For the General Public

Have you ever had swelling where your eyelids and lips and other parts of your face and limbs suddenly swelled up and then returned to normal after 3 or 4 days?

If any of your blood relatives have those symptoms, then you are likely to have hereditary angioedema (HAE).  In addition, you may have HAE even if no one else in your family has symptoms.  This is because there are differences among individuals, so some people with HAE do not exhibit obvious symptoms.  If you are taking medication, then in some instances the symptoms may be caused by the medication and not HAE.  There are also instances where edema of sudden onset develops without an obvious cause.

If you sometimes have swelling as well as pain in your abdomen or shortness of breath for some unknown reason, then during your next episode you could develop swelling in your larynx that leaves you unable to breathe, potentially endangering your life.  However, treatment and responses can be decided if the cause of that swelling is clearly determined.

You will probably be diagnosed with Quincke's edema.  But Quincke's edema is simply another name for edema of sudden onset.  Unfortunately, “edema of sudden onset” is often confused with “Quincke's edema,” which simply means “edema of unknown origin.”  Please feel free to consult us regarding your swelling.

There are various causes of swelling (edema)

A diagrammatic representation of edema

Swelling occurs when, for various reasons, water leaks out of blood vessels and accumulates in tissue.
Even healthy people have experienced swelling once after doing a job that requires you to stand (and especially at night), the day after drinking alcohol, or during pregnancy.
What is being talked about here is not the swelling that occurs in healthy people but swelling that occurs when something is wrong with the body.
Swelling is largely divided into 2 forms, swelling that occurs throughout the body and swelling that occurs in only certain parts of the body.

Generalized:If an individual has a chronic disease of the heart, liver, or kidneys, then water will leak from blood vessels like in the diagram on the right and swelling will develop in the following manner:
① The condition is chronic, ② the extent of swelling is largely symmetrical, ③ if the skin is pressed with a finger, an indentation (a “pit”) will remain

Localized:Localized swelling also has various causes, but a condition known as hereditary angioedema (HAE) must not be overlooked.  In addition, episodic edema of unknown origin, known as Quincke's edema, also causes localized swelling.






A diagrammatic representation of
swelling due to HAE

With HAE, an inflammatory substance known as bradykinin causes swelling by weakening the walls of blood vessels, which allows water to leak out.  This occurs in various locations throughout the body.
Typically, there is no itching or redness, but affected individuals can have skin discomfort or hives (urticaria) as well.

Characteristics of swelling due to HAE include:

① Swelling that is episodic, localized, and asymmetrical

② Symptoms will fully develop in several minutes to several hours,

③ Swelling readily develops in the eyelids, lips, larynx, limbs, and gastrointestinal tract

④ Swelling will normally disappear completely in 2-3 days.

When swelling develops in the larynx, it causes respiratory distress or suffocation.  When it develops in the gastrointestinal tract, it causes severe abdominal pain.

Even if swelling is episodic and localized, it can be due to HAE resulting from genetic mutations or it can be due to causes other than genetic mutations.  This means that there is a major difference in terms of whether that swelling is “hereditary or not.”  If similar swelling is noted in family members, then HAE is more likely.  However, caution is required since swelling may sometimes not be noted in family members even though they have HAE.

Angioedema (Quincke's edema) and hereditary angioedema