As a recognized rare and highly fatal disease, hereditary angioedema (HAE) is difficult to diagnose and characterized by recurrent edema involving the head, limbs, genitals and larynx, etc. Diagnosis of HAE is not difficult. However, low incidence and lack of clinical characteristics lead to difficulty of doctors on timely diagnosis and correct intervention for HAE patients. Therefore, it is crucial to improve the awareness of this disease and prevent its recurrence. for HAE patients. In view of absent cognition of doctors and the general public on HAE, patients often suffer from sudden death or become disabled due to laryngeal edema which cannot be treated in time. Thus, based on the Internet mobile terminal platform, the team set up an all-day rapid emergency response system which is provided for HAE patients by setting up "one-click help". The aim is to offer optimization on overall management of HAE and designed the intelligent follow-up management to provide timely assistance and specialized suggestion for patients with acute attacks.
Humans ; Angioedemas, Hereditary/drug therapy*

As a recognized rare and highly fatal disease, hereditary angioedema (HAE) is difficult to diagnose and characterized by recurrent edema involving the head, limbs, genitals and larynx, etc. Diagnosis of HAE is not difficult. However, low incidence and lack of clinical characteristics lead to difficulty of doctors on timely diagnosis and correct intervention for HAE patients. Therefore, it is crucial to improve the awareness of this disease and prevent its recurrence. for HAE patients. In view of absent cognition of doctors and the general public on HAE, patients often suffer from sudden death or become disabled due to laryngeal edema which cannot be treated in time. Thus, based on the Internet mobile terminal platform, the team set up an all-day rapid emergency response system which is provided for HAE patients by setting up "one-click help". The aim is to offer optimization on overall management of HAE and designed the intelligent follow-up management to provide timely assistance and specialized suggestion for patients with acute attacks.
Humans ; Angioedemas, Hereditary/drug therapy*

Objective: To diagnose a large family of patients with hereditary angioedema, and to study its inheritance pattern and gene locus. Methods: A retrospective analysis was carried out from August 2021 to February 2022 in a proband (female, 48 years old) and 12 family members who underwent medical history collection and laboratory examinations in the Department of Otorhinolaryngology and Head and Neck Surgery, the Second Hospital of Shanxi Medical University. The clinical data of members and non-affected members [including 7 males and 5 females, aged 12-78 (median 24) years old], were drawn a family map while confirming the diagnosis. Whole exome sequencing technology was used to detect the genetic sequence of the proband and to verify its family members to map the genetic pedigree of the mutation. Results: The inheritance pattern of the family was autosomal dominant, and 8 members of the family were diagnosed with hereditary angioedema by laboratory examination, including 7 cases of type I and 1 case of type Ⅱ. Whole exome sequencing analysis was performed on 2 patients with 2 phenotypes, and it was found that they both carried the same pathogenic mutation locus, which was c.890-2A>G. The family members were verified by next-generation sequencing, and it was found that all members of the family who had a history of edema contained this mutation site, while the younger brother of the proband who had no history of edema did not have this mutation. Conclusion: Both type Ⅰ and type Ⅱ phenotypes are present in this hereditary angioedema family, and the mutation of SERPING1 gene c.890-2A>G causes the onset of each patient in this family.
Angioedemas, Hereditary/genetics* ; Asian People ; Female ; Humans ; Male ; Mutation ; Pedigree ; Retrospective Studies

Hereditary angioedema is a disease of congenital deficiency or functional defect in the C1 esterase inhibitor (C1-INH) consequent to mutation in the SERPING1 gene, which encodes C1-INH. This disease manifests as recurrent, non-pitting, non-pruritic subcutaneous, or submucosal edema as well as an erythematous rash in some cases. These symptoms result from the uncontrolled localized production of bradykinin. The most commonly affected sites are the extremities, face, gastrointestinal tract, and respiratory system. When the respiratory system is affected by hereditary angioedema, swelling of the airway can restrict breathing and lead to life-threatening obstruction. Herein, we report a case of a 24-year-old woman with type 2 hereditary angioedema who presented with recurrent episodic abdominal pain and swelling of the extremities. She had no family history of angioedema. Although her C4 level was markedly decreased (3.40 mg/dL; normal range: 10-40 mg/dL), she presented with a very high C1-INH level (81.0 mg/dL; normal range: 21.0-39.0 mg/dL) and abnormally low C1-INH activity (less than 25%; normal range: 70%-130%). The SERPING1 gene mutation was confirmed in this patient. She was treated with prophylactic tranexamic acid, as needed, and subsequently reported fewer and less severe episodes. To our knowledge, this is the first reported case of type 2 hereditary angioedema in Korea that was consequent to SERPING1 mutation and involved a significantly elevated level of C1-INH as well as a low level of C1-INH activity.
Abdominal Pain ; Angioedema ; Angioedemas, Hereditary* ; Bradykinin ; Complement C1 Inhibitor Protein ; Edema ; Exanthema ; Extremities ; Female ; Gastrointestinal Tract ; Humans ; Korea ; Reference Values ; Respiration ; Respiratory System ; Tranexamic Acid ; Young Adult

No abstract available.
Angioedema* ; Angioedemas, Hereditary* ; Humans ; Omalizumab*

PURPOSE: Hereditary angioedema is a familial disease which is caused by a genetic deficiency or functional defect of the C1 inhibitor, and it features episodic swelling that can affect any part of the body. A great number of patients are estimated not to have an accurate diagnosis after the onset of symptoms, and close attention is required because sudden hereditary angioedema attacks can result in even death. METHODS: We sent an e-mail questionnaire to 975 members of the Korean Academy of Asthma, Allergy and Clinical Immunology. A total of 82 members replied. The questionnaire, including 15 questions about the diagnosis and management of hereditary angioedema, was developed by the anaphylaxis/urticaria, angioedema workgroup of the Korean Academy of Asthma, Allergy and Clinical Immunology. RESULTS: Forty-two percent of the respondents had experience with treatment of a suspected case of hereditary angioedema, and 15.9% made a confirmed diagnosis of hereditary angioedema. When the respondents suspected of cases, 91.4% of them performed tests for C3 and C4 concentrations and C1 inhibitor level. For maintenance treatment, most of the respondents used androgen, and only 22% found that C1 inhibitor concentrates can be prescribed through the Korea Orphan Drug Center in Korea. CONCLUSION: Allergy physicians in Korea substantially recognized the correct diagnosis and treatment of hereditary angioedema. However, there was a lack of awareness for the latest treatments, such as C1 inhibitor concentrates. Education of doctors and the public is needed.
Allergy and Immunology ; Angioedema ; Angioedemas, Hereditary* ; Asthma ; Surveys and Questionnaires ; Diagnosis ; Disease Management ; Education ; Electronic Mail ; Humans ; Hypersensitivity ; Korea ; Orphan Drug Production ; Surveys and Questionnaires

Hereditary angioedema (HAE) is a rare autosomal dominant disease that usually occurs in adolescence and early adulthood. It is characterized by recurrent non-pitting edema involving the skin and intestinal tract, especially the extremities and face. It is not associated with urticaria and pruritus. The cause is known to be the deficiency of C1 inhibitor. We herein report a 7-year-old girl with HAE who had recurrent episodes of swelling of the extremities and face without urticaria and pruritus. Her great grandmother had suffered from the same symptoms. The level of serum C4 was 8.01 mg/dL (normal: 10-40 mg/dL). The level of C1 inhibitor was 5.0 mg/dL (normal: 18-40 mg/dL). To our knowledge, this is the first pediatric case with typical clinical symptoms of HAE and C1 esterase inhibitor deficiency in Korea.
Adolescent ; Angioedema ; Angioedemas, Hereditary ; Complement C1 Inhibitor Protein ; Edema ; Extremities ; Humans ; Korea ; Pruritus ; Skin ; Urticaria

Hereditary angioneurotic laryngeal edema (HALE) is an autosomal dominant hereditary disease in which there is a decrease or defect in the C1 inhibitor (C1-INH). The pathophysiology of HALE is characterized by recurrent spontaneous episodes of transient edema of the laryngeal mucose and submucosal tissue with remission at irregular. Patients may die because of a life-threatening acute upper airway obstruction caused by laryngeal edema. HALE was diagnosed on the clinical symptoms, family history, and markedly decreased serum C1-INH activity and C1-INH protein.
Angioedemas, Hereditary ; diagnosis ; Complement C1 Inactivator Proteins ; analysis ; metabolism ; Complement C1 Inhibitor Protein ; Humans ; Laryngeal Edema ; diagnosis ; Recurrence

Hereditary angioedema (HAE) is rare disorder due to C1-inhibitor deficiency (C1-INH) that are debilitating and may be life-threatening. HAE is a lack of consensus concerning diagnosis, therapy, and management, particularly in Vietnam. In this case report, we report a 40-year-old male patient with typical clinical symptoms and family history but he showed normal C4 level, and we could not measure C1q and C1-INH level. However, the diagnosis of HAE can be made based on typical clinical symptoms and the favorable prophylactic response to danazol treatment. Based on these findings, we suggest that he has type I HAE, although he showed normal C4 level.
Adult ; Angioedemas, Hereditary ; Consensus ; Danazol ; Humans ; Male ; Vietnam

OBJECTIVETo determine the safety and efficacy of fresh frozen plasma (FFP) infusion for the treatment of hereditary angioedema (HAE).

METHODSThe medical records of patients with HAE admitted to Peking Union Medical College Hospital who had received FFP infusion during 2004 and 2010 were reviewed and PubMed database from 1966 to the present were searched using the following hereditary angioedema and fresh frozen plasma. The patient's age, sex, body location of HAE attacks, the dose of FFP infusion, time of beginning to improvement, time to complete remission, complication, C1 inhibitor activity, and outcome were analyzed.

RESULTSA total of 13 enrolled patients (7 male and 6 female) received 16 times of FFP infusion, including 2 patients undergoing FFP infusion in Peking Union Medical College Hospital and 11 patients reported in the literature. The mean dosage of FFP infusion was 586∓337 mL. Two cases suffered from worsening abdominal pain and one case experienced skin rash. Only 1 patient had no improvement in symptom owing to transfusion related reaction. There was a definite improvement in symptom 49∓19 minutes after beginning FFP infusion. The remission time decreased from 61.7∓27.0 hours to 3.3 (2.0, 12.0) hours after FFP infusion. FFP infusion was effective for both type I and type II HAE.

CONCLUSIONFFP seems to be safe and effective for acute attacks of HAE.

Acute-Phase Reaction ; therapy ; Adolescent ; Adult ; Aged ; Angioedemas, Hereditary ; blood ; therapy ; Blood Transfusion ; methods ; Child ; Female ; Humans ; Male ; Middle Aged ; Plasma ; physiology ; Retrospective Studies ; Transfusion Reaction ; Treatment Outcome ; Young Adult