I have a little bit of down time today, so I thought I would finally write a description of Hereditary Angioedema. It is a tough illness to explain with several different factors, varying symptoms, and extremely complicated ways of testing and diagnosing.
Our body has a Complement System. Its purpose is to fight off illness, infections and inflammation.
The complement system includes C1q, C1r, C1s, C1 esterase inhibitor (C1-INH) - these 'trigger' the main (Lectin) pathway, which includes C2, C3, C4, and C5. The system is much more complicated, but for the purpose of this explanation, I will not go into exactly how things work.
There is also the terminal pathway, which includes C6, C7, C8, and C9.
In the main pathway, if there is a deficiency in one of the complements in the blood, then it can have a sort of domino-effect. It can create low or deficient amounts of every following complement in that pathway.
Depending on where the deficiency is, it can also have an effect on the terminal pathway, although it seems to be separate.
Deficiencies in the main pathway are characterized by issues with chronic inflammation, recurring infections (strep throat), and major difficulties fighting off illness and infection. Many people who have main pathway complement deficiencies also have Lupus, Arthritis, Inflammatory Bowel Disease, among others.
I have C1 Esterase Inhibitor Deficiency (which is the root cause of Hereditary Angioedema).
This disease is characterized by episodes of swelling that can occur in the skin, in the digestive tract, and in the respiratory tract. Skin episodes can create considerable swelling in the arms, legs, hands, feet, face, trunk, etc... Digestive tract episodes can lead to repetitive vomiting and severe abdominal pain. Respiratory tract episodes can vary from mild tightening in the larynx to a complete closing, which can (obviously) mimic an anaphylactic reaction.
These episodes usually last 2-3 days and can be brought on by very mild irritations such as:
Psychological stress (sadness, anger, excitement, anything that gets the adrenaline up), hormonal imbalances (usually having to do with changes in estrogen levels), physical injury or trauma, and dental work.
These episodes usually last for 2-3 days.
The biggest problem with these episodes is that for people with Hereditary Angioedema, the use of epinephrine, medications like Benadryl, or steroids will do virtually nothing to stop the swelling. In SOME cases it may slow it down, but because the cause is not an allergy, the mechanism is not the same, and therefore anti-allergy medications will not work. If someone with Hereditary Angioedema (HAE) starts to get laryngeal swelling, he/she must go to the Emergency Room in case his/her throat closes. Intubation must occur.
One of the common therapies for many with HAE is to take anti-anxiety medication. What this does is dulls any psychological stress that may be occurring that could cause an episode.
Here are some simple examples from my own life that have caused episodes:
- when I flew a plane
- when I spent an entire day at the waterpark at West Edmonton Mall
- going through a breakup
- being angry or upset about a bad day, a bad conversation, a frustrating doctor's appointment
- getting fillings put in
- getting excited about a night out
- attending a huge event - such as a wedding
I have had the opportunity to join a page on Facebook for people with HAE. What people don't seem to understand is that even ON medication (which I am not on for this disease yet due to red tape), most patients have several episodes a week.
If you have any particular questions, please feel free to email me.
This is the best explanation that I can offer so far.