PERSONAL STORY

A Long Road to Diagnosis - One man's experience with HAE*

I first developed symptoms of hereditary angioedema (HAE) during puberty, though my disease was not diagnosed as such. Instead, I endured years of wrong diagnoses and treatments.

Bruising, Sprains, Gastritis, and Other Misdiagnoses
The swelling in my limbs was misdiagnosed as bruising and sprains. Swelling in my abdomen was wrongly diagnosed as gastritis. Severe swelling after a tooth extraction was incorrectly interpreted as a side effect of the pain medication. When my genitals swelled, it was attributed to a cold.

Swelling in my brain, after a soccer match in the winter of 1988, nearly cost me my life. After losing consciousness following a severe headache, emergency medical help was summoned, and I was taken to a hospital. I spent three days in the intensive care unit. I was then discharged as healthy, the diagnosis being a "suspected viral infection." Psychological treatment was recommended. The therapy that followed had no effect on my disease, however.

A Botched Surgery
In 1995, I developed swelling in my large and small intestines. This too took a life-threatening course as I had trouble breathing as well. A thorough hospital examination found free fluid in my abdomen. As this could not be explained, emergency surgery was performed, which revealed the swelling in my intestinal area.

In the ensuing operation, an artery in my abdomen was damaged, causing severe bleeding and requiring further emergency surgery. Again, even ater the swelling was seen, the suspected diagnosis was "viral disease."

A Lucky Coincidence Brings a Diagnosis
Finally, thanks to a lucky coincidence, I was given the correct diagnosis. I was sent to the hospital once more, where I again developed breathing difficulties, which the doctors put down to anxiety states.

Since my symptoms soon disappeared, doctors again recommended that I talk to a psychologist. The psychologist could find nothing amiss, however, and I was again discharged from hospital. For further treatment, I visited my family doctor's junior assistant, who happened to know about a patient who had developed facial swelling as a result of C1-esterase inhibitor deficiency.

The physician's assistant gave me a blood test and found that I too had a C1-esterase inhibitor deficiency. HAE was finally diagnosed in March 1997, long after my first undiagnosed attack.

Increasingly Frequent Attacks
Since then, edemas have been occurring at increasingly frequent intervals. Before, I used to suffer limb swelling every 2-3 years, and swelling in the abdominal region roughly once a year. Currently, I experience attacks affecting my throat and lungs nearly every week.

I began injecting myself with C1-esterase inhibitor concentrate each week to prevent the life-threatening swelling in my throat and lungs. This treatment does not cause me any side effects.

Worries and Frustrations About Emergency Care
What particularly worries me is the fact that I cannot be certain that I will actually be given the life-saving drug in an emergency, despite emergency treatment recommendations. During a business trip in 1998, I suffered severe breathing difficulties. The emergency physician who was called administered a cortisone injection, even though I had shown him my emergency card.

I find it hard to accept that I cannot conquer this disease. Everything in my life has to be planned and thought out — I have to have the emergency kit with me at all times.

Hope for the Future
The fact that my daughter has also been found to have C1-esterase inhibitor deficiency doubles the burden for me. My hope for the future is that genetic research will lead to the development of an easy-to-take drug with a long-lasting effect against HAE.

Providing information about this rare disease is an important task, because many doctors do not readily diagnose the signs of the disease as HAE, and give the wrong treatment.

June 2002

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* Though his name is known to CSL Behring, the author wishes to remain anonymous.

Document Published: 12/21/2006 3:56 PM
Last Updated: 12/16/2009 5:26 PM