Dr. Stephen Betschel was lead author of new Canadian guidelines for management of rare disease hereditary angioedema
Toronto, May 16, 2015
By Leslie Shepherd
A series of photos showing the progression of facial swelling in a patient with HAE. All images reprinted with permission of www.haeimages.com
Dr. Stephen Betschel, an allergist and immunologist at St. Michael's Hospital, was the lead author for a team of international experts that developed new Canadian guidelines for managing the rare genetic disease, hereditary angioedema.
HAE affects about one in every 50,000 people, or 700 Canadians. The disorder results in recurrent but unpredictable episodes of acute swelling, or edema, that are often painful and sometimes disfiguring. They are often triggered by stress and can affect any part of the body, but most commonly occur in the face, gastrointestinal tract, extremities (hands, arms, feet, legs) or genitals. When the swelling occurs in the throat, it can be life threatening. Attacks usually occur at least once a month and last several days, resulting in 20 to 100 days of incapacitation a year, which can severely impact the personal and professional lives of those who have it and their families.
A child of a parent with HAE has a 50 per cent chance of also having the disease. Symptoms can begin in childhood, but about 25 per cent of cases start spontaneously in adults.
Dr. Betschel said he hoped the recent publication of new Canadian guidelines for management of HAE would lead to greater awareness of HAE in the medical community (including dentists, whose routine interventions can trigger HAE swelling attacks), thus speeding diagnosis and access to appropriate treatment for patients. HAE can be fatal in about one-third of undisagnosed cases.
He said the lack of awareness of the disease and recognition of the symptoms means patients can wait eight or more years for a correct diagnosis, which must be confirmed by genetic testing. The most common forms of HAE are caused by genetic mutation that leads to a dysfunction or deficiency in a protein in the body known as the C1 inhibitor, which controls inflammation.
Often patients take ineffective drugs and even undergo unnecessary surgeries because HAE symptoms can resemble appendicitis and other abdominal problems. A delayed diagnosis also means that patients don't have access to available treatments to lessen the impact of swelling. (For more information, go to haecanada.org, Hereditary Angioedema Canada’s website.)
The new Canadian HAE guidelines were written by 33 Canadian, American and European experts who reviewed the latest scientific information and evidence to develop 23 recommendations, including evaluations of the several different therapies to treat and prevent attacks. The guidelines recommend early treatment of attacks to reduce their impact and training for patients to promptly administer their own therapy as soon as possible after the start of an attack. They also recommend that use of preventive therapies over the long term be individualized by the patient with his or her HAE specialist.
Current treatment for HAE include a man-made form of the defective protein, which patients receive intravenously, sometimes at home, or an injectable drug made from blood products, which carries the risk of transmitting blood-borne illnesses.
"We are optimistic for what this could mean for people living with HAE,” said Dr. Betschel, who is also president of the Canadian Hereditary Angioedema Network, an organization of physicians who treat or are interested in HAE and which developed the new guidelines.
Dr. Stephen Betschel
“These new guidelines will contribute to a more consistent approach across Canada for the management of this disease. We also hope the publication will raise awareness in the broader medical community of HAE and the need to be vigilant for its symptoms even though it is a rare disorder.”
About St. Michael's Hospital
St. Michael’s Hospital provides compassionate care to all who enter its doors. The hospital also provides outstanding medical education to future health care professionals in 27 academic disciplines. Critical care and trauma, heart disease, neurosurgery, diabetes, cancer care, care of the homeless and global health are among the hospital’s recognized areas of expertise. Through the Keenan Research Centre and the Li Ka Shing International Healthcare Education Centre, which make up the Li Ka Shing Knowledge Institute, research and education at St. Michael's Hospital are recognized and make an impact around the world. Founded in 1892, the hospital is fully affiliated with the University of Toronto.
For more information, or to arrange an interview with Dr. Betschel, please contact:
Manager, Media Strategy, St. Michael's Hospital