Hereditary Angioedema patients are a global family tied together by the need to reduce the time it takes to diagnose and treat this rare disease.
By Henrik Balle Boysen
Hereditary Angioedema International (HAEi) is a non-profit global network of national hereditary angioedema (HAE) patient associations for C1-Inhibitor deficiencies. We are dedicated to raising awareness of HAE and the people it affects around the world.
We strive to improve the time it takes to diagnose HAE and facilitate access to and reimbursement for life saving HAE therapies, which will enable lifelong health for all patients no matter where they live.
HAE symptoms include episodes of edema (swelling) in various body parts including the hands, feet, face and airway. In addition, patients often have bouts of excruciating abdominal pain, nausea and vomiting that is caused by swelling in the intestinal wall. Swelling in the throat is particularly dangerous because it can lead to death by suffocation.
The global prevalence of HAE, which is a rare disease, is still unknown. We estimate it to be approximately 1 in 30,000, which means that around a quarter million people worldwide suffer from this potentially life-threatening deficiency.
Because the disease is very rare, it is not uncommon for patients to remain undiagnosed for many years. Unnecessary exploratory surgery has been performed on numerous patients experiencing gastrointestinal edema because abdominal HAE attacks can mimic other acute abdominal conditions such as appendicitis and diverticulitis. Before therapy became available, the mortality rate for HAE was reportedly as high as 30 percent. What’s more, research confirms that deaths from HAE are even higher in undiagnosed patients.
Caused by defective gene
HAE patients have a defect in the gene that controls a blood protein called C1-Inhibitor. This genetic defect results in production of either inadequate or non-functioning C1-Inhibitor protein. C1-Inhibitor helps to regulate the complex biochemical interactions of blood-based systems involved in fighting disease, inflammatory response and coagulation. Because defective C1-Inhibitor does not adequately perform its regulatory function, a biochemical imbalance can occur and produce unwanted peptides that induce the capillaries to release fluids into surrounding tissue, thereby causing edema.
As a global umbrella organization, our objective is to develop a network of member organizations who advocate for HAE awareness and access to modern therapy. Currently, HAEi is represented in 52 countries worldwide.
In some countries we have fairly large member organizations while in others there are a few enthusiastic advocates. The prospect for expanding global access to HAE treatments motivates us to inspire the formation of new HAE advocacy groups, and to help existing member organizations expand their activities.
Currently there are five modern HAE therapies that are approved to treat HAE – two plasma derived and one recombinant C1- Inhibitor, a bradykinin receptor antagonist, and a kallikrein inhibitor. Unfortunately, there is significant variation in access to these medicines throughout the world. Therefore, patients in many countries are limited to short and/or long-term prophylactic treatment with attenuated androgens or tranexamic acid. Tragically, there are altogether too many countries with no available HAE treatments.
First-of-its-kind medication distribution program
Thanks to the recent launch of the HAEi Global Access Program (HAEi GAP), however, thousands of patients suffering from HAE can now gain access to a modern HAE therapy for the first time. The program provides an opportunity and a mechanism for physicians to bring modern HAE medication to their patients in countries where these therapies are otherwise unavailable. It is the first time that a patient group has initiated this type of medication distribution program. We are extremely proud to have established HAEi GAP, and will continue to work with manufacturers to further expand the program.
HAEi spends every day striving to find new ways to meet the needs of patients with HAE all over the world. The theme for hae day 🙂 is, “Many Faces, One Family,” and we truly consider ourselves one big global family.
Henrik Balle Boysen is Executive Director of HAEi.