Holding to its tenets of Research, Advocacy, Compassion and Empowerment, the US HAEA has created this groundbreaking educational activity; The US Hereditary Angioedema Association Educational Initiative. This educational activity is presented by a faculty of leading HAE experts from the United States and encompasses the most current scientific data and clinical understanding in the areas of recognition, diagnosis and therapeutic management of Hereditary Angioedema (HAE).

An increased awareness of HAE as a clinical condition is an essential first step. Even more importantly, the ability of healthcare providers to make the differential diagnosis of HAE will be the only means to end continued suffering due to untreated swelling episodes and to increase patients' quality of life. It is the sincere hope of the HAEA, their physician partners and the greater than 6500 patients and family members reached by the US HAEA, that this program will not only raise the level of knowledge of Hereditary Angioedema, but that it will also assist healthcare practitioners to understand new treatment paradigms that can positively change the lives of their HAE patients.

In addition to the accredited CE program for all healthcare professionals, the HAEA has created a Patient Empowerment program. These two distinct but related activities have been developed to increase cooperation between the healthcare practitioner and the patient community. The panel for the Patient Empowerment program is comprised of thought leaders from the HAE medical community and HAE patients. This program offers patients, their families and medical professionals involved in their care, important insights into HAE from the patient perspective. It also offers a more effective and empowered approach for patients and patient caregivers to become more active in the management of their HAE medical care.

Initiative Rationale

Hereditary angioedema (HAE) is a rare and potentially fatal genetic condition involving a deficiency or dysfunction of C1 inhibitor (C1-INH). HAE is an autosomal dominant disease (Mendelian Inheritance in Man #106100) that occurs in approximately 1/10,000 to 1/50,000 individuals with no racial or gender predilection. The symptoms of HAE usually present in early childhood, worsen at puberty, persist throughout life, and are unpredictable. The frequency of attacks ranges from frequent —every 3 days— to only rarely. Trauma (including dental procedures), stress, fever, and infection are just some of a large range of HAE triggers. Many attacks, however, occur without an identifiable trigger. HAE typically manifests as cutaneous, intra-abdominal, facial, laryngeal or genital swelling. Abdominal attacks can cause severe pain, and mortality from edema-induced airway closure has been reported to be as high as 30%.

Despite its often dramatic presentation, HAE is extremely rare and tends to mimic other disease states which may delay the diagnosis or result in a misdiagnosis of HAE. In spite of increased educational efforts, the average time from the initial swelling episode to diagnosis still approaches a full decade.

The condition was described in 1876 as "giant urticaria" by John Laws Milton and fully described by William Osler in 1888 as angio-neurotic edema. In the early 1960s, Donaldson and Evans demonstrated that patients with HAE were lacking the serum inhibitor directed against the first component of the complement system, C1 esterase inhibitor, now referred to as C1 inhibitor.

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Initiative Rationale (continued)

At the end of the 1960s, Donaldson (et al) found that the permeability-increasing factor in the plasma of patients during acute HAE also displayed kinin-like activity. Since that time research has focused on the detailed exploration of the genetics of HAE. By the end of the twentieth century, more than 100 different C1-INH gene mutations had been described in HAE patients. Currently 150 mutations of the gene located in the q12-q13 sub-region of chromosome 11 have been identified in patients with HAE. However, specific gene mutations do not seem to correlate with disease variability or severity.

Hereditary Angioedema results from a genetic deficiency of the blood-based protein C1 inhibitor (C1-INH). Whether a low quantity of C1-INH is made or the C1-INH is defective, it doesn't perform its normal regulatory function. A biochemical imbalance occurs producing a vasoactive peptide that causes capillaries to leak into surrounding tissues, causing edema that can be incapacitating.

A vast number of HAE patients will be misdiagnosed with histamine-mediated allergic angioedema, often resulting in unnecessary exploratory surgical procedures. Non-effective pharmacologic management results in loss of work and school time. An accurate diagnosis is crucial to the social, economic, emotional as well as physical well-being of every HAE patient.

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About the HAEA

The US Hereditary Angioedema Association (US HAEA) represents a new breed of rare disease patient advocacy organization. In 1999, one patient's personal Internet page that chronicled one family's struggle to cope with HAE grew into a national patient group that shared their HAE-related experiences through an online discussion group. Group members then joined together to organize as the US HAEA. Our Mission Statement provides a clear understanding of our goals and purpose: Research, Advocacy, Compassion, Empowerment.

The US HAEA's growth since its inception has been exponential, but our core principles remain the same – caring, compassion and kindness. As we look ahead to the future, the US HAEA is proud to be known as a state-of-the-art patient services and research organization.

New educational initiatives, such as Managing HAE in the US – A Changing Landscape, are just some of the ways the Association keeps up with the quickly evolving field of HAE. We encourage you to learn more about the US HAEA's services and programs, including extensive Patient Services, a Scientific Registry to study HAE genetics and find a cure, and an Image Repository whose images will increase awareness and understanding of this disease.

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