HAE – A Life-Threatening Disease

Hereditary angioedema (HAE) is a debilitating, potentially life-threatening genetic disease characterized by recurring attacks of edema (swelling) in various parts of the body, including the upper airways, hands, feet, face, and abdomen. HAE attacks affecting the hands, face, and feet can be disfiguring, whereas abdominal attacks, caused by swelling of the intestinal wall, are marked by severe stomach pain. Attacks that affect the throat can be life-threatening, as swelling can constrict the larynx or enlarge the tongue and can quickly lead to suffocation.

Although attacks often occur without a recognizable trigger, among the known conditions that may elicit an attack are trauma and physical or psychological stress. Patients have pinpointed insect bites, specific foods among other causes for their attacks.  Regardless of the cause, however, the symptoms may last from two to five days if left untreated. It has been reported that the escalation period from the onset of symptoms to a full-blown attack ranges from twenty minutes to as long as fourteen hours and that patients experience an average of twelve attacks per year.

HAE - Diagnosis and Potential New Treatment

Because HAE is a dominant inherited disease, a parent has a 50% probability of passing the condition on to their child.  It is estimated that HAE affects approximately 1 in 50,000 to 1 in 10,000 people worldwide.  Currently, there is no specific treatment for HAE available in the United States and only one approved therapy, which uses a blood product administered intravenously, is available in a limited number of countries.

Although HAE can be detected using a simple blood test, often the disease is misdiagnosed because many HAE symptoms are also associated with a range of common conditions such as allergies, headaches, colic, appendicitis, or other gastrointestinal illnesses. Therefore, if symptoms are not recurrent or do not recur in the same physical location, diagnosis is difficult from the outset. Increasing HAE awareness is a key objective. Once an effective therapy for HAE becomes available, physicians are likely to be better informed about the disease and more likely to consider it as a possible diagnosis. 

A significant portion of HAE attacks require medical attention and hospitalization for the treatment of dehydration and pain management due to intestinal edema.  Since there is no approved product for the treatment of HAE in the United States at this time, a number of severely affected adult patients rely upon treatment with androgen derivatives such as danazol to reduce the frequency and severity of their attacks. However, these treatments can have adverse side effects, and despite using them, the majority of patients continue to experience HAE attacks. The current lack of approved products for acute and prophylactic treatment of HAE clearly demonstrates the need for new treatment options.

For further information visit: www.hae-network.info.