Learning that we are neither freaks nor hypochondriacs is a great relief for us. A new era has begun in my life. I am simply overwhelmed by the opportunity to move around almost without any restrictions and there is no need to apologize. Our current safety had to be fought dearly.”

(Excerpts from patient diaries)

WHAT IS HAE?

Hereditary angioneurotic edema (HAE) is an uncommon, but potentially life-threatening hereditary disorder. Its prevalence in the general population is estimated at 1:10,000 to 1:50,000. This disease is characterized by edema formation on the face, extremities, genitals, and torso, as well as in the mucosa of the pharynx, or in the intestinal wall. Its manifestations are similar to those of allergy, and therefore, HAE is often misdiagnosed. Owing to the lack of early diagnosis and delays in appropriate management, the mortality of HAE is still high – 20 to 30 per cent. HAE is caused by the deficiency of C1 inhibitor (C1-INH), an important regulatory protein of the body. An additional type of hereditary angioedema has been discovered. It is not related to the inborn deficiency of C1-inhibitor; mutation of the gene of coagulation factor XII (Hageman's factor) has been shown in a proportion of cases.

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