Diseases

Hereditary Angioedema – Causes, Symptoms & Treatment

Hereditary Angioedema

Hereditary angioedema is a rare hereditary disease. Those affected repeatedly suffer from edema formation.

What is hereditary angioedema?

Hereditary angioedema is an autosomal dominant hereditary disease in the course of which angioedema ( Quincke’s edema ) repeatedly develops. The disease is a special form of Quincke’s edema. Hereditary angioedema is characterized by swelling that develops on the skin, mucous membranes and internal organs.

It is estimated that one in 10,000 to 50,000 people suffers from the hereditary disease. However, it is considered likely that the number of unreported cases is significantly higher. Women and men are equally affected. The disease was first described in 1882 by the German internist Heinrich Irenaeus Quincke (1842-1922).

In earlier years, the disease was still called hereditary angioneurotic edema. However, since there is no neurological influence on the development of the disease, the term hereditary angioedema has become established over time.

causes

Hereditary angioedema is caused by a genetic defect. This causes a deficiency of the C1 esterase inhibitor (C1-INH). This fulfills the task of activating the complement system. There are more than 200 mutations in total. Either too little of the C1 esterase inhibitor is produced or malfunctions occur.

C1-esterase inhibitor deficiency causes edema to develop within the complement system and the contact system of blood coagulation. It is assumed that the peptide bradykinin plays a crucial role in the contact system. The release of bradykinin occurs at the end of a series of reactions that are the body’s response to injury.

Bradykinin increases the amount of fluid that flows out of the blood vessels into the tissue. This can lead to edema (water retention). Bradykinin also dilates blood vessels and causes muscle contractions, leading to pain and cramps. Normally, the C1 esterase inhibitor limits bradykinin release. However, due to the deficiency, significantly more of the peptide can be released than is needed.

In some cases, autoimmune diseases are responsible for a deficiency in the C1 esterase inhibitor. However, this is not a hereditary but an acquired angioedema. Sometimes medications such as ACE inhibitors can also trigger severe bouts of edema.

The reason for this is their influence on bradykinin metabolism. In some patients, no specific cause for the disease can be found. Doctors then speak of an idiopathic angioedema.

Symptoms, Ailments & Signs

In principle, hereditary angioedema can occur at any age. However, it is most common in the first two decades of life. 75 percent of all patients before the age of 20 suffer from symptoms. The attacks are particularly common during puberty and in young adults.

Taking the birth control pill is considered to be the trigger in young women who have not had any symptoms up to now . Attacks can also be provoked by triggers that cannot be identified. These include fear , stress and minor injuries. A typical symptom of hereditary angioedema is the development of extensive edema on the skin.

Water retention can also show up in the respiratory tract or in the gastrointestinal tract. If a hereditary angioedema forms in the larynx, there is even a risk of death. The frequency of edema attacks varies greatly from patient to patient.

For some sufferers they occur once a week, for others only once a year. A typical indication of hereditary angioedema is the absence of itching . Edema attacks usually last three to five days. It is not possible to predict when the next edema will appear.

Diagnosis & History

The symptoms of hereditary angioedema resemble the symptoms of intestinal colic or allergies , which are more common. For this reason, the rare disease is often discovered late. If the edema does not respond to the administration of cortisone or antihistamines , this is considered an important indication of the disease.

This makes it possible to differentiate between allergies. If edema attacks only occur within the gastrointestinal tract, the diagnosis proves to be particularly difficult. The medical history of the patient also provides important information. Otherwise, he needs a laboratory analysis for an exact diagnosis.

In this context, the detection of the C1-INH deficiency does not take place, but of low values ​​of the complement factor C4. Its consumption occurs in the complement system reaction chain of the body’s defenses. Because there is no regulation of the C1 esterase inhibitor, the C1-INH is permanently overactive.

Hereditary angioedema can take a dangerous course if seizures occur within the airways. Swelling of the mucous membrane in the trachea is one of the most common causes of death in patients.

complications

In most cases, this condition only affects young adults or people going through puberty. Especially women who take birth control pills are particularly often affected by the symptoms. This leads to anxiety, panic attacks and excessive stress. These ailments generally have a very negative effect on the patient’s body and can lead to psychological ailments.

Furthermore, edema develops, which can cover the entire body. It is not uncommon for life-threatening situations to arise if water retention develops in the stomach or in the respiratory tract. In the worst case, the affected person can die without treatment. As a rule, this also reduces life expectancy if the symptoms are not treated by a doctor.

In most cases, a relatively simple treatment of the disease is possible, with no special complications. The treatment takes place mainly with the help of medication and can greatly reduce the symptoms. However, the affected person is usually dependent on lifelong therapy, since the disease cannot be treated causally.

When should you go to the doctor?

If changes in the mucous membranes in the mouth and throat are noticed, a doctor should be consulted. This is especially true for persistent symptoms that don’t seem to go away. If there is a concrete suspicion of hereditary angioedema, a doctor must be consulted immediately. In particular, symptoms such as difficulty swallowing, shortness of breath and tachycardia should be clarified.

Persistent cardiac arrhythmias indicate a serious condition that needs to be investigated and treated immediately. At the latest when severe pain, gastrointestinal complaints or fever symptoms occur, medical advice is required. If in doubt, the patient should go to a hospital. If left untreated, hereditary angioedema can cause shortness of breath, bleeding, and other serious complications that require emergency medical attention.

Quincke’s edema occurs mainly after taking ACE inhibitors and generally with allergic reactions. Patients who regularly take medication, allergy sufferers and those with chronic illnesses should go to the responsible doctor immediately with the symptoms mentioned. In addition to the family doctor , the dermatologist or an internist is also an option .

Treatment & Therapy

The treatment of hereditary angioedema is divided into therapy for the acute symptoms and long-term prophylaxis. During the acute phase, the development of the edema should be stopped as quickly as possible. For this purpose, the patient in Germany usually receives a C1-INH concentrate. This consists of donor blood and is administered intravenously.

If necessary, freshly frozen blood plasma containing C1-INH can also be given. A recombinant C1-INH preparation that does not require donor plasma is now also available in Germany. If the edema attacks appear at least once a month, long-term prophylaxis is required. In addition, mostly male sex hormones are used, which increase the production of C1-INH.

Outlook & Forecast

Without treatment, hereditary angioedema leads to a reduction in life expectancy. Edema of the skin and mucous membranes occurs again and again, which under certain circumstances can be acutely life-threatening. This is especially the case when the swelling occurs in the upper airways. Then there is a risk of suffocation. Where and when the edema will appear can never be predicted. Gastrointestinal edema causes severe colic.

The seizures come unprepared. They can occur once a year or once a week. Any attack has the potential to be fatal. As the name suggests, it is a congenital condition that is genetic.

Due to a genetic defect, the permeability of the affected vessels suddenly increases due to minor causes such as minor injuries, irritations, infections or medical interventions, so that fluid can leak into the surrounding tissue and cause swelling. Due to the rarity of the disease, it is often not diagnosed or diagnosed too late.

In diagnosed cases, long-term therapy with androgen derivatives (danazol) or the bradykinin receptor antagonist icatibant can be scheduled. This effectively prevents sudden edema formation. Danazol was taken off the market in Germany in 2005 because it causes benign liver tumors. Before surgery or dental treatment, a C1-INH concentrate must be administered for prophylaxis shortly before the intervention. However, the patient should always be prepared for acute therapy in the event of a sudden attack.

prevention

Hereditary angioedema is one of the hereditary diseases. Therefore, there are no preventive measures.

aftercare

In most cases, those affected have very few or no special measures and options for aftercare available for this disease. The affected person must contact a doctor at an early stage so that there are no further complications or a further deterioration of the symptoms. Since this is a hereditary disease, it cannot be fully treated.

However, if you wish to have children, genetic testing and counseling can be done to prevent the disease from recurring in the children. Self-healing cannot occur in this case. In most cases, the treatment of this disease is through blood transfusions, which must be done monthly.

Regular use is important to avoid further complications. Further treatment measures cannot be carried out in this case. Furthermore, those affected by this disease often need the support of the whole family and friends.

This can also prevent psychological upsets or depression, whereby intensive and loving conversations can also have a positive effect on the course of the disease. No general prediction can be made about the life expectancy of those affected.

You can do that yourself

A hereditary angioedema must be clarified and treated by a doctor in any case. In addition to the medical measures, self-treatment is also possible in some cases.

The most important step is to fix the triggering circumstances. For example, if the edema was triggered by a specific drug, it must be discontinued and replaced with another drug. A typical trigger is the birth control pill, which should be discontinued in the event of the corresponding symptoms, preferably in consultation with the gynecologist in order to avoid any complications.

Alternatively, you can try to avoid so-called triggers – possible triggers of an attack. These include, for example , stress , anxiety and minor injuries. However, if one of the symptoms mentioned occurs, you must speak to your family doctor or a dermatologist immediately .

If hereditary angioedema is treated with medication at an early stage, it often disappears on its own and does not require any treatment on its own. Since such edema can occur again and again, preventive measures must be taken. This includes avoiding the triggers mentioned as well as regular visits to the doctor and a healthy lifestyle with a balanced diet and sufficient exercise.

Lisa Newlon
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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.