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Hereditary angioedema with C1Inh deficiency

MedGen UID:
944093
Concept ID:
CN261059
Finding
Synonyms: angioedema, hereditary, 1 and 2; angioedema, hereditary, type 1; angioedema, hereditary, type 1/2; angioedema, hereditary, type 2; angioedema, hereditary, type I; angioneurotic edema, hereditary; C1 esterase inhibitor, deficiency of; HAE with C1 inhibitor deficiency; HAE with C1Inh deficiency; HAE1; hereditary angioedema with C1Inh deficiency; Hereditary angioneurotic edema with C1 inhibitor deficiency; Hereditary angioneurotic edema with C1Inh deficiency
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0033946
Orphanet: ORPHA528623

Definition

A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases. [from ORDO]

Term Hierarchy

Professional guidelines

PubMed

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
Perego F, Wu MA, Valerieva A, Caccia S, Suffritti C, Zanichelli A, Bergamaschini L, Cicardi M
Expert Opin Biol Ther 2019 Jun;19(6):517-526. Epub 2019 Mar 26 doi: 10.1080/14712598.2019.1595581. PMID: 30912460
Cicardi M, Suffritti C, Perego F, Caccia S
J Investig Allergol Clin Immunol 2016;26(4):212-21; quiz two pages after page 221. doi: 10.18176/jiaci.0087. PMID: 27470642

Recent clinical studies

Etiology

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
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
López-Lera A, Garrido S, Nozal P, Skatum L, Bygum A, Caballero T, López Trascasa M
Clin Exp Immunol 2019 Dec;198(3):341-350. Epub 2019 Sep 17 doi: 10.1111/cei.13361. PMID: 31397881Free PMC Article
Bygum A
Dermatology 2019;235(4):263-275. Epub 2019 Jun 5 doi: 10.1159/000500196. PMID: 31167185
Zanichelli A, Wu MA, Andreoli A, Mansi M, Cicardi M
Expert Opin Drug Saf 2015;14(11):1725-36. Epub 2015 Oct 1 doi: 10.1517/14740338.2015.1094053. PMID: 26429506

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
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
Ponard D, Gaboriaud C, Charignon D, Ghannam A, Wagenaar-Bos IGA, Roem D, López-Lera A, López-Trascasa M, Tosi M, Drouet C
Hum Mutat 2020 Jan;41(1):38-57. Epub 2019 Oct 22 doi: 10.1002/humu.23917. PMID: 31517426
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

Tanaka KA, Mondal S, Morita Y, Williams B, Strauss ER, Cicardi M
Anesth Analg 2020 Jul;131(1):155-169. doi: 10.1213/ANE.0000000000004710. PMID: 32102012
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
Perego F, Wu MA, Valerieva A, Caccia S, Suffritti C, Zanichelli A, Bergamaschini L, Cicardi M
Expert Opin Biol Ther 2019 Jun;19(6):517-526. Epub 2019 Mar 26 doi: 10.1080/14712598.2019.1595581. PMID: 30912460
Cicardi M, Suffritti C, Perego F, Caccia S
J Investig Allergol Clin Immunol 2016;26(4):212-21; quiz two pages after page 221. doi: 10.18176/jiaci.0087. PMID: 27470642
Obtułowicz K
Pol Arch Med Wewn 2016;126(1-2):76-85. doi: 10.20452/pamw.3273. PMID: 26842379

Prognosis

Riedl MA
Immunol Allergy Clin North Am 2023 Feb;43(1):145-157. Epub 2022 Oct 28 doi: 10.1016/j.iac.2022.05.011. PMID: 36411000
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
Araújo-Simões J, Boanova AGP, Constantino-Silva RN, Fragnan NTML, Pinto JA, Minafra FG, Gonçalves RF, Valle SRD, Alonso MLO, Dortas SD, Goudouris ES, Rêgo-Silva AM, Marques MM, Serpa FS, Chong-Neto HJ, Nelson RF, Mansour E, Moreira IF, Moreno AS, Arruda LK, Roxo Junior P, Ferriani MPL, Silva J, Ferreira JFS, Giavina-Bianchi P, Takejima PM, Ensina LF, Campos RA, Toledo E, Pesquero JB, Palma SMU, Veronez CL, Grumach AS
Int Arch Allergy Immunol 2021;182(7):585-591. Epub 2021 Jan 28 doi: 10.1159/000512944. PMID: 33508850
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
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

Clinical prediction guides

Guo Y, Zhang H, Lai H, Wang H, Chong-Neto HJ, Valle SOR, Zhu R
Orphanet J Rare Dis 2022 Nov 2;17(1):399. doi: 10.1186/s13023-022-02536-x. PMID: 36324138Free PMC Article
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
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
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
Hofman ZL, Relan A, Zeerleder S, Drouet C, Zuraw B, Hack CE
J Allergy Clin Immunol 2016 Aug;138(2):359-66. Epub 2016 May 28 doi: 10.1016/j.jaci.2016.02.041. PMID: 27246526

Recent systematic reviews

Bork K, Steffensen I, Machnig T
Allergy Asthma Proc 2013 Jul-Aug;34(4):312-327. Epub 2013 May 22 doi: 10.2500/aap.2013.34.3677. PMID: 23710659

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