What Is Hereditary Angioneurotic Edema?

Hereditary angioedema, English name hereditaryangioneuroticedema, some regulatory proteins in the plasma regulate the complement system activity. Their defects can cause corresponding clinical symptoms. C1 inhibitor (C1INH) deficiency can cause hereditary angioedema.

Hereditary angioedema

This entry lacks an overview map . Supplementing related content makes the entry more complete and can be upgraded quickly. Come on!

Hereditary angioedema, English name hereditaryangioneuroticedema, some regulatory proteins in the plasma regulate the complement system activity. Their defects can cause corresponding clinical symptoms. C1 inhibitor (C1INH) deficiency can cause hereditary angioedema.

Chinese name

Hereditary angioedema

Foreign name

hereditaryangioneuroticedema

Defect

Can produce corresponding clinical symptoms

Blood plasma

Regulatory proteins regulate complement system activity

Hereditary angioedema English name: hereditaryangioneuroticedema Alias: Overview: Some regulatory proteins in the plasma regulate the activity of the complement system. Their defects can cause corresponding clinical symptoms. C1 inhibitor (C1INH) deficiency can cause hereditary angioedema. The C1INH concentration in 85% of patients was reduced to normal 5% to 30% (type I); another 15% of patients had normal or increased levels of C1INH immune cross-reactive protein in plasma, but had no function (type II). Both types are autosomal dominant and clinical manifestations cannot be distinguished. 10% of the probands were spontaneous mutations. In type I cases, defective proteins and / or mRNA inhibit normal C1INH transcription. In type II, most of the arginine in the C1INH critical response region is mutated. Epidemiology: This disease is the most common disorder of plasma complement regulatory components, accounting for more than 50%

It is autosomal dominant. C1INH mRNA transcription was inhibited (type I), and serum C1INH concentration decreased; in some patients, arginine in the C1INH critical response region was mutated, and normal or elevated levels of C1INH were present in plasma but were nonfunctional (type II). A small number of probands are the pathogenesis of spontaneous mutations: Decreased C1INH concentration and defective C1INH function make C1 activation lead to uncontrolled activation of C1s, C4 and C2, release vasoactive peptides and kallikreins, and bradykinin also increase. Due to the vasodilation effect of kallikrein on the posterior capillaries, the non-depressive edema typical of episodic localization is the mechanism of C1 activation in these individuals. "";

C4 and C2 decreased, and serum complement titers decreased significantly. C1INH is detectable, but 15% of patients are negative. Because C1 has an esterase effect, C1INH deficiency can be specifically diagnosed by increasing the ability of a patient's serum to hydrolyze esters. Other auxiliary examinations: chest X-ray examination if necessary. Related checks:> C4

The localized edema of the subcutaneous tissue, gastrointestinal tract, and upper respiratory tract is not concave, and the affected area swells quickly, without urticaria, itching, redness of the skin, and generally no pain. Edema can also occur at the injury site after strenuous exercise. Intestinal cramps due to swelling of the intestinal wall, vomiting or diarrhea, and subcutaneous edema are rare. Fatal laryngeal edema can also occur. The onset lasted 2 to 3 days and gradually subsided. It can develop in the first 2 years after birth, but it is usually severe in older children or adolescence. Complications: Intestinal spasm can be complicated by fatal laryngeal edema. Diagnosis: The diagnosis can be confirmed according to the characteristics of clinical manifestations and laboratory examinations. C1INH deficiency is a specific diagnostic indicator. Differential diagnosis: Some patients with SLE are associated with hereditary angioedema, which should be distinguished; laryngeal edema is distinguished from acute laryngitis; intestinal spasm is differentiated from acute abdomen.

Treatment: To avoid inducing factors such as injury, it is advisable to give fresh plasma prophylactically during surgical or dental surgery. The use of C1INH can be used for treatment and long-term prevention. It is still in the experimental research stage. The semi-synthetic androgen danazol is used for the prevention of acute attacks, which can increase the serum C1INH level. The mechanism is still unclear. Children should be cautious with aminocaproic acid for prevention. Reduce accordingly. Aminocaproic acid can cause severe myopathy, and the minimum effective dose should be used. Injection of pethidine can reduce abdominal pain. In acute episodes, 0.01ml / kg epinephrine and antihistamines can be used to eliminate edema and glucocorticoids have no effect.

Prognosis: Most pediatric patients do not have a serious adult disease but can die from fatal laryngeal edema, which can gradually relieve after 40 years of age. Prevention: 1. Maternal health care It is known that the occurrence of some immunodeficiency diseases is closely related to embryonic dysplasia. If a pregnant woman is exposed to radiation, treated with certain chemicals or a viral infection (especially rubella virus infection), etc., it can damage the immune system of the fetus, especially in the first trimester, and can make multiple systems including the immune system Affected. Therefore, it is very important to strengthen the health care of pregnant women, especially in the first trimester. Pregnant women should avoid receiving radiation, and be cautious with some chemicals to inject rubella vaccine, etc. to prevent virus infection as much as possible. It is also necessary to strengthen the nutrition of pregnant women and treat some chronic diseases in a timely manner. 2. Genetic counseling and family survey Although most of the diseases cannot be determined by genetic methods, genetic counseling for diseases that have identified genetic methods is of great value. If an adult has an inherited immunodeficiency disease, it will provide the developmental risk of their children. If a child has an autosomal recessive inheritance or sexually linked immunodeficiency disease, tell the parents how likely they are to have the next child. How big. Immediate family members of patients with antibody or complement deficiency should check the antibody and complement levels to determine the family disease pattern. For certain diseases that can be genetically mapped, such as chronic granulomatous disease, parents, siblings and their children should be tested for genetic mapping. If a patient is found, it should also be checked in his or her family members. The patient's child should carefully observe the occurrence of the disease from the beginning of birth. 3. Prenatal diagnosis: Some immunodeficiency diseases can be diagnosed prenatally. For example, enzymological examination of cultured amniotic fluid cells can diagnose adenosine deaminase deficiency, nucleoside phosphorylase deficiency, and certain combined immunodeficiency diseases. Fetus Blood cell immunology tests can diagnose CGD, X-linked agammaglobulinemia, and severe combined immunodeficiency diseases, thereby terminating pregnancy and preventing the birth of children. It is very important to reduce the incidence of hereditary angioedema with early diagnosis and specific treatment and genetic counseling (prenatal diagnosis and even intrauterine treatment).