank session yielded long-term and short-term goals to further BC reduction in India and included more regional etiological studies on environmental exposures using existing India-based cohorts and case–control studies, standardization for molecular subtyping of BC cases, and improving the public’s awareness of breast health.

Hereditary angioedema: Differential diagnosis, diagnostic tests, and family screening

2020 ◽  
Vol 41 (6) ◽  
pp. S22-S25 ◽  
Author(s):  
Michael E. Manning
Keyword(s):  
Differential Diagnosis ◽  
Hereditary Angioedema ◽  
Diagnostic Tests ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Genetic Mutation ◽  
The Body ◽  
Laboratory Evaluation ◽  
Family Screening ◽  
Common Causes

Hereditary angioedema is a rare, autosomal dominant genetic disorder that leads to sporadic episodes of swelling, which can affect any part of the body. With a prevalence of 1 in 10,000 to 1 in 50,000, there are other, more common causes of angioedema. Differentiating between bradykinin-mediated and histamine-mediated causes of swelling remains a major challenge. It is critical to develop an appropriate differential diagnosis, work through the various conditions, and obtain the pertinent laboratory evaluation to rule in or out the proposed diagnosis. As an autosomal dominant genetic disorder, there is a 50% chance with each pregnancy of passing on the genetic mutation in the SERPING1 gene. This review addressed the differential diagnosis to consider, the appropriate laboratory evaluation, and the importance of family screening.

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