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Mystery surrounds woman’s disfiguring facial swelling for nearly 10 years

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     (New England Journal of Medicine)

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    New England Journal of Medicine

A report in the New England Journal of Medicine highlights one woman’s struggle to find a diagnosis after struggling with severe facial swelling.

Dr. Didier G. Ebo and Chris H. Bridts from the University of Antwerp in Belgium wrote about a 54-year-old woman who came to a clinic with “progressive swelling” of her face. Within two to six hours of an episode, the woman’s face would swell to the point where her lips ballooned and her face contorted.

The patient did not present with shortness of breath, although she had a nearly 10-year history of swelling of the tongue, larynx, trunk and other extremities, starting in her early 30s.

The woman told doctors her episodes would last anywhere from hours to three days, regardless if she took an antihistamine or steroids.

Doctors tentatively diagnosed her with type III hereditary angioedema -  a rare, but serious problem with the immune system that causes swelling of the face, according to the U.S. National Library of Medicine. The disease is usually caused by low levels of a protein known as C1 inhibitor, but since the woman’s C1 levels were fine, she was diagnosed with type III.

It is thought that type III hereditary angioedema is caused by a build-up of the peptide bradykinn, which can happen when a person is taking ACE-inhibitors – but this woman was not, doctors noted.

The woman was given transexamic acid – a medicine used to treat heavy bleeding during menstrual periods – as maintenance therapy. She was advised to avoid taking any ACE inhibitors or angiotensin-receptor blockers – both of which treat hypertension.

After a three-year follow-up, the woman said her episodes were less severe and happened less frequently.

Click here for more from The New England Medical Journal.