U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hereditary angioedema with normal C1Inh

MedGen UID:
743231
Concept ID:
C1960459
Disease or Syndrome
Synonym: Hereditary angioneurotic edema with normal C1 esterase inhibitor activity
SNOMED CT: Hereditary angioedema - type 3 (427167008); Hereditary angioedema with normal C1 esterase inhibitor activity (427167008); Hereditary angioneurotic edema with normal C1 esterase inhibitor activity (427167008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0100567
Orphanet: ORPHA528647

Definition

Hereditary angioedema-3 (HAE3) is a rare disorder characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women and is often precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). Both concentration and function of C1 inhibitor (C1NH; 606860) are normal (summary by Dewald and Bork, 2006). For a discussion of genetic heterogeneity of HAE, see 106100. [from OMIM]

Professional guidelines

PubMed

Kesh S, Bernstein JA
Ann Allergy Asthma Immunol 2022 Dec;129(6):692-702. Epub 2022 Aug 19 doi: 10.1016/j.anai.2022.08.003. PMID: 35988876
van den Elzen M, Go MFCL, Knulst AC, Blankestijn MA, van Os-Medendorp H, Otten HG
Clin Rev Allergy Immunol 2018 Jun;54(3):412-431. doi: 10.1007/s12016-016-8585-0. PMID: 27672078Free PMC Article
Canonica GW, Rossi O
Panminerva Med 2012 Sep;54(3):241-53. PMID: 22801442

Recent clinical studies

Etiology

Christiansen SC, Wilmot J, Castaldo AJ, Zuraw BL
Ann Allergy Asthma Immunol 2023 Dec;131(6):766-774.e8. Epub 2023 Aug 23 doi: 10.1016/j.anai.2023.08.012. PMID: 37619776
Beard N, Frese M, Smertina E, Mere P, Katelaris C, Mills K
Cochrane Database Syst Rev 2022 Nov 3;11(11):CD013403. doi: 10.1002/14651858.CD013403.pub2. PMID: 36326435Free PMC Article
Proper SP, Lavery WJ, Bernstein JA
Allergy Asthma Proc 2020 Nov 1;41(Suppl 1):S03-S07. doi: 10.2500/aap.2020.41.200040. PMID: 33109317
Bygum A
Dermatology 2019;235(4):263-275. Epub 2019 Jun 5 doi: 10.1159/000500196. PMID: 31167185
van den Elzen M, Go MFCL, Knulst AC, Blankestijn MA, van Os-Medendorp H, Otten HG
Clin Rev Allergy Immunol 2018 Jun;54(3):412-431. doi: 10.1007/s12016-016-8585-0. PMID: 27672078Free PMC Article

Diagnosis

Sinnathamby ES, Issa PP, Roberts L, Norwood H, Malone K, Vemulapalli H, Ahmadzadeh S, Cornett EM, Shekoohi S, Kaye AD
Adv Ther 2023 Mar;40(3):814-827. Epub 2023 Jan 7 doi: 10.1007/s12325-022-02401-0. PMID: 36609679Free PMC Article
Kesh S, Bernstein JA
Ann Allergy Asthma Immunol 2022 Dec;129(6):692-702. Epub 2022 Aug 19 doi: 10.1016/j.anai.2022.08.003. PMID: 35988876
Proper SP, Lavery WJ, Bernstein JA
Allergy Asthma Proc 2020 Nov 1;41(Suppl 1):S03-S07. doi: 10.2500/aap.2020.41.200040. PMID: 33109317
Patel G, Pongracic JA
Allergy Asthma Proc 2019 Nov 1;40(6):441-445. doi: 10.2500/aap.2019.40.4267. PMID: 31690390
Bygum A
Dermatology 2019;235(4):263-275. Epub 2019 Jun 5 doi: 10.1159/000500196. PMID: 31167185

Therapy

Radojicic C, Anderson J
Allergy Asthma Proc 2024 May 1;45(3):147-157. doi: 10.2500/aap.2024.45.240010. PMID: 38755781
Beard N, Frese M, Smertina E, Mere P, Katelaris C, Mills K
Cochrane Database Syst Rev 2022 Nov 3;11(11):CD013403. doi: 10.1002/14651858.CD013403.pub2. PMID: 36326435Free PMC Article
Kesh S, Bernstein JA
Ann Allergy Asthma Immunol 2022 Dec;129(6):692-702. Epub 2022 Aug 19 doi: 10.1016/j.anai.2022.08.003. PMID: 35988876
van den Elzen M, Go MFCL, Knulst AC, Blankestijn MA, van Os-Medendorp H, Otten HG
Clin Rev Allergy Immunol 2018 Jun;54(3):412-431. doi: 10.1007/s12016-016-8585-0. PMID: 27672078Free PMC Article
Magerl M, Germenis AE, Maas C, Maurer M
Immunol Allergy Clin North Am 2017 Aug;37(3):571-584. doi: 10.1016/j.iac.2017.04.004. PMID: 28687110

Prognosis

Eyice Karabacak D, Can A, Demir S, Yegit OO, Colakoglu B, Buyukozturk S, Gelincik AA
Int Arch Allergy Immunol 2023;184(12):1216-1224. Epub 2023 Sep 6 doi: 10.1159/000531074. PMID: 37673053
Veronez CL, Christiansen SC, Smith TD, Riedl MA, Zuraw BL
Allergy Asthma Proc 2021 Nov 1;42(6):506-514. doi: 10.2500/aap.2021.42.210083. PMID: 34871158Free PMC Article
Csuka D, Veszeli N, Varga L, Prohászka Z, Farkas H
Mol Immunol 2017 Sep;89:59-68. Epub 2017 Jun 7 doi: 10.1016/j.molimm.2017.05.020. PMID: 28595743
Farkas H, Veszeli N, Kajdácsi E, Cervenak L, Varga L
Clin Rev Allergy Immunol 2016 Oct;51(2):140-51. doi: 10.1007/s12016-016-8539-6. PMID: 27142368
Bork K, Wulff K, Witzke G, Hardt J
Allergy 2015 Aug;70(8):1004-12. Epub 2015 May 22 doi: 10.1111/all.12648. PMID: 25952149

Clinical prediction guides

Miyata T, Horiuchi T
Allergol Int 2023 Jul;72(3):375-384. Epub 2023 May 9 doi: 10.1016/j.alit.2023.04.004. PMID: 37169642
Förster TM, Magerl M, Maurer M, Zülbahar S, Zielke S, Inhaber N, Crocetta D, Rolfs A, Skrahina V
Orphanet J Rare Dis 2021 Sep 28;16(1):399. doi: 10.1186/s13023-021-02021-x. PMID: 34583739Free PMC Article
Perumalla S, Mathew L, Mathew J, Naina P, Joseph AJ, Prakash JAJ, Peter D
Indian J Med Microbiol 2021 Oct-Dec;39(4):509-512. Epub 2021 Apr 29 doi: 10.1016/j.ijmmb.2021.03.021. PMID: 33934932
Sharma J, Jindal AK, Banday AZ, Kaur A, Rawat A, Singh S, Longhurst H
Clin Rev Allergy Immunol 2021 Jun;60(3):305-315. Epub 2021 Jan 14 doi: 10.1007/s12016-021-08835-8. PMID: 33442779
Csuka D, Veszeli N, Varga L, Prohászka Z, Farkas H
Mol Immunol 2017 Sep;89:59-68. Epub 2017 Jun 7 doi: 10.1016/j.molimm.2017.05.020. PMID: 28595743

Recent systematic reviews

Guan X, Sheng Y, Liu S, He M, Chen T, Zhi Y
Orphanet J Rare Dis 2024 Jul 8;19(1):256. doi: 10.1186/s13023-024-03265-z. PMID: 38978028Free PMC Article
Beard N, Frese M, Smertina E, Mere P, Katelaris C, Mills K
Cochrane Database Syst Rev 2022 Nov 3;11(11):CD013403. doi: 10.1002/14651858.CD013403.pub2. PMID: 36326435Free PMC Article
Savarese L, Mormile I, Bova M, Petraroli A, Maiello A, Spadaro G, Freda MF
Allergy Asthma Proc 2021 Jan 1;42(1):e1-e7. doi: 10.2500/aap.2021.42.200073. PMID: 33404395Free PMC Article
Aygören-Pürsün E, Magerl M, Maetzel A, Maurer M
Orphanet J Rare Dis 2018 May 4;13(1):73. doi: 10.1186/s13023-018-0815-5. PMID: 29728119Free PMC Article
van den Elzen M, Go MFCL, Knulst AC, Blankestijn MA, van Os-Medendorp H, Otten HG
Clin Rev Allergy Immunol 2018 Jun;54(3):412-431. doi: 10.1007/s12016-016-8585-0. PMID: 27672078Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...