What is Hereditary Angioedema?

Hereditary angioedema is a genetic disorder with sufferers experiencing skin swelling and swelling of the lung and gut linings. It may also occur elsewhere in the body, including in the throat and creating a potentially more dangerous situation with airway constriction. Those with the disorder will experience bouts of it, and then the swelling subsides for longer stretches of time. Some people will have bouts of hereditary angioedema as often as every 1 or 2 weeks, while for others they may occur only a handful of times a year. 

It is in their teen years that common for signs of the disorder tend to first appear for people, and then symptoms become more pronounced as they become adults. There is no cure for hereditary angioedema, but it is a manageable disorder.

What Causes Hereditary Angioedema?

Hereditary angioedema occurs because blood protein in the body is imbalanced. This is the result of a faulty C1 inhibitor gene. Insufficient blood protein is what causes hereditary angioedema most of the time, but it may also be possible that there is enough of the protein but it isn’t working as it should. 

If one of your parents has had this disorder you are going to be 50% more likely to have it yourself. This is why it is referred to as hereditary angioedema. It is uncommon for people who don’t have a familial trait for it. 

Hereditary Angioedema Symptoms

Excessive swelling of skin or tissue is the most primary of hereditary angioedema symptoms. This swelling is experienced in the mouth or throat, feet, hands, face, genitals, or belly. Belly swelling can lead to secondary symptoms of pain, nausea, diarrhea, or vomiting. 

It is also worth noting that there are symptoms that may be seen before the swelling occurs. These include fatigue, muscle ache, headache, tingling sensations in the skin, hoarseness, and even mood changes. Triggers for hereditary angioedema include stress and anxiety, surgery, illnesses, physical exertion, and medication use. 

Hereditary Angioedema Treatment

The standard approach for hereditary angioedema treatment is to have the person begin on a course of medication with Orladeyo or Firazyr.  A doctor may also recommend receiving supplementary oxygen or IV fluids to lessen the severity of hereditary angioedema. 

Sufferers will also do well to identify which triggers are most likely to cause bouts of the disorder, and then avoid them as best as possible.