Hereditary angioedema

Other Names: 

familial angioneurotic edema; familial angioneurotic oedema; HAE; HANE; hereditary angioneurotic edema; hereditary angioneurotic oedema; hereditary bradykinine-induced angioedema; hereditary non histamine-induced angioedema

Summary

Hereditary angioedema (HAE) is a condition where people have recurrent episodes (also called attacks) of severe swelling of the skin and mucous membranes (the lining of some organs). These attacks generally become more frequent after puberty, and continue throughout life, often affecting the skin, gastrointestinal tract, and upper airway. The most common areas of the skin that are affected include the face (like lips and eyes), hands, arms, legs, genitals, and buttocks. While skin swelling can cause pain, dysfunction, and disfigurement, it is not considered dangerous. When the gastrointestinal tract is involved, this may cause symptoms such as nausea, vomiting, diarrhea, and abdominal pain. The upper airway (like larynx and tongue) is less commonly affected (less than 3% of attacks), but can cause upper airway obstruction, which can be dangerous. Most airway attacks resolve before complete airway obstruction. Attacks may involve one area or a combination of areas of the body and typically go away on their own within 2 to 5 days. While people with HAE have reported various triggers of attacks, common triggers for attacks include emotional stress, physical stress, and dental procedures. HAE may be caused by genetic changes (pathogenic variants) in the SERPING1 gene (also called the C1NH gene) or in the F12 gene. In some cases, the cause is not yet known. Inheritance is autosomal dominant, but not all people with a genetic change will develop symptoms.

About Hereditary angioedema

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

• Population Estimate:Fewer than 50,000 people in the U.S. have thisdisease.
• Symptoms:May start to appear at any time in life.
• Cause:This disease is caused by a change in the genetic material (DNA).
• Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.
• Categories:Genetic diseases

Genetic Mutations

Hereditary angioedema is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. Learn more about genetic diseases from the National Library of Medicine (NLM).

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.

Autosomal Dominant

Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.

People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

When Do Symptoms of Hereditary angioedema Begin?

Symptoms of this disease may start to appear at any time in life.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.