DEAR DR. GOTT:
A while ago I was watching TV and happened to catch the end of a show. It was about a rare condition that a woman had had for 30 years. She has seen many doctors but no one could help her. Eventually she found a doctor who ordered a special blood test which finally gave her a diagnosis. Because I missed most of the show, it was only referred to as HAE in the last minutes.
Could you write a column about this?
DEAR READER:
I can try.
Unless I am mistaken, the condition referred to was hereditary angioedema, a rare but serious disease. Hereditary means that it is passed through families, although some may not know it, because other afflicted family members may have been labeled as having unexpected, sudden, premature deaths.
Hereditary angioedema is caused by low levels or abnormally functioning C1 inhibitor proteins. It primarily affects blood vessels which can lead to rapid swelling of various parts of the body and may have deadly results. Symptoms may appear to be caused by an allergy but do not have the typical hives or itching associated with allergic reactions.
Symptoms include swelling of the arms, legs, lips, eyes, tongue or throat; intestinal swelling that can lead to dehydration, pain, vomiting, and (rarely) shock; repeated bouts of abdominal cramping with no obvious cause; and air blockage associated with swelling of the throat and sudden hoarseness.
There is no cure for hereditary angioedema. Treatments are available, however. Attenuated androgens (derivatives of normal sex hormones) have been show to reduce the frequency and severity of attacks. Treatment during an attack can include IV fluids and pain medications.
HAE can be deadly, especially if the throat and airway become obstructed by swelling. Antihistamines do little to reduce the swelling so it is important that anyone who develops sudden swelling which does not respond to allergy medications be taken to a hospital for testing and further treatment immediately.
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