 | This article needs more reliable medical references for verification or relies too heavily on primary sources. (September 2024) |  |
| Hereditary angioedema (HAE) | |
|---|---|
| Other names | Hereditary angioneurotic edema (HANE),[1] familial angioneurotic edema[2] |
 | |
| Swollen right hand during a hereditary angioedema attack. | |
| Specialty | Hematology |
| Symptoms | Recurrent attacks of severe swelling[3] |
| Usual onset | Childhood[3] |
| Duration | Attacks last a few days[3] |
| Types | Type I, II, III[3] |
| Causes | Genetic disorder (autosomal dominant)[3] |
| Diagnostic method | Measuring C4 and C1-inhibitor levels.[2] |
| Differential diagnosis | Intestinal obstruction, other types of angioedema[2] |
| Prevention | C1 inhibitor[1] |
| Treatment | Supportive care, medications[1] |
| Medication | C1 inhibitor, ecallantide, icatibant[1] |
| Prognosis | 25% risk of death if airway involved (without treatment)[2] |
| Frequency | ~1 in 50,000[3] |
Hereditary angioedema (HAE) is a disorder that results in recurrent attacks of severe swelling.[3] The swelling most commonly affects the arms, legs, face, intestinal tract, and airway.[3] If the intestinal tract is affected, abdominal pain and vomiting may occur.[1] Swelling of the airway can result in its obstruction and trouble breathing.[1] Without preventive treatment, attacks typically occur every two weeks and last for a few days.[3]
There are three main types of HAE.[3] Types I and II are caused by a mutation in the SERPING1 gene, which encodes the C1 inhibitor protein, and type III now called HAE with Normal C1 esterase(HAE nl C1). Six known mutations are described in the literature under the type 3 HAE.[4] The result is increased levels of bradykinin, which promotes swelling.[3] The condition may be inherited in an autosomal dominant manner or occur as a new mutation.[3] Triggers for an attack may include minor trauma or stress, but attacks often occur without any obvious preceding event.[3] Diagnosis of types I and II is based on measurement of C4 and C1-inhibitor levels.[2]
Management of HAE involves efforts to prevent attacks and the treatment of attacks if they occur.[1] During an attack, supportive care such as intravenous fluids and airway support may be required.[1] C1 inhibitor medications can be used for both prevention and treatment, while ecallantide and icatibant can be used to treat acute attacks.[1]
HAE affects approximately 1 in 50,000 people.[3] The condition is typically first noticed in childhood.[3] Type I and II affects females and males equally,[5] while type III affects females more often than males.[2] When the airway is involved, without treatment, the risk of death is about 25%.[2] With treatment, outcomes are generally good.[2] The condition was first described in 1888 by Canadian physician William Osler.[6]
- ^ a b c d e f g h i "Hereditary angioedema". GARD. 2017. Archived from the original on 4 July 2017. Retrieved 10 July 2017.
- ^ a b c d e f g h "Orphanet: Hereditary angioedema". www.orpha.net. August 2011. Archived from the original on 9 October 2015. Retrieved 10 July 2017.
- ^ a b c d e f g h i j k l m n o Reference GH (5 July 2017). "hereditary angioedema". Genetics Home Reference. Archived from the original on 10 July 2017. Retrieved 10 July 2017.
- ^ Smith TD, Riedl MA (October 2024). "The future of therapeutic options for hereditary angioedema". Annals of Allergy, Asthma & Immunology. 133 (4): 380–390. doi:10.1016/j.anai.2024.04.029.
- ^ "Hereditary Angioedema - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2008. Archived from the original on 14 July 2017. Retrieved 10 July 2017.
- ^ Levin AV, Enzenauer RW (2017). The Eye in Pediatric Systemic Disease. Springer. p. 71. ISBN 9783319183893. Archived from the original on 10 September 2017.