New project investigates potentially lethal angiooedema

By Redazione

In the framework of the EU-funded E-Rare rare diseases programme, scientists have now started to search for hereditary causes of a particular form of angiooedema, type III of the disease, the
one under investigation in the HAEIII project, almost exclusively affects women, who exhibit sudden swelling of the skin or the gastrointestinal tract that can – in the worst cases – lead to

An international research team made up of clinical researchers and geneticists from Germany, France and Italy has already determined one factor that may cause the disease. ‘We found that
genetic mutation of the blood coagulation factor XII is the trigger in some patients,’ explains HAEIII project coordinator Dr Sven Cichon of the research centre Life & Brain at the
University of Bonn, Germany.

The same team will now look for further genetic features involved in the development of the disease, as they know that the coagulation factor is not responsible in all instances. ‘We hope to
clarify the disease’s mechanisms and use those findings in developing new treatments,’ Dr Cichon adds.

Angiooedema also used to be known as Quincke’s oedema, after Dr Heinrich Quincke, who was the first to describe the clinical picture of the disease in 1882. It causes swelling of the skin,
mucosa and submucosal tissue. The areas affected swell up over a period of minutes to several hours and may start to itch.

While it can be mediated by allergy and has sometimes been reported as a side effect of medications, there are three forms of hereditary angiooedema (HAE) that are due to genetic mutation and
which can also affect the gastrointestinal tract. The allergic variant of angiooedema can be treated with an epinephrine injection. In the case of HAE, however, this treatment has not proven to
be effective.

Acute episodes of HAE in Europe tend to be treated by giving the patient a serine protease inhibitor (serpin) protein (C1-INH). Long-term prophylaxis often involves the administration of male
sex hormones. New treatment methods are being tested. However, the effect of most of the new agents on HAE type III has not been studied.

The latest call for proposals published by E-Rare elicited 125 responses, 13 of which were selected for funding. HAEIII is one of those projects and it will receive about ?850,000 over the next
three years. Coordinated by the University of Bonn, Germany, the project will bring together scientists from the Universities of Cologne, Würzburg and Mainz in Germany, the University of
Grenoble, France, and the Italian research institute IRCCS.

For further information, please visit:

%d blogger hanno fatto clic su Mi Piace per questo: