Without treatment, it is virtually impossible for severely affected patients to lead normal everyday lives.
Symptoms and Diagnosis
RÜDIGER GATERMANN: In Germany and indeed throughout Europe, rare diseases are currently receiving a very great deal of political attention. The European Commission, for example, is currently conducting a public consultation exercise about rare diseases and is scheduled to present an official EU Communication on the subject later this year. What does this initiative mean for HAE? In what way might the political environment as well as the medical situation for patients improve?
But first the question: What is hereditary angioedema, and what are its characteristic symptoms?
PROF. MARCO CICARDI: HAE is a disease caused by a single gene. The change in this gene or "genetic mutation" leads to a deficiency of C1-esterase inhibitor (C1-INH) protein in the patient’s blood. The protein deficiency leads to dysregulation of bradykinin formation, which can result in edema, lasting up to five days. Various painful and even life-threatening symptoms can occur, depending on the region of the body affected. If swelling of the gastrointestinal mucosa occurs, there can be paroxysmal abdominal pain with vomiting and diarrhea. Swelling in the larynx can lead to asphyxiation.
It is still unclear why each patient is affected differently by swelling attacks. Furthermore, the frequency of the edema can also change during the course of a patient's life. A patient’s quality of life is determined by the frequency and severity of these symptoms. Without treatment, it is virtually impossible for severely affected patients to lead normal everyday lives. This is particularly true in the case of patients who suffer swelling attacks several times a month.
RÜDIGER: What are the known factors that can promote or trigger an attack?
MARCO:There are certain situations that promote the occurrence of a swelling attack. Every patient is aware of very specific situations in which he or she is very likely to suffer angioedema.
LUCIA SCHAUF: In women, menstruation, ovulation, or hormonal changes during pregnancy can lead to extreme swelling, for example. But every woman is different. Many patients also report attacks when the body rests after a stressful situation.
URSULA HUFFER: However, it also has to be noted that many attacks have no discernible triggers. There are patients who have attacks very regularly, once a week for example. Stress can, but need not, be the trigger; different patients are affected by different triggers.
RÜDIGER: We have already heard about the swelling and the differences in severity and frequency. How were you diagnosed?
URSULA: The mode of diagnosis undoubtedly differs as much as the frequency and severity of the attacks in different patients. In my case, I was readily diagnosed since many individuals in my family suffer from the condition. Nothing else was ever assumed to be the cause. My symptoms started when I was young, and I was diagnosed at that time. It didn‘t help, though, because for a long time there was, of course, no treatment.
LUCIA: I was 22 before I was diagnosed, on the basis of my family history. At first, I was diagnosed with allergies, but since my father had similar symptoms we were eventually both diagnosed with HAE. My father had suffered swollen and laryngeal swelling throughout his life. Since he worked as a baker it was always supposed he was allergic to house dust or flour dust.
Until I was 22 I was treated with cortisone and calcium. For gastrointestinal attacks, I was given a spasmolytic and a drug to reduce nausea and vomiting. This made me tired; I went to bed and slept, and after a good day and a half, I came round again reasonably okay...
RÜDIGER: So an attempt was made to treat the symptoms, and there was no treatment of the cause, which with correct diagnosis could normally have been identified earlier.
LUCIA: For 10 years I was given prophylactic treatment with androgen derivatives, to prevent the attacks.
URSULA: That treatment didn’t exist until I was 27. I was one of the first in Germany to be offered androgen derivatives. The problem at that time was not diagnosis, but lack of treatment.
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Key Issues Dialogue: Hereditary Angioedema in Europe - Diagnosis, Treatment and Healthcare Policy