Table of ContentsView AllTable of ContentsTypesCausesSigns and SymptomsTriggersTreatmentCoping
Table of ContentsView All
View All
Table of Contents
Types
Causes
Signs and Symptoms
Triggers
Treatment
Coping
Hereditary angioedema (HAE) is a rare genetic disorder that affects theimmune system. It causes attacks of severe swelling in the skin, hands, feet, face, and airways. These attacks usually begin in childhood but tend to worsen after puberty.
HAE is a lifelong genetic condition that affects approximately one in 50,000 to 150,000 individuals worldwide.In the United States, it is thought that the disorder affects one in 50,000 people.Although these figures are estimated, the true prevalence of HAE remains unknown.
The severity of HAE varies significantly from person to person, and there are several types of the condition.This article will inform parents about the condition, including types, inheritance, symptoms, triggers, treatment, and supporting a child with HAE.
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Types of HAE
People with HAE have a genetic defect in a protein called a C1 inhibitor. C1 inhibitor is found in the blood and works with the body’s immune system to balance the chemicals used to fight illness and respond to injuries.
There are three types of HAE:
HAE type I is the most common form of this genetic condition.It accounts for 85% of cases.
Causes of HAE
Inheritance of HAE isautosomal dominant. This means that the genetic condition occurs when a child inherits one copy of a defective gene from one parent.For example, if a child has one parent with the defective gene, that child has a 50% chance of inheriting that defective gene.
Occasionally, HAE can occur in children whose parents do not have HAE or a defective gene. In these children, a spontaneous mutation of the gene occurs, causing HAE.The US Hereditary Angioedema Association discusses that up to 25% of HAE diagnoses result from a random mutation of the C1 Inhibitor gene.
Will Your Child Have HAE?
If you or your partner has an HAE diagnosis, then your child has a 50-50 chance of being born with the condition.
Genetic Counseling
A genetic counselor can give you information about how a genetic condition can affect your family. They can discuss a wide range of topics with you, including:
If you are not sure how to find a genetic counselor, speak to your family physician for guidance. You can also search for a genetic counselor on theNational Society of Genetic Counselors directory.
The main symptom of HAE is swelling due to a buildup of excess fluid (edema). The areas of the body most commonly affected are the hands, feet, eyelids, lips, genitals, and the mucous membranes that line the respiratory and digestive tracts.
A rash or itching does not accompany the swelling as it would in an allergic reaction. Instead, it tends to be hard and painful.Symptoms seen in different parts of the body include:
The severity of attacks varies considerably, even within affected families. Less common symptoms have been identified, including neurological, pulmonary (lung), renal (kidney), urinary, and musculoskeletal symptoms.
Potential Triggers
Although symptoms can happen spontaneously, potential triggers have been identified. The most common triggers include:
Some people have also reported that symptoms are triggered following prolonged activities such as typing, lengthy periods of writing, shoveling, and hammering.
When to Call 911If your child begins to experience the slightest hint of throat swelling, you should call 911 and seek immediate treatment. Swelling in the throat can block the airway, which is life-threatening.Medicines that treat swelling from allergies (such as anepinephrine injector, corticosteroids, orantihistamines) arenot effectivetreatments for HAE.
When to Call 911
If your child begins to experience the slightest hint of throat swelling, you should call 911 and seek immediate treatment. Swelling in the throat can block the airway, which is life-threatening.Medicines that treat swelling from allergies (such as anepinephrine injector, corticosteroids, orantihistamines) arenot effectivetreatments for HAE.
If your child begins to experience the slightest hint of throat swelling, you should call 911 and seek immediate treatment. Swelling in the throat can block the airway, which is life-threatening.
Medicines that treat swelling from allergies (such as anepinephrine injector, corticosteroids, orantihistamines) arenot effectivetreatments for HAE.
Preventative Treatment
How to Support Your Child With HAE
Learning to cope with HAE is hard for children and teens. They experience physical symptoms such as pain and discomfort, along with the accompanying emotions such as fear, sadness, and anxiety. Talking to your child is the first step to supporting those living with HAE.
By talking with your child, you can help them learn coping strategies and prepare them for an episode of symptoms. If you or your partner has HAE, share your experiences with your child so they won’t feel as worried and afraid if they witness you having an HAE attack.
There are supporting organizations that can help you and your child, such as the US Hereditary Angioedema Association. They offer advice and tool kits to support parents with children of all ages. Information is also available to help you discuss HAE with your child’s teachers, school nurse, and other people in their life.
Encourage your child to ask you questions about HAE. If you are worried about not having the answers, you can seek help from your healthcare provider to get answers.
It’s also important to encourage your child to speak out and tell an adult if they are having symptoms, regardless of the setting, especially any symptoms in the throat, which can be dangerous.
Reassure your child that there are treatments to help them live life to the fullest. Explain that HAE should not stop them from pursuing and achieving their dreams. There is a range of treatments to help both prevent and treat HAE attacks.
Raising a child with a genetic condition can be challenging for any parent. As well as supporting your child, make sure you get help too if you need it. Reach out to your healthcare provider, peers, or a support group if you feel stressed, anxious, worried, or depressed. Talking to families who also live with HAE can be a very beneficial way to cope.
Summary
Hereditary angioedema is a rare genetic disorder that produces attacks of severe swelling. It can be inherited or result from a new mutation in an individual. Swelling affecting the airway can be life-threatening.
Medications to manage the condition include those that can be given in case of a severe attack, as well as those that are given to prevent attacks. Parents can discuss the condition with their child and encourage them to report any symptoms immediately.
A Word From Verywell
Before 2008, treatment options were limited for HAE, but now there are several effective treatments to help manage the condition.You can also administer many medicines at home after instruction from a healthcare professional. With treatments continuously developing, it is becoming easier to manage life with HAE.
10 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Genetic and Rare Diseases Information Center.Hereditary angioedema.National Organization of Rare Disorders.Hereditary angioedema.Lumry W.Overview of epidemiology, pathophysiology, and disease progression in hereditary angioedema.Am J Manag Care. 2013;19(7):S103-S110.Lumry W, Settipane R.Hereditary angioedema: epidemiology and burden of disease.Allergy Asthma Proc. 2020;41(6):S08-S13. doi:10.2500/aap.2020.41.200050US Hereditary Angioedema Association.About hereditary angioedema.HAE UK.Children and young people.Centers for Disease Control and Prevention.Genetic counseling.CSL Behring.Berinert self-administration.U.S. Hereditary Angioedema Association.Treatments.Busse PJ, Christiansen SC, Riedl MA, et al.US HAEA Medical Advisory Board 2020 guidelines for the management of hereditary angioedema.J Allergy Clin Immunol Pract. 2021;9(1):132-150.e3. doi:10.1016/j.jaip.2020.08.046
10 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Genetic and Rare Diseases Information Center.Hereditary angioedema.National Organization of Rare Disorders.Hereditary angioedema.Lumry W.Overview of epidemiology, pathophysiology, and disease progression in hereditary angioedema.Am J Manag Care. 2013;19(7):S103-S110.Lumry W, Settipane R.Hereditary angioedema: epidemiology and burden of disease.Allergy Asthma Proc. 2020;41(6):S08-S13. doi:10.2500/aap.2020.41.200050US Hereditary Angioedema Association.About hereditary angioedema.HAE UK.Children and young people.Centers for Disease Control and Prevention.Genetic counseling.CSL Behring.Berinert self-administration.U.S. Hereditary Angioedema Association.Treatments.Busse PJ, Christiansen SC, Riedl MA, et al.US HAEA Medical Advisory Board 2020 guidelines for the management of hereditary angioedema.J Allergy Clin Immunol Pract. 2021;9(1):132-150.e3. doi:10.1016/j.jaip.2020.08.046
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Genetic and Rare Diseases Information Center.Hereditary angioedema.National Organization of Rare Disorders.Hereditary angioedema.Lumry W.Overview of epidemiology, pathophysiology, and disease progression in hereditary angioedema.Am J Manag Care. 2013;19(7):S103-S110.Lumry W, Settipane R.Hereditary angioedema: epidemiology and burden of disease.Allergy Asthma Proc. 2020;41(6):S08-S13. doi:10.2500/aap.2020.41.200050US Hereditary Angioedema Association.About hereditary angioedema.HAE UK.Children and young people.Centers for Disease Control and Prevention.Genetic counseling.CSL Behring.Berinert self-administration.U.S. Hereditary Angioedema Association.Treatments.Busse PJ, Christiansen SC, Riedl MA, et al.US HAEA Medical Advisory Board 2020 guidelines for the management of hereditary angioedema.J Allergy Clin Immunol Pract. 2021;9(1):132-150.e3. doi:10.1016/j.jaip.2020.08.046
Genetic and Rare Diseases Information Center.Hereditary angioedema.
National Organization of Rare Disorders.Hereditary angioedema.
Lumry W.Overview of epidemiology, pathophysiology, and disease progression in hereditary angioedema.Am J Manag Care. 2013;19(7):S103-S110.
Lumry W, Settipane R.Hereditary angioedema: epidemiology and burden of disease.Allergy Asthma Proc. 2020;41(6):S08-S13. doi:10.2500/aap.2020.41.200050
US Hereditary Angioedema Association.About hereditary angioedema.
HAE UK.Children and young people.
Centers for Disease Control and Prevention.Genetic counseling.
CSL Behring.Berinert self-administration.
U.S. Hereditary Angioedema Association.Treatments.
Busse PJ, Christiansen SC, Riedl MA, et al.US HAEA Medical Advisory Board 2020 guidelines for the management of hereditary angioedema.J Allergy Clin Immunol Pract. 2021;9(1):132-150.e3. doi:10.1016/j.jaip.2020.08.046
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