None — BACKGROUND: Hereditary Angioedema (HAE) is fatal genetic swelling disorder. According to the U.S. Hereditary Angioedema Association, HAE is an extremely rare, yet potentially deadly swelling disease that occurs in approximately 1 in every 10,000 adults. Typically, HAE swelling occurs in the hands, feet, airway, and/or face. Patients with HAE may experience severe abdominal pain followed by intense vomiting and nausea. The most detrimental of all the possible areas to swell is the airway. If the airway swells, suffocation may occur, and death can shortly follow.
Patients with HAE have a genetic defect in a blood protein called C1-inhibitor. Those with normal C1-inhibitors have regulated biochemical interactions. On the contrary, those with defective C1-inhibitors experience defects in the production of the proteins needed for the biochemical interactions. Because HAE is genetic, a parent who has HAE has a 50 percent chance of passing the disease on to their child.
CAUSES OF HAE ATTACKS: Most HAE attacks occur without a specific cause. However, anxiety, stress, trauma, surgery, illnesses (cold and flu) have all been known to trigger HAE attacks. Airway attacks are a little different. Typically, if there has been trauma to an oral cavity, such as during a dental procedure, HAE will attack the airways and cause them to swell. Menstruation and pregnancy have also had negative HAE effects on women, causing the swelling to occur.
SIGNS AND SYMPTOMS: Tingling and tightness at or around the area of swelling are the two most common symptoms of HAE. Statistics show nearly one-fourth of patients will experience red spots and blotches before and during an attack. Attacks usually last for 24-72 hours, yet swelling can last up to four days. Symptoms of airway swelling include voice changes and difficulty swallowing.
DIAGNOSIS AND DETECTION: Since allergies can also cause swelling, HAE is tested through a simple blood test. There are two specific ones doctors use: C1-inhibitor quantitative and C1-inhibitor functional. When studying the blood results, doctors look for the most common form of HAE -- Type I. Type 1 is characterized by low quantitative levels and usually affects around 85 percent of patients. The second type, Type II, affects approximately 15 percent of patients. Detection of HAE depends on each person. Most patients report symptoms around 7 years of age. However, many show symptoms around the beginning of their teen years.
NEW TREATMENTS: Three therapies have recently been approved by the FDA to treat acute HAE attacks. These include: • Cinryze -- used to prevent HAE attacks. It is delivered intravenously. • Berinert -- used to treat acute facial and abdominal HAE attacks. It is also delivered intravenously. • Kalbitor -- approved to treat acute HAE attacks in patients 16 years of age and older. It is delivered through subcutaneous injections.
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