Researchers get one step closer to solving hereditary edema

Edema, the swelling of tissues due to fluid retention, can exacerbate nearly any medical condition but is especially dangerous for residents who are diabetic, recovering from a cardiac surgery or have pulmonary or kidney problems.

Researchers at Sweden’s Karolinska Institutet have discovered a specific gene mutation shared by people who have a rare form of hereditary angioedema called HAE type III, according to a recent study published in the Journal of Clinical Investigation. The mutant blood protein causes the body to produce too much of a hormone called bradykinin, which is reponsible for the swelling of the skin, throat and gastrointestinal tract of those who suffer from HAE type III.

The team has tested antibodies that can block the production of bradykinin in mice, leading to hopes of developing a human antibody in the future. “HAE type III was discovered just recently,” said Jenny Bjorkqvist, MD, one of the researchers involved in the study, in a press release. “If we want to treat the disease, we must first understand the underlying mechanism.”

Topics: Clinical