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: an update on causes, manifestations and treatment

2019 ◽  
Vol 80 (7) ◽  
pp. 391-398 ◽  
Author(s):  
Hilary J Longhurst ◽  
Konrad Bork
Keyword(s):  
Quality Of Life ◽  
Hereditary Angioedema ◽  
Genetic Disorder ◽  
Treatment Options ◽  
Correct Diagnosis ◽  
Self Administration ◽  
Diagnosis And Management ◽  
Life Threatening ◽  
Short And Long Term

Hereditary angioedema is a rare genetic disorder caused by deficiency of C1 esterase inhibitor (C1-INH) and characterized by recurrent episodes of severe swelling that affect the limbs, face, intestinal tract and airway. Since laryngeal oedema can be life-threatening as a result of asphyxiation, correct diagnosis and management of hereditary angioedema is vital. Hereditary angioedema attacks are mediated by bradykinin, the production of which is regulated by C1-INH. Hereditary angioedema therapy relies on treatment of acute attacks, and short- and long-term prophylaxis. Acute treatment options include C1-INH concentrate, icatibant and ecallantide. Self-administration of treatment is recommended and is associated with increased quality of life of patients with hereditary angioedema. Advances in diagnosis and management have improved the outcomes and quality of life of patients with hereditary angioedema.

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.

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.

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 Anesthetic Management of a Patient With Hereditary Angioedema for Oral Surgery

2019 ◽  
Vol 66 (1) ◽  
pp. 30-32
Author(s):  
Rumiko Hosokawa ◽  
Masanori Tsukamoto ◽  
Saki Nagano ◽  
Takeshi Yokoyama
Keyword(s):  
Hereditary Angioedema ◽  
Tooth Extraction ◽  
Dental Treatment ◽  
Oral Surgery ◽  
Anesthetic Management ◽  
Treatment Options ◽  
Third Molar ◽  
Intravenous Sedation ◽  
C1 Inhibitor ◽  
Impacted Third Molar

Hereditary angioedema (HAE) is a rare genetic disease that results from deficiency or dysfunction of C1 inhibitor (C1-INH). This disease is characterized by sudden attacks of angioedema. When edema occurs in the pharynx or larynx, it can lead to serious airway compromise, including death. Physical and/or psychological stress can trigger an attack. Dental treatment, including tooth extraction, is also a recognized trigger. We report a case of a 20-year-old male with HAE who required impacted third molar extractions. C1-INH concentrate was administered 1 hour before surgery, which was completed under deep intravenous sedation. This report describes the anesthetic management of a patient with HAE and reviews treatment options and concerns.

scholarly journals Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Michelle Fog Andersen ◽  
Anette Bygum
Keyword(s):  
Idiopathic Thrombocytopenic Purpura ◽  
Hereditary Angioedema ◽  
Care Setting ◽  
Autosomal Dominant ◽  
Bleeding Episode ◽  
Genetic Disorder ◽  
Acute Attack ◽  
Autosomal Dominant Trait ◽  
Thrombocytopenic Purpura ◽  
Life Threatening

Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack of hereditary angioedema. The case illustrates how clinicians can have difficulties in handling patients with rare diseases, especially in the emergency care setting.

Current treatment options for hereditary angioedema due to C1 inhibitor deficiency

2015 ◽  
Vol 17 (1) ◽  
pp. 27-40 ◽  
Author(s):  
Maddalena Alessandra Wu ◽  
Andrea Zanichelli ◽  
Marta Mansi ◽  
Marco Cicardi
Keyword(s):  
Hereditary Angioedema ◽  
Treatment Options ◽  
Current Treatment ◽  
C1 Inhibitor ◽  
C1 Inhibitor Deficiency

scholarly journals Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ying-Yang Xu ◽  
Jian-Qing Gu ◽  
Yu-Xiang Zhi
Keyword(s):  
Mrna Expression ◽  
Hereditary Angioedema ◽  
Stop Codon ◽  
Genetic Disorder ◽  
Premature Stop Codon ◽  
C1 Inhibitor ◽  
Serping1 Gene ◽  
Central Loop

Abstract Background Hereditary angioedema with deficient and dysfunctional C1 inhibitor (C1-INH-HAE) is a rare genetic disorder. The majority of the cases with this disease are caused by mutations in the C1-inbitor gene SERPING1 and are classified as type 1 and type 2. We aimed to detect mutations in the SERPING1 gene and evaluate its expression in nine probands with hereditary angioedema from nine different families. Methods Nine probands with hereditary angioedema from nine different families and 53 healthy controls were recruited in this study. All eight exons and intron–exon boundaries in the SERPING1 gene were amplified by PCR and then sequenced. Mutations were identified by alignment with reference sequences. mRNA expression was measured by real-time PCR. Results All probands were diagnosed with HAE type 1. Nine mutations were found in nine patients: c.44delT, c.289C<T, c.296_303delCCATCCAA, c.538C<T, c.786_787insT, c.794 G < A, c.939delT, c.1214_1223delCCAGCCAGGA, and c.1279delC. All mutations formed a premature stop codon that might lead to the impaired synthesis of C1 inhibitor and result in the deficiency of this protein. None of the detected mutations were observed in the controls. In the C1-INH-HAE group, SERPING1 mRNA expression was significantly reduced (20% of the normal average level) compared to controls. Conclusions Three known and six novel mutations in the SERPING1 gene were identified, and they produced a truncated nonfunctional C1 inhibitor without a reactive central loop. All the mutations led to reduced expression of SERPING1 mRNA in peripheral blood and low antigenic C1 inhibitor levels.

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