There is a rare disease that causes the entire body to swell--it’s a frightening condition that can be fatal in some cases.
Now, an effective treatment being used in Europe might soon be available here in the u.s.
Hereditary angioedema(anjee-oh-ih-deema) is due to the lack of a protein that keeps the immune system under control.
Now, a new treatment gives back what the body lacks, and prevents the life-threatening swelling.
“I first had my attack when I was four, my mom got me up from bed and saw I was swollen pretty much from my arm to my finger tips to my shoulder.” 38 year old Beth Mercante has suffered almost from the beginning of an inherited disorder called hereditary angioedema. It’s due to a deficiency of a protein called C1 inhibitor.
Dr. Paula Busse, Assistant Professor of Immunology at Mt. Sinai Medical Center, says, “It helps to regulate inflammation and if inflammation goes unchecked and unregulated people can get swelling so that is the cause of the swelling.”
Attacks are characterized by the recurrent and unpredictable swelling of the extremities, face, bowel wall, and upper airway. “They won’t be able to put their shoes on, cant pick up objects so there is really several aspects,” Dr. Busse states.
Abdominal attacks are debilitating, associated with severe crampy pain, vomiting, and diarrhea.
“When I am having a hand swelling my hand won’t bend more than that… facial swelling my eyes would close shut, my nose would be like this, my lips out to here, so it is pretty dramatic, but it can go anywhere,” Beth reports.
Laryngeal swelling is a life threatening medical emergency that can close the airway and cause asphyxiation.
The problem is there are not good medications available in the united states-- to treat an episode of the angioedema, to stop the swelling or to prevent these episodes.
Now, there is a safe and effective therapy being studied now called c1 inhibitor, that can be used as a prophylactic – so sufferers can be protected against future attacks.
Paula states, “They have something that can control their disease, so it is a huge impact and patients are very, very excited about this.”
“I can administer it to myself and administer it to my son, and my little sister can have it so she can have babies and lead a normal life and really not go on vacation or go somewhere and be scared that I might have an attack and it may be serious and go into a hospital that no one knows what they want,” Beth adds.
There is an estimated 10,000 sufferers in the U.S. :
It is inherited, so if the parent has it there is an approximately fifty percent chance that he or she can pass it to their children.
However twenty percent of the times people can develop it randomly, so even if their parents don’t have it or there is no family history they can develop it but it is still considered a random disease.
For more information on this treatment, please go to www.levpharma.com
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