scholarly journals Hereditary Angioedema due to C1 Inhibitor Deficiency: C1-INH Replacement Therapy

2014 ◽  
Vol 5 (2) ◽  
pp. 55-66
Author(s):  
Mauro Cancian
Keyword(s):  
Replacement Therapy ◽  
Hereditary Angioedema ◽  
Rare Condition ◽  
Type I ◽  
Therapeutic Approaches ◽  
C1 Inhibitor Deficiency ◽  
Deep Tissue ◽  
Gene Encoding ◽  
The Face

Hereditary angioedema (HAE) is a rare condition affecting about 1 in 50.000 individuals and caused by a mutation in the gene encoding the C1-esterase inhibitor (C1-INH), which is involved in the control of complement, clotting, fibrinolytic and kinin pathways. HAE is characterized by plasma outflow from blood vessels, leading to fluid collecting (edema) in the deep tissue layers of the face, larynx, abdomen, and extremities. Three different types of HAE have been identified: in type I the mutation leads to the lack of production of C1-INH, in type II the mutation leads to the production of dysfunctional C1-INH, while type III is extremely rare and still not fully understood. Therapeutic approaches for HAE include on-demand treatments to stop angioedema attacks and prophylactic treatment to prevent attacks both by pre-procedural (short-term) and routine (long-term) prophylaxis. Aim of the present review is to present an overview of C1-INH replacement therapy with the plasma-derived concentrate of C1-INH Berinert® (CSL Behring GmbH) in the treatment of type I and II HAE.

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 Outcomes of long term treatments of type I hereditary angioedema in a Turkish family

2017 ◽  
Vol 92 (5) ◽  
pp. 655-660 ◽  
Author(s):  
Gulsen Akoglu ◽  
Belgin Kesim ◽  
Gokhan Yildiz ◽  
Ahmet Metin
Keyword(s):  
Hereditary Angioedema ◽  
Type I ◽  
Turkish Family

Long-Term Survival on Renal Replacement Therapy for Primary Hyperoxaluria Type I

Nephron ◽  
1993 ◽  
Vol 63 (2) ◽  
pp. 217-221 ◽  
Author(s):  
P. Calzavara ◽  
M. Marangelld ◽  
M. Petrarulo ◽  
P. Ballanti ◽  
E. Bonucci ◽  
...  
Keyword(s):  
Renal Replacement Therapy ◽  
Replacement Therapy ◽  
Primary Hyperoxaluria ◽  
Type I ◽  
Term Survival ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type I ◽  
Primary Hyperoxaluria Type I ◽  
Hyperoxaluria Type

scholarly journals Molecular genetic diagnosis of hereditary angioedema

2021 ◽  
Vol 18 (1) ◽  
pp. 25-35
Author(s):  
I. E. Guryanova ◽  
Yu. S. Zharankova ◽  
E. A. Polyakova ◽  
V. V. Pugacheva ◽  
K. Ya. Skapavets ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Unknown Origin ◽  
Normal Activity ◽  
Type I ◽  
Factor Xii ◽  
C1 Inhibitor Deficiency ◽  
Serping1 Gene ◽  
Deficiency Type

Hereditary angioedema (HAE) is a rare genetic condition currently subdivided into two groups: HAE due to C1-inhibitor deficiency (Type I) or dysfunction (Type II) (C1-INH-HAE) and HAE with normal activity of C1‐INH (nC1- INH-HAE). C1-INH-HAE is estimated to occur in approximately 99 % of cases HAE and is caused by sequence variants in the SERPING1 gene. The prevalence of nC1-INH-HAE is extremely low and accounts for about 1 % of all cases of HAE. nC1-INH-HAE currently subdivided on HAE, due to mutations in factor XII (FXII-HAE), plasminogen (PLG-HAE), angiopoietin 1 (ANGPT1-HAE), kininogen 1 gene (KNG1-HAE), or angioedema of unknown origin (U-HAE).The amplicons of the entire coding regions and splice-sites of 18 genes from 24 patients (18 female) belonging to 17 families were analyzed by Next Generation Sequencing (NGS). The median age of patients was 33.5, of onset ‒ 16 years. 15 patients had a family history of edema.We identified seven C1-INH-HAE patients and variants were detected in the SERPING1 gene. For three patients (members of the same family), a heterozygous variant was found deep in the intron of the SERPING1 gene, which is likely to affect protein synthesis. We identified two patients with changes in the PLAUR gene, which may be associated with the manifestation of symptoms angioedema. Six patients showed abnormalities in the genes AGT and KNG1, which can probably explain their early hypertension, which could provoke the appearance of edema.

scholarly journals Long-Term Outcomes with Subcutaneous C1-Inhibitor Replacement Therapy for Prevention of Hereditary Angioedema Attacks

2019 ◽  
Vol 7 (6) ◽  
pp. 1793-1802.e2 ◽  
Author(s):  
Timothy Craig ◽  
Bruce Zuraw ◽  
Hilary Longhurst ◽  
Marco Cicardi ◽  
Konrad Bork ◽  
...  
Keyword(s):  
Replacement Therapy ◽  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Long Term Outcomes

scholarly journals Management of Patients with Hereditary Angioedema During the COVID-19 Pandemic

2021 ◽  
Vol 19 (3) ◽  
pp. 166-173
Author(s):  
Eray YILDIZ ◽  
Şevket ARSLAN ◽  
Fatih ÇÖLKESEN ◽  
Filiz Sadi AYKAN ◽  
Recep EVCEN ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Clinical Symptoms ◽  
Type I ◽  
Type Ii ◽  
Kinin System ◽  
Beneficial Effects ◽  
Phone Calls ◽  
History Of ◽  
Kallikrein Kinin System

Objective: The aim of this study was to determine the clinical course and treatment outcomes of patients with hereditary angioedema (HAE) after infection with coronavirus disease 2019 (COVID-19). Materials and Methods: Thirty-nine patients with HAE were included in this study. These patients were regularly followed up over phone calls since the first COVID-19 case was seen in our country. Patients were asked to visit the hospital if there was a history of contact with a confirmed COVID-19 patient or if the patient developed clinical symptoms of COVID-19.Results: There were 21 (54%) patients with type I HAE, and 18 (46%) with type II HAE. All patients received treatment for angioedema attacks (C1-inhibitor [C1-INH], icatibant), and seven (20%) received long-term prophylaxis (danazol). Treatment for attacks was continued for all patients during the pandemic. Patients taking danazol were switched to long-term prophylaxis using the C1-INH concentrate. Eleven (28%) patients with HAE developed COVID-19 during this study. Only one patient had severe COVID-19. Six patients (54.5%) were diagnosed with type II HAE, and five (45.5%) were diagnosed with type I HAE. The most common COVID-19 symptoms were fever (7/11; 64%) and myalgia (6/11; 55%). Mild angioedema attacks were experienced by 36% (4/11) of the HAE patients diagnosed with COVID-19. Icatibant was used in all patients.Conclusion: Agents used for HAE block the kallikrein-kinin system and may be useful in the treatment of COVID-19. Considering their beneficial effects on COVID-19, it is recommended that HAE patients should continue the use of agents blocking the kallikrein-kinin system. Keywords: COVID-19, hereditary angioedema, kallikrein-kinin system, bradykinin, C1-INH

scholarly journals Takayasu’s aortoarteritis

2005 ◽  
Vol 52 (3) ◽  
pp. 95-98 ◽  
Author(s):  
Lazar Davidovic ◽  
R. Sindjelic ◽  
Z. Jovanovic ◽  
V. Bozic ◽  
D. Markovic
Keyword(s):  
Vascular Graft ◽  
Complex Disease ◽  
Far East ◽  
Proximal Part ◽  
Long Term Results ◽  
Type I ◽  
Therapeutic Approaches ◽  
Arterial Lesions

Surgical treatment of two female patients aged 32 and 41 years, with neurological problems causes by type I Takayasu?s aortoarteritis, are presented here. both of them were treated with by pass from ascending aorta to left common carotid and left subclavian arteries, using transsternal approach. During the follow up period (3.5 years for the first, and 2 years for the second patient) both patients were free of neurological symptoms. Corticosteroid therapy was given to the first patient for controlling of active diseases, immediately after the operation and during the first three postoperative months. By this reason an infection at the proximal part of sternal wound was developed. MRI showed involvement of the vascular graft. Due to high risk of reoperation, medical treatment was performed. Takayasu?s aortoarteritis is very uncommon in our country, as well as in other countries which don?t belong to Far East. In cases with hemodinamic important arterial lesions produced disabling symptoms, a standard PTA and reconstructive vascular procedures are indicated. Takayasu?s aortoarteritis is a complex disease. It requires combined diagnostic and therapeutic approaches which produce satisfied long-term results.

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