- by Dr Sachith Abraham
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- Jan 25 2018
Hereditary Angioedema: Causes and Symptoms
What is HAE?
It causes swelling under the skin and it is a very rare genetic condition. It can happen in different parts of your body, the most common areas are the limbs, face, intestinal tract, and airway. It is associated with episodic attacks of edema formation that can have catastrophic consequences. Laryngeal edema can result in asphyxiation, abdominal angioedema attacks can lead to unnecessary surgery and delay in diagnosis, as well as to narcotic dependence due to severe pain and cutaneous attacks can be disfiguring and disabling.
It is caused by a low level or improper function of a protein called the C1 inhibitor. With HAE, the blood vessels are affected. An HAE attack can result in rapid swelling of the hands, feet, limbs, face, intestinal tract, larynx, or trachea. Attacks of swelling can become more severe in late childhood and adolescence.
Dental procedures, sickness, and surgery may trigger HAE attacks.
Some HAE attacks will start with early warning symptoms several hours before swelling begins. Symptoms may include:
- Painless, non-itchy rash
- Tingling skin
- Skin tightness
- Sudden mood changes
Types of HAE
HAE is classified into 3 types based on what problem the genetic defect causes.
- A person can have low levels of C1-INH in the body, called as type I HAE.
- Poorly functioning C1-INH called as type II HAE.
- HAE with normal functioning C1-INH called as type III HAE.
It is diagnosed by the patient’s appearance, family history, blood testing for serum C4 levels, and other complementary levels such as C1, C2, and C4. Ultrasound, CT scan, and X-rays may demonstrate swelling.
Treatment follows the guidelines set out by the World Allergy Organization (WAO) by using C1-INH or other drugs to treat hereditary angioedema.
The guidelines are:
- Assess all patients suspected of having HAE-I/II for blood levels of C4, C1 esterase inhibitor (C-INH) protein, and C1-INH function.
- Consider on-demand treatment for all hereditary angioedema attacks that (1) result in debilitation/dysfunction and/or (2) involve the face, neck, or abdomen. Attacks affecting the upper airways must be treated.
- Treat all hereditary angioedema attacks as early as possible with C1-INH, Kalbitor (ecallantide), or Firazyr (icatibant); do not use oral anti-fibrinolytic as on-demand treatment.
- Consider tracheotomy early in progressive upper airway edema.
- Administer adjuvant therapy in hereditary angioedema attacks when indicated, but use specific therapies without delay when indicated.
- All HAE-I/II patients should have on-demand treatment for two attacks and carry their on-demand treatment at all times.
- Plasma-derived C1-INH is the preferred on-demand therapy for HAE-I/II attacks in children and for pregnant women or women who are breastfeeding.
- All individuals with HAE should have an action plan, product available to treat HAE attacks, and an HAE identification card.
- Self-administration of treatment should be taught to all individuals who are licensed for self-administration to give or be given the on-demand treatment of HAE.
- All individuals with HAE should have at least one annual assessment by an HAE specialist.
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