• Fabry Disease
• HAE (Hereditary Angioedema)
• MLD (Metachromatic Leukodystrophy)
• Sanfilippo Syndrome (MPS III)

• Hereditary Angioedema
  • Overview
  • Disease Process
  • Signs and Symptoms
  • Other Types of Angioedema
  • Diagnosis
  • Inheritance
  • Management
• Personal Stories
• News Articles
• Resources

Hereditary AngioedemaNext Topic

One of several types of angioedema, hereditary angioedema (HAE) is a rare genetic disease characterized by recurrent sudden attacks of edema, or swelling, of the skin (including the hands, arms, feet, legs, thighs, face, or genitals), severe abdominal pain, vomiting, and potentially life-threatening swelling of the larynx. In HAE attacks, unlike in some other types of angioedema, allergic reactions such as hives and itching do not occur. However, patients often first notice tightness or tingling over the area of skin that will be affected by swelling before the HAE attack. HAE accounts for about 2% of all cases of angioedema.

HAE is usually caused by an inherited deficiency in a protein called C1 esterase inhibitor (C1-INH). Normally, C1-INH helps your body's immune system fight off infections and to control blood clotting and bleeding. In HAE, deficient C1-INH leads to an increase in a protein in your body called bradykinin. This increase in bradykinin causes blood vessels to become permeable (or "leaky") resulting in fluid buildup outside of blood vessels into the body tissues, and the characteristic symptoms of HAE.

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