Lisa's Journey with Hereditary Angioedema


“Everyone’s journey is a little different,” admits Lisa, “though it can still take over ten years to get a proper diagnosis. Until then, you go to the hospital and the doctors won’t listen to you. This disease forces you to know your own body… and to appreciate how fragile life is.”


Lisa was dagnosed with Hereditary Angioedema Type III (HAE III), an illness she had experienced symptoms of unbeknownst since her mid-40s. HAE III occurs mainly in women and is characterized by acute edema in subcutaneous tissues, viscera and the upper airway. Edemas, episodes of rapid tissue swelling, are triggered by increased permeability of the blood vessels in response to elevated levels of bradykinin, a potent vasodilator in the body.


Although similar to the other two forms of Hereditary Angioedema, HAE III poses its own challenges, notably the lack of a specific treatment protocol. Lisa’s HAE is by far the rarest form of the disease, but all three types have similar symptoms, characterized by the onset of unpredictable attacks.


Attacks, which can be fatal, occur rapidly and are often brought on by increased estrogen levels for HAE III patients. Because of the constant risk, Lisa is attentive to preventative care and avoids activities with the potential risk of blunt trauma. She is also highly self-sufficient and chooses to administer her own infusions instead of relying on an infusion center or home nurse. “I don't want to be beholden to anybody. This is just a way of life and it’s important that I am able to take care of myself.”


Lisa is also thriving on a personal level facilitated by artistic expression “I dream about painting, it always cheers me up,” she exclaims. “I always think in abstract and love colorful geometry, maybe because I grew up in a parallelogram.” Within the palette of paints, Lisa has found an outlet for therapeutic healing outside the medical world.


Although fiercely independent, Lisa admits that thriving with HAE isn’t something she can do alone. “If my throat is swollen, I need someone to communicate for me. Everybody needs support with this disease.” Lisa appreciates having a support system that includes meaningful friendships within the HAE community; connections strengthened by attending national conferences and participating in awareness campaigns. “We educate each other and that education helps to save lives.”

Part of that education process includes encouraging her daughters to be proactive about their own health, acknowledging the possibility that they too could develop HAE. Although the thought frightens her, Lisa’s lack of intimidation shines true. “Some days I feel like HAE is a terrorist inside my body—it can strike at any time—but I refuse to let it stop me from doing what I need to do.”

What is Hereditary Angioedema?

Hereditary Angioedema (HAE) is a very rare and potentially life-threatening genetic condition that occurs in about 1 in 10,000 to 1 in 50,000 people. 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. Airway swelling is particularly dangerous and can lead to death by asphyxiation.


HAE patients have a defect in the gene that controls a blood protein called C1 Inhibitor. The genetic defect results in production of either inadequate or non-functioning C1-Inhibitor protein. Normal C1-Inhibitor helps to regulate the complex biochemical interactions of blood-based systems involved in disease fighting, 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.

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