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FAQ: Diagnosis
Answers on frequently asked questions about HAE diagnosis.
How can you tell if the larynx is starting to swell?
The larynx can swell both spontaneously and after an injury to the oral mucosa, e.g. during dental treatment. The first signs will be difficulty swallowing, voice changes and hoarseness. Increasing swelling in the larynx then leads to breathlessness, which can cause suffocation in extreme cases.How is HAE diagnosed?
If the patient has recurrent episodes of edema affecting the limbs, face, neck, genitals or buttocks and lasting several hours to days, the existence of hereditary angioedema should be considered. HAE can also be the cause of recurrent colicky pain in the abdominal cavity. If a family history is already known to include cases of HAE, it is very reasonable to suspect hereditary angioedema the first time it occurs in another family member. Failure to respond to drugs administered for allergic reactions, such as antihistamines, corticosteroids and adrenaline, is also used to distinguish HAE from other diseases.However, the diagnosis of HAE is confirmed by special blood tests in which the concentration and activity of C1-INH and the concentrations of other proteins in the complement system are measured. The concentration and activity of C1-INH are reduced in patients with hereditary angioedema.
Laboratory analysis is also based on detection of complement factor C4 in the blood, which is used during activation of the complement cascade. More C4 is used in patients with untreated HAE leaving them with lower blood levels of C4 than in healthy people. Detecting reduced C4 levels is now regarded as a completely reliable way of predicting a C1-INH deficiency, which is then confirmed by a follow-up measurement of quantitative and functional C1-INH levels.
What does the fact mean that HAE is a hereditary disease?
The defect on chromosome 11 that is responsible for HAE is equally common in men and women and can be passed on by both sexes. Both men and women with HAE can have children. As HAE is an autosomal dominant hereditary disease, there is a 50% risk of a child inheriting the disease from the affected parent. Male and female offspring are at equal risk of inheriting HAE.What does HAE mean for a pregnancy and vice versa?
In principle, women with HAE can have children. HAE does not impair fertility. However, women who are being treated with androgens (e.g. danazol) should stop taking them, as this treatment can impair female fertility.Androgens can have an adverse effect on pregnancy. Episodes of HAE can increase during pregnancy, as can the severity of the edema. The intensity and frequency of the episodes usually decrease again at the end of the pregnancy. However, not all patients with HAE have exacerbated symptoms during pregnancy. Patients who experience an increase in the number of episodes should be monitored closely and treated with C1-INH if necessary.
Why does it often take years to diagnose HAE?
Hereditary angioedema is a rare and relatively unknown disease. In addition, the symptoms of an episode of HAE are similar to those of much more common diseases, e.g. an allergy, colic or appendicitis. This makes it rather likely to diagnose correctly.HAE can also be confused with other forms of angioedema, e.g. allergic angioedema. However, the drugs used to treat this form of angioedema, such as cortisone products and antihistamines, have no effect on hereditary angioedema.
Diagnosing HAE is particularly difficult if the patient has predominantly gastrointestinal episodes. If HAE is suspected, it can be confirmed quickly by a blood test.
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Author: Jerini AG
Source: HAE-Network Status: 3/08 This FAQ is frequently updated. Please send us your comments or suggestions by e-mail. |
