There is a rare genetic disorder in our lives that may not be well known to the general public, but it can place a deep burden on patients and families: hereditary angioedema. In this episode, we will take a deep dive into this disease and take you to understand its symptoms, causes, diagnosis and treatment.
Online big doctor: Zou Ying
Department of Dermatology, The First Affiliated Hospital of Fujian Medical University
Doctor of Medicine, Deputy Chief Physician
Topic of this issue: World Hereditary Angioedema Day Science Popularization
What is hereditary angioedema
Hereditary angioedema is a relatively rare condition.
In simple terms, it is a condition that causes sudden swelling of certain parts of the body, such as limbs, face, genitals, etc. This swelling is not an ordinary swelling, it can be severe and usually recurrent.
Symptoms of hereditary angioedema
The main manifestation is recurrent cutaneous and submucosal edema. This type of edema is episodic, localized, self-limited, asymmetrical, and non-pitting, generally not itchy, and not accompanied by urticaria.
Edema can last for 2 to 3 days and can affect any part of the body, especially the mucous membranes of the limbs, face, genitals, respiratory tract, and gastrointestinal tract. In severe cases, laryngeal edema may cause asphyxia, while gastrointestinal edema may cause symptoms of acute intestinal obstruction.
Causes of hereditary angioedema
The causes of hereditary angioedema are mainly genetic. It can be understood that there is a problem with the genes in the body that are responsible for regulating some physiological processes. Because of the abnormality of this gene, the production or function of certain substances in the body is not normal. These substances are originally used to control the permeability of blood vessels, and when they are abnormal, they are easy to let some fluid run into the tissues, resulting in swelling.
It's as if a "little switch" in the body is broken, triggering a series of abnormal reactions that eventually lead to this special, recurring swelling. And this genetic problem is inherited from the parents, so it is called hereditary angioedema.
How hereditary angioedema is diagnosed
Typical clinical findings include laboratory tests (eg, decreased CH50 and C4 levels on complement studies, abnormal C1 inhibitor concentrations and function), family history, and histopathological examination. It is important to note that the absence of a family history does not exclude the diagnosis, as nearly 25% of patients may be due to spontaneous mutations.
How hereditary angioedema is treated
At present, there is no cure for hereditary angioedema, but the progression of the disease can be controlled with measures such as medication and surgery. In the acute exacerbation phase, C1 inhibitor biologics are available in Europe for rapid symptom relief. Long-term prophylaxis is often treated with drugs such as danazol. At the same time, patients should avoid precipitating factors, such as minor trauma, intraoral procedures, and mood changes.
How to prevent hereditary angioedema
For the prevention of hereditary angioedema, the main focus is on avoiding predisposing factors, and doing a good job of prenatal counseling and genetic disease screening to reduce the risk of having children.
Disclaimer
This article aims to popularize health science, to help you understand diseases and medications, the content of popular science can not replace the doctor's diagnosis and treatment opinions, for reference only, if you have related health problems, please consult a doctor in time.
Introduced by the doctor
Zou Ying
Deputy Chief Physician of the Department of Dermatology, The First Affiliated Hospital of Fujian Medical University, Deputy Director of the Allergy Center of the First Affiliated Hospital of Fujian Medical University, Deputy Director of the Institute of Dermatology of Fujian Medical University, Member of the Youth Committee of the Dermatology Branch of the Chinese Medical Doctor Association, Member of the Youth Group of the 7th Committee of the Allergy Branch of the Chinese Medical Association, Standing Member of the Standing Committee of the 10th Committee of the Dermatology Branch of the Fujian Medical Association, Secretary of the Standing Committee of the 3rd Committee of the Allergy Branch of the Fujian Medical Association, Chinese General Practice He is a member of the second youth editorial board of the editorial board, and has presided over and participated in a number of national and provincial projects, with the main research directions of atopic dermatitis and allergic skin diseases.