juin 30, 2020
Plasma has been found to be an effective treatment for a number of rare diseases, and hereditary angioedema (HAE) is one of them. Hereditary angioedema is a genetic condition characterized by recurrent episodes of swelling of the skin and other parts of the body. Read on to learn more about hereditary angioedema and how plasma products are used to manage the condition.
What are the Symptoms of Hereditary Angioedema?
The symptoms of HAE typically begin in childhood and persist for the rest of a person’s life. The skin and tissue directly underneath the skin are usually the areas of the body most affected by swelling, though it can also happen on other parts of the body, including:
- Intestinal tract
- Mouth or throat
When recurrent episodes of severe skin swelling occur in the intestinal tract, nausea, abdominal pain, and vomiting may occur. Swelling in a person’s airway can lead to restricted breathing and potentially life-threatening obstruction. Symptoms of hereditary angioedema can worsen during puberty.
What are the Causes of Hereditary Angioedema?
Hereditary angioedema is an inherited disorder that individuals are born with. The most common form of HAE is caused by a single copy of an abnormal gene that can be inherited from either parent. The parent that carries the abnormal gene has a 50% chance of passing it on to their offspring, regardless of gender. Sometimes it can also occur due to a spontaneous new gene mutation.
Type I and type II HAE are caused by mutations in the C1NH gene, which is responsible for making a blood protein known as C1-inhibitor. Individuals with hereditary angioedema type I, the most common form, have a deficiency of this protein. Those with hereditary angioedema type II have normal levels of the protein, but they don’t function properly.
How is Hereditary Angioedema Diagnosed?
Recurrent episodes of severe swelling that aren’t able to be treated using antihistamines or steroid therapy are a telltale sign of HAE. Doctors will usually ask patients questions about their swelling and any allergies they may have, conduct a physical exam, and have a blood test done to confirm the diagnosis.
How is Hereditary Angioedema Treated?
Plasma-derived C1-INH products, like Haegarda and Kalbitor, have been proven to be an effective treatment for HEA. Many patients living with the disease rely on these plasma products to make their condition more manageable.
Since these products contain the C1-inhibitor (C1-INH) protein that the majority of patients with hereditary angioedema are lacking, by receiving regular treatments patients can correct their underlying deficiency and reduce inflammation in the body. These treatments can be injected or infused either in a clinical setting or at home.
With the right treatments, patients with hereditary angioedema can manage their condition and their quality of life can vastly improve as a result. To contribute to the creation of life-altering plasma treatments that people with disorders like HAE rely on, book an appointment at Canadian Plasma Resources today. Every donation helps.