Hopes and Hurdles for HAE

People with hereditary angioedema (HAE) have several new therapeutic options to prevent and treat this debilitating genetic disease.

HAE is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway, but any organ can be affected. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger.

The inflammation can be disfiguring, debilitating or even life-threatening.  Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting.  Swelling in the airway can restrict breathing and lead to obstruction of the airway.

If left untreated, HAE can result in a mortality rate as high as 40% primarily due to upper airway obstruction.

Symptoms of HAE typically begin in childhood and worsen during puberty. Untreated individuals have an attack every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly.

HAE is estimated to affect 1 in 50,000 people worldwide.  7,000 people have been identified with the disease in North America.   It is caused by a deficiency or malfunction of C1 esterase inhibitor – a protein normally found in blood plasma.

Until recently in the US there were no specific treatments for HAE and individuals had to endure frequent grueling and potentially life-threatening attacks.

However in less than 6 months the FDA has approved three novel HAE drugs:

• Cinryze, (C1 esterase inhibitor [human]) approved to prevent HAE attacks.
• Berinert, (C1 esterase inhibitor [human]) approved for treating acute facial and abdominal HAE attacks
• Kalbitor, (ecallantide) approved for treating acute attacks in patients 16 yrs and older

Now that treatments are available, the next hurdle is to improve early recognition and diagnosis. It is estimated that HAE attacks account for approximately 15,000 to 30,000 emergency department visits per year.  But because symptoms of HAE may resemble appendicitis or other medical conditions, many patients undergo painful, often lengthy and expensive procedures and unnecessary surgery before their condition is eventually recognized.

We spoke to Dr. Michael Kaliner who provides care for one of the largest HAE patient populations in the country.  He told us, “As with so many other rare diseases, education is the key.  Physicians experienced in recognizing and treating HAE need to be talking to emergency room staff.”

As awareness of the condition is low, it is estimated that only 50% of HAE patients in the world are correctly diagnosed and managed today.  Word on Health hopes that this post will be the first step in increasing awareness.  SRxA and our expert Advisors, including some of the worlds leading authorities on HAE,  are ready to help manufacturers and patient support groups take the next steps. Contact us today for more information.