Course of the disease hereditary angioedema
Hereditary angioedema most often manifests itself by the age of 10. A later first manifestation is rather rare. In the further course of the disease, recurrent attacks with swelling or gastrointestinal complaints occur.
In some patients only skin swelling occurs, in others only gastrointestinal symptoms. The frequency of attacks varies greatly. Thus, some patients experience symptoms every few days, others much less frequently.
The laboratory values are not a measure of the intensity or frequency of the complaints. On average, women are more affected than men. During pregnancy the symptoms can also increase.
Hereditary angioedema is a disease that is treatable but not curable. Most attacks of hereditary angioedema occur without a recognizable trigger. In some cases, however, dental procedures or interventions in the throat and respiratory tract, such as tonsillectomy or intubation (insertion of a tube into the respiratory tract for ventilation, e.g. as part of a planned operation) may be named as the trigger.
Some patients also cite flu-like infections or psychological stress as possible triggers. There are also certain drugs that can significantly increase the likelihood of attacks. These include drugs for high blood pressure or heart failure, especially ACE inhibitors, such as ramipril or enalapril, or, more rarely, angiotensin receptor antagonists, such as candesartan or valsartan. In women, the use of contraceptives containing estrogens can also trigger attacks.
Diagnosis of hereditary angioedema
Hereditary angioedema is unfortunately a disease that is often only correctly diagnosed after a long period of illness. First of all the medical history is important. If patients report recurring sudden swelling of the skin or mucous membrane, the diagnosis is not too far away and further diagnosis can be made.
However, there are also patients with hereditary angioedema who do not suffer from the typical swelling of the mucous membranes, but rather from recurring gastrointestinal complaints, for example. In these patients, the atypical symptoms can make the diagnosis significantly more difficult. In addition to the patient’s own anamnesis, the family anamnesis also plays an important role in the diagnosis.
Here it is important to find out whether similar symptoms have occurred in the family. In order to finally confirm the diagnosis, however, different blood values must be determined. These include the concentration and activity of the enzyme C1 esterase inhibitor.
These are reduced in hereditary angioedema. The concentration of the complement factor C4 also plays a decisive role in the diagnosis. The factor C4 is present in lower concentrations in diseased patients than in healthy patients.
In rather rare cases, a genetic examination is necessary to confirm the diagnosis. In children of diseased families, the above-mentioned values should be determined at an early stage to confirm the diagnosis. This can be life-saving under certain circumstances.
