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Diagnosis HAE: Swelling caused by a genetic defect with a chain reaction

Diagnosis HAE: Swelling caused by a genetic defect with a chain reaction

The tongue thick, the airway almost tight and often the whole stomach in turmoil – it took years for the patient to find out what was wrong. A genetic defect is to blame.

The young woman came to us with shortness of breath and swelling on her face as an acute emergency. Lip and tongue were thick, she could hardly speak. The respiratory tract also seemed to be affected, and the twenty-something seemed anxious. I found out later that she had known similar situations for almost 20 years. So far no one had been able to help her. As best she could, she reported that the swelling had appeared all over her body, mostly on the arms and legs. She also had severe, cramping stomach pains with diarrhea and vomiting, which sometimes lasted up to three days. In the past few years, she had been to several doctors from different disciplines. But all therapies had been unsuccessful.

Source: Stern

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