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Hereditary C1 esterase inhibitor deficiency - dysfunctional factor(HAE2)

MedGen UID:
585077
Concept ID:
C0398776
Disease or Syndrome
Synonyms: HAE2; Hereditary angioedema, type II
SNOMED CT: Hereditary angioedema - type 2 (234620006); Hereditary angioneurotic edema - type 2 (234620006); C1 esterase inhibitor deficiency - type 2 (234620006); Hereditary C1 esterase inactivity (234620006); Hereditary C1 esterase inhibitor deficiency - dysfunctional factor (234620006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0015054
Orphanet: ORPHA100051

Definition



The different types of hereditary angioedema have similar signs and symptoms. 

Hereditary angioedema due to C1-INH deficiency is further divided into two types: type I occurs when C1-INH levels are low, and type II occurs when the C1-INH protein is not functioning correctly. 

Hereditary angioedema is broadly divided into two types, which are distinguished by levels of a protein called C1 inhibitor (C1-INH) in the blood. These types are known as hereditary angioedema due to C1-INH deficiency and hereditary angioedema with normal C1-INH. 

Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty.  On average, untreated individuals have swelling episodes every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family.

Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The parts of the body that are most often affected by swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Zeerleder S, Levi M
Ann Med 2016;48(4):256-67. Epub 2016 Mar 26 doi: 10.3109/07853890.2016.1162909. PMID: 27018196
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Canonica GW, Rossi O
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Curated

Orphanet, Non histamine-induced angioedema, 2009

Recent clinical studies

Etiology

Gramstad OR, Kandanur SPS, Etscheid M, Nielsen EW, Kanse SM
Mol Immunol 2022 Feb;142:95-104. Epub 2021 Dec 29 doi: 10.1016/j.molimm.2021.11.019. PMID: 34973499
Billebeau A, Fain O, Launay D, Boccon-Gibod I, Bouillet L, Gobert D, Plu-Bureau G, Gompel A; French National Reference Center for Hereditary Angioedema (CREAK)
J Clin Immunol 2021 Jan;41(1):163-170. Epub 2020 Oct 31 doi: 10.1007/s10875-020-00902-7. PMID: 33130967
Nebenführer Z, Szabó E, Kajdácsi E, Kőhalmi KV, Karádi I, Zsáry A, Farkas H, Cervenak L
Ann Allergy Asthma Immunol 2019 Jan;122(1):86-92. Epub 2018 Oct 10 doi: 10.1016/j.anai.2018.10.004. PMID: 30312677
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Expert Opin Drug Saf 2015;14(11):1725-36. Epub 2015 Oct 1 doi: 10.1517/14740338.2015.1094053. PMID: 26429506

Diagnosis

Billebeau A, Fain O, Launay D, Boccon-Gibod I, Bouillet L, Gobert D, Plu-Bureau G, Gompel A; French National Reference Center for Hereditary Angioedema (CREAK)
J Clin Immunol 2021 Jan;41(1):163-170. Epub 2020 Oct 31 doi: 10.1007/s10875-020-00902-7. PMID: 33130967
Patel G, Pongracic JA
Allergy Asthma Proc 2019 Nov 1;40(6):441-445. doi: 10.2500/aap.2019.40.4267. PMID: 31690390
Bova M, De Feo G, Parente R, De Pasquale T, Gravante C, Pucci S, Nettis E, Triggiani M
Int Arch Allergy Immunol 2018;175(3):126-135. Epub 2018 Jan 26 doi: 10.1159/000486312. PMID: 29393169
Zeerleder S, Levi M
Ann Med 2016;48(4):256-67. Epub 2016 Mar 26 doi: 10.3109/07853890.2016.1162909. PMID: 27018196
Canonica GW, Rossi O
Panminerva Med 2012 Sep;54(3):241-53. PMID: 22801442

Therapy

Nabavi M, Bahrami S, Arshi S, Rezaeifar A, Bemanian MH, Fallahpour M, Shokri S, Tehrani H
Iran J Allergy Asthma Immunol 2021 Feb 11;20(1):120-124. doi: 10.18502/ijaai.v20i1.5419. PMID: 33639628
Longhurst HJ, Bork K
Br J Hosp Med (Lond) 2019 Jul 2;80(7):391-398. doi: 10.12968/hmed.2019.80.7.391. PMID: 31283393
Farkas H, Debreczeni ML, Kőhalmi KV
Expert Opin Investig Drugs 2018 Jan;27(1):87-103. Epub 2017 Dec 15 doi: 10.1080/13543784.2018.1415325. PMID: 29226721
Gower RG
Allergy Asthma Proc 2013 Jan-Feb;34(1):7-12. doi: 10.2500/aap.2013.34.3624. PMID: 23406928
Kaplan AP
J Allergy Clin Immunol 2010 Nov;126(5):918-25. doi: 10.1016/j.jaci.2010.08.012. PMID: 20889195

Prognosis

Obtulowicz P, Piotrowicz-Wojcik K, Dyga W, Stobiecki M, Popiela T, Obtulowicz K
J Physiol Pharmacol 2022 Apr;73(2) Epub 2022 Sep 29 doi: 10.26402/jpp.2022.2.08. PMID: 36193964
Lee EY, Hsieh J, Borici-Mazi R, Caballero T, Kanani A, Lacuesta G, McCusker C, Waserman S, Betschel S
Ann Allergy Asthma Immunol 2021 Apr;126(4):394-400.e3. Epub 2021 Jan 13 doi: 10.1016/j.anai.2021.01.002. PMID: 33450396
Billebeau A, Fain O, Launay D, Boccon-Gibod I, Bouillet L, Gobert D, Plu-Bureau G, Gompel A; French National Reference Center for Hereditary Angioedema (CREAK)
J Clin Immunol 2021 Jan;41(1):163-170. Epub 2020 Oct 31 doi: 10.1007/s10875-020-00902-7. PMID: 33130967
Bova M, De Feo G, Parente R, De Pasquale T, Gravante C, Pucci S, Nettis E, Triggiani M
Int Arch Allergy Immunol 2018;175(3):126-135. Epub 2018 Jan 26 doi: 10.1159/000486312. PMID: 29393169
Ebo DG, Verweij MM, De Knop KJ, Hagendorens MM, Bridts CH, De Clerck LS, Stevens WJ
Paediatr Drugs 2010 Aug 1;12(4):257-68. doi: 10.2165/11532590-000000000-00000. PMID: 20593909

Clinical prediction guides

Billebeau A, Fain O, Launay D, Boccon-Gibod I, Bouillet L, Gobert D, Plu-Bureau G, Gompel A; French National Reference Center for Hereditary Angioedema (CREAK)
J Clin Immunol 2021 Jan;41(1):163-170. Epub 2020 Oct 31 doi: 10.1007/s10875-020-00902-7. PMID: 33130967
Madsen DE, Sidelmann JJ, Biltoft D, Gram J, Hansen S
Biochim Biophys Acta 2015 Jun;1850(6):1336-42. Epub 2015 Mar 20 doi: 10.1016/j.bbagen.2015.03.005. PMID: 25800206
Caballero T
J Clin Immunol 2012 Dec;32(6):1204-12. Epub 2012 Jul 15 doi: 10.1007/s10875-012-9734-8. PMID: 22797816
Bossi F, Fischetti F, Regoli D, Durigutto P, Frossi B, Gobeil F Jr, Ghebrehiwet B, Peerschke EI, Cicardi M, Tedesco F
J Allergy Clin Immunol 2009 Dec;124(6):1303-10.e4. doi: 10.1016/j.jaci.2009.08.007. PMID: 19796797Free PMC Article
Asghar SS, Pasch MC
Front Biosci 2000 Sep 1;5:E63-81. doi: 10.2741/asghar. PMID: 10966868

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