Hereditary Angioedema Treatment
You may already know angioedema as a mild to moderate skin condition that is like hives. However, there is another, much rarer form of angioedema that can look very different to the untrained eye – hereditary angioedema. In this article, we'll not only look at symptoms, but we will look at hereditary angioedema treatment options too.
This condition affects the skin as well, but it can also have much more dangerous respiratory symptoms. Because hereditary angioedema is so rare, it is hard to find quality information on it. In this post, you will read everything you need to know about this rare illness.
Hereditary angioedema is a rare genetic disorder affecting an estimated one in 50,000 to 150,000 individuals worldwide. Unlike its milder, allergy-related counterpart, hereditary angioedema does not usually cause itching. Instead, it is characterized by periodic attacks of swelling in specific areas, usually on the face, limbs, or genitals. Swelling may also occur in the gastrointestinal tract or the airway, which can cause a range of other dangerous symptoms.
Hereditary angioedema occurs when a protein called the C1 inhibitor is inhibited or absent as the result of a genetic mutation. This protein affects blood vessels, and without it, the body allows fluid to escape from small vessels into other areas of the body, which is the source of the characteristic swelling.
As the name indicates, the disease can be inherited. On average, there is about a 50% chance of inheriting angioedema if one parent has the disease. In fact, a doctor diagnosing hereditary angioedema will usually ask whether family members have experienced similar symptoms.
Symptoms of Hereditary Angioedema
Because hereditary angioedema can affect different bodily systems, it can cause a variety of symptoms, many of which occur intermittently in response to triggers like stress, injury, illness, or even dental work.
First off, swelling in the skin can happen. This is the most common symptom. The swelling usually occurs on the face (particularly the lips and eyes), on the arms or legs, around the genitals, or on the buttocks.
Laryngeal edema can also occur. This refers to airway obstruction that can lead to death by asphyxiation. As the main cause of death for people who die of hereditary angioedema, this is by far the most dangerous consequence of the disease, but it is also quite rare.
Other symptoms include:
- Fatigue
- Headache
- Muscle aches
- Abdominal pain and nausea
- Diarrhea
- Hoarse throat or shortness of breath
- Mood swings
Some of these symptoms can occur in isolation or because of other conditions, but if you or a loved one experiences multiple instances of these symptoms, talk to your doctor.
Diagnosing Hereditary Angioedema
This disease can be difficult to diagnose because it is so rare. Some doctors may not have even heard of it. Delays in diagnosis of hereditary angioedema used to take up to 20 years from the onset of symptoms. Today, about 40% of people are accurately diagnosed within three years, but about a third of people still experience delays of 10 years or more.
If you think you or a loved one may have this genetic disorder, it is important to keep track of your symptoms carefully and come prepared when you go to your doctor. Your doctor may not know about the disease, so it may take some time to get them on the same page.
After assessing symptoms and family history, a diagnosis of hereditary angioedema can be confirmed by blood test.
Treating
Hereditary Angioedema
Like most genetic disorders, this one cannot be cured. However, there are medications available for acute attacks. These drugs generally focus on increasing the levels of C1 inhibitor, the protein missing or malfunctioning in patients with hereditary angioedema.
In severe attacks where swelling is occurring in the airway, emergency treatments like intubation may be necessary. Oxygen or IV fluids may also be needed. While there is always a risk of airway obstruction during attacks, these risks can be minimized with medication and with good self-care.
Hereditary Angioedema Treatment Options
Like all chronic conditions, living well with this condition is a matter of good management. The most important thing you can do is know yourself and your triggers. Keeping a journal of your symptoms can help you look for patterns. You should also talk to your doctor before taking any new medications or having any dental procedures that could trigger an attack of angioedema.
Remember, even if you are managing your illness well, this condition always carries the risk of airway obstruction. Any swelling in the throat, even if you can still breathe, constitutes an instant emergency.
Though managing the risks can take work, and it can be difficult to get a diagnosis to begin with, people with this disease can live long and active lives, but the most important part of that is getting a diagnosis and seeking treatment. If you believe you or a loved one may have hereditary angioedema, do not wait. Talk to your doctor as soon as you can.