Everyone needs to know about HAE (hereditary angioedema). Hereditary angioedema

Determination of the level of C1 esterase inhibitor is used in the diagnosis of hereditary angioedema. The majority (85%) of patients are characterized by a decrease in the total amount of C1 esterase inhibitor; the remaining 15% experience a decrease in the functional activity of this protein.

Determination of C1 esterase inhibitor is based on the specific interaction between polyclonal antibodies to C1 esterase inhibitor antiserum and the corresponding antigen at optimal pH in the presence of PEG. The turbidity of the solution resulting from the formation of the complex is directly proportional to the concentration of C1 esterase inhibitor in the sample.

How to prepare for the C1 esterase inhibitor test?

Whey on an empty stomach.

Material for donating C1 esterase inhibitor

Serum, plasma (EDTA).

Lead time for C1 esterase inhibitor

Decreases in the norm are observed in the following diseases: C1 esterase inhibitor

Reducing inhibitor levels C1-esterase and a2-neuraminoglycoprotein occurs in hereditary agioneurotic edema (giant urticaria). Proteid inhibits the activity of esterase, a component of complement designated C1.

Esterase activity increases sharply during an attack, which causes an increase in capillary permeability. The disease can be caused by at least two different genetic defects: one with a decrease in the level of the C1-esterase inhibitor, and the other with the synthesis of an inhibitor protein with an altered structure.

Fresh frozen plasma transfusion may be effective if performed during the acute phase of edema and/or abdominal pain. The patients appear to be heterozygotes and the observed fluctuations in the inhibitor level manifest themselves in the form of episodic edema. Homozygous individuals with this disease are unknown. Complement deficiency. A large number of patients with varying degrees of complement deficiency have been described.

Transcobalamin II deficiency

Vitamin B 12 is bound by two different whey proteins. Deficiency of one of them, transcobalamin I (a-globulin), was observed in two siblings who had no visible clinical or hematological changes. Deficiency of another protein, transcobalamin II (β-globulin), has been identified in some children with severe megaloblastic anemia, as well as in children with neurological symptoms.

No changes were found in the reactions occurring with the participation of the coenzyme form of vitamin B 12, homocysteine methyltransferase and methylmalonyl-CoA mutase. Treatment consists of parenteral administration of large doses of vitamin B 12.

Treatment should be started as early as possible!

C1 inhibitor concentrate (C1-INHIBITOR).
A) native C1 inhibitor (isolated from plasma): Berinert, Cinryze(in adolescents and adults), Cetor;
b) recombinant C1-inhibitor (obtained from the milk of genetically modified rabbits): Rhucin.
Bradykinin receptor antagonists: Firazyr (Icatibant) .
Adults only. In pediatrics, research continues.
Kallikrein inhibitor: Kalbitor (Ecallantide)
Fresh frozen plasma, if it is not possible to use C1 inhibitor drugs and other modern medications.

*according to NAO Consensus 2010

Long-term prevention of Hereditary Angioedema

According to Craig et al. (2009), long-term prophylaxis is required for patients if:

frequency of exacerbations of HAE more than one exacerbation per month;
ever experienced swelling of the larynx;
ever required tracheal intubation or admission to the intensive care unit;
attacks of HAE are accompanied by temporary disability or absence from classes for more than 10 days per year;
due to attacks of HAE, there is a significant decrease in quality of life;
the patient has any drug addiction;
patient contact with health centers is limited;
the patient experiences a sharp development of exacerbations of HAE;
if the so-called is ineffective on-demand therapy(therapy on demand).

For long-term prevention, experts from the International Consensus on the Treatment of HAE (2010) recommend the following groups of drugs:

T.N. "lightweight" androgens: Stanozolol, Danazol, Oxandrolone.
This group of drugs is quite effective, but has a large number of serious side effects. And, if to obtain a clinical effect (controllable state) a dose of more than 200 mg/day is required (according to Danazol), then the expected benefits should be weighed against the possible risk of side effects.
Fibrinolysis inhibitors (antifibrinolytics): ε-aminocaproic And Tranexamic acids.
These drugs can be effective for long-term prevention, but have numerous side effects, and therefore experts prefer the use of androgens over this group, as they are more effective.
C-1 inhibitor
a) native (plasma): Cinryze(in adolescents and adults), Berinert, Cetor,
b) recombinant: Rhucin, Ruconest– is currently undergoing clinical trials to allow use as a prophylactic agent). Its effectiveness has been shown in multicenter studies.

Short-term prevention of Hereditary Angioedema

Drugs used to treat exacerbations of HAE are used. In case of prodromal symptoms (precursors), it may be effective Tranexamic acid or Danazol for 2-3 days to prevent the development of exacerbation.

Medicines used to treat and prevent Hereditary Angioedema

"Aminocapronka" most likely will not help. In general, it helps very few HAE patients, but still, sometimes it does help. It’s a pity that our doctors (due to the lack of other effective drugs, as well as lack of knowledge about HAE) still prescribe it.
It’s better to pay attention to TRANEXAMIC ACID. In Russia and Ukraine there is such a drug as TRANEXAM. However, unfortunately, this medicine is also considered ineffective. But you can try.
Further, from the available there is "Danazol" with the trade names Danoval, Danol, Danazol. Typically, HAE patients take this drug 50 mg - 200 mg per day and increase the dose if there is a possibility of an attack (and attacks do occur, but usually much less frequently). Attention! Danazol has a whole range of bad side effects, especially for women, especially if the medicine is taken in large doses. But, despite all the “buts,” the drug works for many HAE patients.
There is also a drug called Stanozolol. It is as effective as Danazol, but there are far fewer side effects. Pay attention to him. In children, according to the literature, treatment with low doses of oxandrolone is more preferable.
During acute attacks of edema (larynx, abdomen, face) abroad (there, there) the following drugs are used:
+ C1 inhibitor concentrate (Berinert, Cinryze, Cetor);
+ Recombinant C1 inhibitor concentrate (Ruconest/Rhucin);
+ B2 receptor antagonists (Firazyr).
All these drugs are very expensive. Patients rarely pay for them themselves. People are helped by the state, insurance organizations, and charitable foundations, paying either the full cost of the drugs or part of them. Very often, such expensive drugs are stored in refrigerators and “wait” for acute attacks of their owners. In order for these medicines to become available in the CIS countries, patients must take an active part in the process of treatment and diagnosis. To optimize partnerships between HAE patients and physicians, HAE patient associations or groups exist in many Western countries.

Please note that Firazyr is officially registered in Russia, which means it should be available to patients. At least in clinics in big cities for the relief of acute edema.

If none of the things stated in paragraph 5 are available, and there is dangerous edema, then urgent hospitalization in the intensive care unit is necessary (it is advisable that the patient is known there, so you should agree in advance) and the introduction of fresh frozen plasma rich in a C1 inhibitor (it is better to select in advance yourself and store it, for example, in the refrigerator). Caution: Recent studies on the treatment of exacerbations of HAE have shown that fresh frozen plasma may contain kininogens (bradykinin precursors), and therefore the patient's condition may worsen.

I would like to express special gratitude to Daria Aleksandrovna Yartseva (assistant of the Department of Faculty Pediatrics, Candidate of Medical Sciences, Zaporozhye State Medical University, Department of Faculty Pediatrics) for her help in writing this section.

Note. Instructions for Berinert P, Cinryze, Ruconest and Icatibant (Firazyr) preparations are reprinted from the website

A C1 inhibitor is an inhibitor whose main function is to inhibit the complement system to prevent spontaneous activation. It is an acute phase protein circulating in the blood. It also inhibits fibrinolytic, kinin pathways and the cascade of reactions in the blood coagulation system. Increased or decreased activity of complement factor C1 inhibitor may indicate a number of immune system diseases.

Synonyms Russian

C1-inhibitor, C1-INH test.

English synonyms

C1-inh, C1 esterase inhibitor.

Research method

Enzyme-linked immunosorbent assay (ELISA).

Units

cu/ml (arbitrary units in milliliter).

What biomaterial can be used for research?

Venous blood.

How to properly prepare for research?

Eliminate fatty foods from your diet for 24 hours before the test.
Avoid physical and emotional stress for 30 minutes before the test.
Do not smoke for 30 minutes before the test.

General information about the study

The complement system is part of the innate immune system. It consists of nine proteins - from C1 to C9. They help the body recognize foreign cells that may cause disease. Some health problems can cause deficiencies in these proteins. Blood tests are needed to check complement protein levels. One such test is the C1INH inhibitor activity test. This will help determine whether your body has enough C1-INH protein.

Hereditary angioedema is a rare autosomal dominant disease caused by mutations in the C1 inhibitor gene (C1INH), leading to decreased plasma C1 inhibitor levels or impaired protein function. The cause of the disease as a biochemical defect is a deficiency of the C1-esterase inhibitor. This is a vascular reaction of the deep layers of the skin and mucous membranes, accompanied by local expansion and increased permeability of blood vessels, resulting in tissue swelling. The swelling is asymmetrical; when pressed, there is no trace left on it; disappears without a trace. It is caused by a temporary increase in blood vessel permeability, mediated by the release of one or more neurotransmitters. The C1 inhibitor disrupts the binding of C1q to C1r2s2, thereby limiting the time during which C1s catalyzes the activation cleavage of C4 and C2. In addition, C1inh limits the spontaneous activation of C1 in the blood plasma. With a genetic defect dinh, hereditary angioedema develops. Its pathogenesis consists of chronically increased spontaneous activation of the complement system and excessive accumulation of anaphylactics (C3a and C5a), causing edema.

The C1INH activity test can be used to screen for hereditary angioedema. Symptoms:

swelling in the legs, face, arms, respiratory tract and gastrointestinal wall;
abdominal pain;
nausea and vomiting.

The study can help you learn how a person responds to treatment for autoimmune diseases such as systemic lupus erythematosus (SLE).

When is the study scheduled?

In the presence of angioedema;
if the presence of a systemic autoimmune disease is suspected, in particular systemic lupus erythematosus (although the study itself, determining the activity of the complement factor C1 inhibitor, does not allow one to unambiguously verify a particular diagnosis; additional laboratory and instrumental research is required).

What do the results mean?

Reference values: 0.7 - 1.3 cu/ml.

Reasons for increased activity of complement factor C1 inhibitor:

infectious diseases.

Reasons for decreased activity of complement factor C1 inhibitor:

systemic lupus erythematosus;
recurrent bacterial infections;
angioedema;
sepsis.

Important Notes

Increased activity of the complement factor C1 inhibitor can be observed in the presence of an infectious disease. However, this test is not routinely performed to detect infections.
A change in complement factor C1 inhibitor activity is not a diagnosis. A number of laboratory and instrumental studies and specialist consultation are required.

Antinuclear factor on Hep2 cells
Immunological test for determining monospecific agglutinins in hemolytic anemia

Who orders the study?

General practitioner, internist, infectious disease specialist, hematologist, rheumatologist, immunologist, allergist, neurologist, dermatologist.

Literature

Davis AE (September 2004). "Biological effects of C1 inhibitor". Drug News Perspective. 17 (7): 439–46.
Cicardi M, Zingale L, Zanichelli A, Pappalardo E, Cicardi B (November 2005). "C1 inhibitor: molecular and clinical aspects". Springer Semin. Immunopathol. 27 (3): 286–98.
Davis AE (January 2008). "Hereditary angioedema: a current state-of-the-art review, III: mechanisms of hereditary angioedema." Ann. Allergy Asthma Immunol. 100(1 Suppl 2): S7–12.
Zuraw BL, Christiansen SC. Hereditary angioedema and bradykinin-mediated angioedema. Middleton's Allergy: Principles and Practice, 37, 588-601.

Cl-inhibitor (CI) deficiency leads to a characteristic clinical syndrome - hereditary angioedema (HAE). The main clinical manifestation of hereditary angioedema is recurrent edema, which can threaten the patient’s life if it develops in vital locations.

Pathogenesis of Cl-inhibitor deficiency

The cause of the deficiency is a mutation in the Cl inhibitor gene - a serine protease that inactivates the C1r and Cls components of complement, as well as the kallikrein-kinin system and activated factors XI and XII of the coagulation cascade. Although the C1 inhibitor is not a significant inhibitor of plasmin, it is consumed by plasmin, and in its absence, activation of plasmin is one of the most important triggers for edema episodes. The main reason for increased vascular permeability in HAE is an excess of bradykinin, which is a consequence of excessive proteolysis of the high-molecular-weight kininogen by kallikrein.

Congenital C1I deficiency is an autosomal dominant disorder with equal racial and gender distribution and is the most common of all complement system defects. In patients with hereditary angioedema, three main types of defects are distinguished: in 85% of cases, there is a decrease or absence of Cl-inhibitor due to impaired transcription; in the presence of a missense mutation in the active site, the concentration of Cl-inhibitor may be normal or even increased, but the protein is nonfunctional. Type 3 HAE is caused by the presence of autoantibodies to the C1 inhibitor.

Symptoms of Cl-inhibitor deficiency

Signs of the disease in patients with hereditary angioedema are observed mainly in the first years of life. In most cases described in the literature, the manifestation of the disease occurred before the patient was 18 years of age, although there are cases of primary detection of the disease at the age of 52 years. Clinically, hereditary angioedema is characterized by swelling of various parts of the body. Swelling occurs rapidly, reaches a maximum within 1-2 days and resolves spontaneously after 3-4 days. Edema is usually not accompanied by a rash, itching, discoloration of the skin, or pain symptoms. However, swelling of the intestinal wall can manifest as severe abdominal pain. In this regard, patients with these types of manifestations of hereditary angioedema are frequent subjects of surgical interventions. In some patients, loss of appetite, vomiting and cramping abdominal pain are the only clinical manifestations of hereditary angioedema, in the complete absence of edema of the subcutaneous tissue. Laryngeal edema is often fatal, especially among young children. The factors that provoke edema have not been determined, although patients often associate attacks with stress or minor trauma, usually with swelling of the extremities. Swelling of the face and airways may occur after tooth extraction or tonsillectomy.

Diagnosis of Cl-inhibitor deficiency

The normal level of Cl-I is 0.15-0.33 g/l for adults and 0.11-0.22 g/l for children. The functional activity of Cl-I in children of the first year of life is 47-85% of that in adults. A decrease in the concentration of C1I or a significant decrease in the functional activity of C1I is diagnostic. During an acute attack of hereditary angioedema, there is a significant decrease in the hemolytic titers of C4 and C2, and, unlike patients with systemic lupus erythematosus and other immune complex diseases, the level of C3 remains normal. Due to the autosomal dominant pattern of inheritance, patients with hereditary angioedema often have a positive family history.

Treatment of Cl-inhibitor deficiency

Various types of drugs have been proposed for the treatment of hereditary angioedema. They can be divided into the following groups:

Androgens. In I960, he first showed that methyltestosterone has a striking preventive effect on the severity and frequency of HAE attacks. In 1963, a synthetic analogue of methynyltestosterone, Danazol, was obtained. The primary pharmacological actions of the drug are inhibition of gonadotropin, suppression of the synthesis of sex hormones, competitive binding to progesterone and androgen receptors. Danazol is used in the treatment of endometriosis, gynecomastia, increased blood loss associated with menstruation, hemophilia A and B to reduce bleeding and in idiopathic thrombocytopenia, where the drug can help increase the number of platelets. Danazol has been shown to increase Cl-I concentrations in most patients with hereditary angioedema. Although Danazol is one of the most commonly used agents in the prophylactic therapy of hereditary angioedema, its mechanism of action remains unknown. Unfortunately, with prolonged prophylactic use, side effects typical of drugs such as androgens are observed. There is a tendency towards obesity, amenorrhea, decreased libido, increased aminotransferases and cholesterol, muscle spasms, myalgia, increased fatigue, headaches. The use of the drug in children and pregnant women is especially limited.

Antifibrinolytic drugs. The first successful use of antifibrinolytic drugs in hereditary angioedema was described by Swedish doctors. Alpha-aminocaproic acid, which is a plasmin inhibitor, as well as tranexamic acid can be used with partial success to prevent attacks of hereditary angioedema, especially if danazol cannot be used. In acute attacks of hereditary angioedema, therapy with these drugs is ineffective. Alpha-aminocaproic acid has the following side effects: nausea, headaches, diarrhea, myositis, and a tendency to develop thrombosis.

Transfusion of fresh plasma and purified Cl-I. As a rule, during an attack of hereditary angioedema, transfusion of fresh frozen plasma reduces the intensity of edema within minutes. However, fresh frozen plasma containing C1-I also contains all other complement components, the presence of which in the transfused drug can worsen the patient’s condition. Moreover, fresh frozen plasma is a possible source of viral infections such as HIV, hepatitis B and C. In recent years, Cl-I cryoprecipitate has been successfully used in many countries. From all points of view, C1-I is an ideal drug for patients with a high risk of developing edema of the upper respiratory tract and for patients in whom the use of Danazol does not lead to an increase in the concentration of C1-I or is contraindicated.

Summarizing the above, it is necessary to take into account a three-phase approach to the treatment of hereditary angioedema: long-term preventive therapy, short-term preventive therapy before elective intervention, and treatment of acute attacks of hereditary angioedema. Currently, long-term preventive therapy is carried out with androgens and antifibrinolytic drugs. Preventive therapy in short courses, mainly in patients with hereditary angioedema undergoing dental and surgical procedures, as well as therapy for life-threatening edema, is carried out with fresh frozen plasma and, if available, C1-I cryoconcentrate.

– a genetic disease in which there is a deficiency of the complement C1 component inhibitor. Symptoms are recurrent swelling of the skin, mucous membranes and abdominal organs, which may be accompanied by suffocation (with swelling of the larynx), vomiting and abdominal pain (with damage to the abdominal cavity). Diagnosis is made on the basis of examination, study of hereditary history, determination of the C1 inhibitor, components C4 and C2 in the blood plasma, and molecular genetic studies. Treatment is carried out by compensating for the absolute or functional deficiency of the C1 inhibitor, using bradykinin and kallikrein blockers, and using fresh frozen donor plasma.

General information

Hereditary angioedema (HAE) is a variant of primary immunodeficiency caused by impaired inhibition of the complement system, more precisely, its main fraction C1. This condition was first described in 1888 by W. Osier, who identified recurrent edema in a young woman, and also established that at least five generations of her family had a similar disease. It is noteworthy that angioedema itself was discovered by I. Quincke just 6 years before the discovery of the hereditary form of this pathology - in 1882. Hereditary angioedema has an autosomal dominant transmission pattern and affects both men and women with equal frequency. According to some reports, in women the disease is more severe and occurs earlier, but no reliable studies have been carried out on this matter. The incidence of hereditary angioedema appears to vary considerably among different ethnic groups, resulting in highly variable rates ranging from 1:10,000 to 1:200,000.

Causes of hereditary angioedema

The direct cause of the development of hereditary angioedema is primary immunodeficiency, which consists of a deficiency or functional inferiority of the esterase inhibitor of one of the complement components - C1. As a result, the inhibition of the activation of other components of this system - C4 and C2 - is also disrupted, which leads to even greater disruption of the functioning of this immune mechanism. Geneticists have been able to identify the gene responsible for 98% of forms of hereditary angioedema - it is C1NH, located on chromosome 11 and encoding the above-mentioned C1 esterase inhibitor. Various mutations can lead to forms of the disease that are different in their course, which have fairly similar clinical manifestations, but differ when conducting a number of diagnostic tests.

With some types of mutation of the C1NH gene, a complete cessation of the synthesis of the C1 inhibitor protein occurs, as a result of which it is absent from the blood plasma, and the complement system is stopped by ineffective side pathways. In other cases, hereditary angioedema occurs against the background of normal levels of the inhibitor in the blood, while the genetic defect C1NH leads to a disruption of the structure of the active center of this enzyme. As a result, the C1 inhibitor becomes functionally inferior, which is the cause of the development of pathology. There are also rare forms of hereditary angioedema, in which there are no changes in the amount or activity of the C1 esterase inhibitor, or mutations in the C1NH gene - the etiology and pathogenesis of such diseases is currently unknown.

Stopping the inhibition of the activity of complement components (C1, C2, C4) leads to the launch of an immune reaction, similar in its course to an allergic reaction, especially urticaria. Complement components are able to expand the blood vessels of the deep layers of the dermis, increase the permeability of their walls, which provokes the diffusion of blood plasma components into the intercellular space of the skin tissues and mucous membranes and leads to their swelling. In addition, an important role in the pathogenesis of hereditary angioedema is played by vasoactive polypeptides - bradykinin and kallikrein, which further increase the degree of edema and are also capable of causing spasm of the smooth muscles of the gastrointestinal tract. These processes cause a wide variety of symptoms of hereditary angioedema: swelling of the skin (in the area of the extremities, face, neck) and mucous membranes (oral cavity, larynx, pharynx), abdominal pain and dyspeptic disorders provoked by a combination of edema and spasms.

Classification of hereditary angioedema

In total, three main types of hereditary angioedema have been identified to date. Their differences in terms of the clinical course of the pathology are very insignificant; special diagnostic techniques are used to determine the form of the disease. It is extremely important for an immunologist to find out the type of hereditary angioedema, since the treatment tactics for this pathology largely depend on this:

Hereditary angioedema type 1 (HAE-1)– is the most common form of the disease, recorded in 80-85% of patients with this pathology. The cause of this type of HAE is the absence of the C1NH gene or a nonsense mutation in it, as a result of which the C1 inhibitor is not produced in the body.
Hereditary angioedema type 2 (HAE-2)– a rarer form of pathology, detected in only 15% of patients. It is also caused by a genetic defect in C1NH, however, the expression of the C1 inhibitor protein does not stop, and the enzyme itself has an altered structure of its active center. This leads to his inferiority and he becomes unable to perform his functions correctly.
Hereditary angioedema type 3– a relatively recently discovered form of the disease with virtually unstudied etiology and pathogenesis. It was reliably determined that with this type of edema there are no mutations of the C1NH gene, the normal amount of esterase inhibitor of the complement component C1 and its functional activity are preserved. There is no further data on this form (or their combination) of hereditary angioedema.

Symptoms of hereditary angioedema

As a rule, at birth and in childhood (with the exception of rare cases), hereditary angioedema does not manifest itself in any way. Quite often, the first signs of the disease appear in adolescence, as they are provoked by stress and hormonal changes occurring in the body at this time. However, hereditary angioedema often appears later - at the age of 20-30 years or even in older people. Most often, the development of the first attack is preceded by some provoking event: severe emotional stress, serious illness, surgery, or taking certain medications. Subsequently, the “threshold of sensitivity” in relation to provoking factors decreases, attacks occur more often - hereditary angioedema becomes recurrent.

The main manifestation of the disease in most patients is swelling of the skin and subcutaneous tissue on the hands, feet, and sometimes the face and neck. In more severe cases, edema occurs on the mucous membranes of the oral cavity, larynx and pharynx - and suffocation (asphyxia) can develop, which is the most common cause of death from hereditary angioedema. In other cases, symptoms from the gastrointestinal tract come to the fore: nausea, vomiting, pain and cramping in the abdomen, sometimes such a clinical picture takes on the features of an “acute abdomen”. In some cases, hereditary angioedema is characterized by a combination of swelling of the skin, mucous membranes and damage to the gastrointestinal tract.

Diagnosis of hereditary angioedema

To identify hereditary angioedema, data from a physical examination of the patient, a study of his hereditary history, determination of the amount of C1 inhibitor in the blood, as well as complement components C1, C2, C4, and molecular genetic studies are used. Examination during the acute phase of the disease reveals swelling of the skin or mucous membranes; patients may complain of abdominal pain, vomiting, and diarrhea. In the blood in the presence of hereditary angioedema type 1, the C1 esterase inhibitor is completely absent, and the concentrations of complement indicator components are significantly reduced. In type 2 of the disease, a small amount of C1 inhibitor can be detected in the blood plasma; in rare cases, its level is normal, but the compound has reduced functional activity. With all three variants of hereditary angioedema, the level of C1, C2 and C4 does not exceed 30-40% of normal, so this indicator is key in diagnosing this condition.

A study of a patient's hereditary history often reveals the presence of a similar disease in at least several generations of his ancestors and other relatives. However, the absence of signs of a familial pathology is not an unambiguous criterion to exclude hereditary angioedema - in about a quarter of patients this condition is caused by spontaneous mutations and is detected for the first time in the family. Molecular genetic diagnosis is carried out by automatic sequencing of the C1NH gene to identify mutations. Differential diagnosis should be made with angioedema of allergic origin and acquired forms of C1 inhibitor deficiency.

Treatment of hereditary angioedema

Therapy for hereditary angioedema is divided into two types - treatment to stop an acute attack of the disease and prophylactic medication to prevent its development. In the case of acute angioedema caused by HAE, traditional anti-anaphylactic measures (adrenaline, steroids) are ineffective; it is necessary to use a native or recombinant C1 inhibitor, bradykinin and kallikrein antagonists; in their absence, transfusion of fresh frozen plasma is indicated. Such treatment should be started as early as possible, ideally at the very first attacks of hereditary angioedema.

Long-term prevention of the disease is carried out in cases where attacks occur too often (more than once a month), if there is a history of laryngeal swelling or suffocation, or hospitalization in the intensive care unit. Prevention includes the use of androgens, exogenous (recombinant or native) forms of C1 esterase inhibitor, and antifibrinolytic drugs. With a benign course of hereditary angioedema - rare attacks and their relatively rapid disappearance - such treatment may not be prescribed. However, on the eve of surgical or dental interventions, physical and mental stress, it is recommended to take the above remedies for a short time to reduce the risk of an attack.

Forecast and prevention of hereditary angioedema

In most cases, the prognosis of hereditary angioedema is relatively favorable in terms of survival - with reasonable treatment and prevention, attacks occur extremely rarely and do not threaten the patient’s life. In this case, there is always a risk of laryngeal edema, which can lead to asphyxia and death. Such patients should not only avoid significant physical and emotional stress, but it is also advisable to have a card or medallion with them indicating the diagnosis. A huge number of deaths from hereditary angioedema were due to the incorrect actions of doctors who did not know the diagnosis and therefore used drugs traditional for allergic Quincke's edema, which are ineffective for HAE.