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Disease Profile
Hereditary angioedema
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
All ages
ICD-10
D84.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
HAE; Hereditary angioneurotic edema; HANE;
Summary
Hereditary angioedema (HAE) is a disease characterized by recurrent episodes (also called attacks) of severe swelling of the skin and mucous membranes.[1] The age at which attacks begin varies, but most people have their first one in childhood or adolescence.[2] The frequency of attacks usually increases after puberty. Attacks most often affect 3 parts of the body:[2][3]
- Skin the most common sites are the face (such as the lips and eyes), hands, arms, legs, genitals, and buttocks. Skin swelling can cause pain, dysfunction, and disfigurement, although it is generally not dangerous and is temporary.
- Gastrointestinal tract the stomach, intestines, bladder, and/or urethra may be involved. This may cause symptoms such as nausea, vomiting, diarrhea, and abdominal pain.
- Upper airway (such as the larynx and tongue) this can cause upper airway obstruction and may be life-threatening. The majority of attacks affecting the airway resolve before complete airway obstruction.
Attacks may involve one area of the body at a time, or they may involve a combination of areas. They always go away on their own but last from 2 to 4 days. While people with HAE have reported various triggers of attacks, emotional stress, physical stress, and dental procedures are the most commonly reported triggers.[2]
There are several types of HAE.[1] Types I and II are caused by
Management of HAE involves treatment of sudden (acute) attacks and preventing attacks (
The long-term outlook varies depending on the frequency and location of attacks, and the severity of attacks in each person. Attacks generally continue throughout life, but the frequency of attacks can be significantly reduced with therapy.[2]
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Angioedema | 0100665 | |
5%-29% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
Facial edema |
Facial puffiness
Facial swelling
[ more ] |
0000282 |
Intestinal edema | 0005225 | |
Intestinal obstruction |
Bowel obstruction
Intestinal blockage
[ more ] |
0005214 |
Laryngeal edema | 0012027 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the larynx | 0001600 | |
Autoimmunity |
Autoimmune disease
Autoimmune disorder
[ more ] |
0002960 |
0000006 | ||
0000007 | ||
Axonal degeneration | 0040078 | |
Diarrhea |
Watery stool
|
0002014 |
Erythema | 0010783 | |
Peripheral axonal neuropathy | 0003477 | |
Pharyngeal edema |
Throat swelling
|
0011855 |
Vomiting |
Throwing up
|
0002013 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- C1 esterase inhibitor (human)(Brand name: Cinryze) Manufactured by ViroPharma Biologics, Inc.
FDA-approved indication: Approved June 2018 for routineprophylaxis against angioedema attacks in adults, adolescents and pediatric patients (6 years old and above) with Hereditary Angioedema (HAE).
National Library of Medicine Drug Information Portal - Icatibant(Brand name: Firazyr) Manufactured by Shire Orphan Therapies
FDA-approved indication: Treatment of acute attacks of hereditary angioedema in adults 18 years of age and older
National Library of Medicine Drug Information Portal
Medline Plus Health Information - C1-esterase-inhibitor, human, pasteurized(Brand name: Haegarda) Manufactured by CSL Behring LLC
FDA-approved indication: For routine prophylaxis to prevent Hereditary Angioedema (HAE) attacks in adolescent and adult patients.
National Library of Medicine Drug Information Portal - Ecallantide(Brand name: Kalbitor) Manufactured by Dyax Corp
FDA-approved indication: Treatment of acute attacks of hereditary angioedema (HAE) in patients 12 years of age and older
National Library of Medicine Drug Information Portal - C1-esterase inhibitor (recombinant)(Brand name: Ruconest) Manufactured by Pharming N.V.
FDA-approved indication: Treatment of acute attacks of hereditary angioedema (HAE) in adult and adolescent patients.
National Library of Medicine Drug Information Portal - Lanadelumab(Brand name: Takhzyro) Manufactured by Dyax Corporation
FDA-approved indication: August 2018, lanadelumab(Takhzyro) was approved as a prophylaxis to prevent attacks of hereditary angioedema (HAE) in patients 12 years and older.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnosis should include acquired angioedema (see this term), intestinal occlusion syndrome and histamine-induced angioedema (of allergenic or nonallergenic origin) generally associated with urticaria. Screening of family members, including asymptomatic individuals, is recommended.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
HAEi – International Patient Organization for C1 Inhibitor Deficiencies (HAEi)
Kirstinelundsvej 7
DK-8660 Skanderborg
Denmark
E-mail: [email protected]
Website: https://haei.org/hae/what-is-hae/ -
US Hereditary Angioedema Association, Inc.
Seven Waterfront Plaza
500 Ala Moana Blvd., Suite 400
Honolulu, HI 96813
Telephone: 866-798-5598
E-mail: [email protected]
Website: https://www.haea.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Hereditary angioedema. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary angioedema. Click on the link to view a sample search on this topic.
References
- Cicardi M, Zuraw B. Hereditary angioedema: Pathogenesis and diagnosis. UpToDate. Waltham, MA: UpToDate; January 15, 2018; https://www.uptodate.com/contents/hereditary-angioedema-pathogenesis-and-diagnosis.
- Cicardi M, Zuraw B. Hereditary angioedema: Epidemiology, clinical manifestations, exacerbating factors, and prognosis. UpToDate. Waltham, MA: UpToDate; November 20, 2017; https://www.uptodate.com/contents/hereditary-angioedema-epidemiology-clinical-manifestations-exacerbating-factors-and-prognosis.
- Frank MM. Hereditary Angioedema. Medscape Reference. March 16, 2018; https://emedicine.medscape.com/article/135604-overview.
- Wu E, Frank MM. Hereditary angioedema with normal C1 inhibitor. UpToDate. Waltham, MA: UpToDate; August 18, 2017; https://www.uptodate.com/contents/hereditary-angioedema-with-normal-c1-inhibitor.
- Hereditary angioedema. Genetics Home Reference (GHR). 2009; https://ghr.nlm.nih.gov/condition/hereditary-angioedema. Accessed 1/24/2011.
- Cicardi M, Zuraw B. Hereditary angioedema: General care and long-term prophylaxis. UpToDate. Waltham, MA: UpToDate; October 25, 2017; https://www.uptodate.com/contents/hereditary-angioedema-general-care-and-long-term-prophylaxis.