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Hereditary angioedema with normal C1Inh

MedGen UID:
961151
•Concept ID:
CN277969
•
Disease or Syndrome
Synonyms: ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION; HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION; Hereditary angioneurotic edema with normal C1 esterase inhibitor activity
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0033947
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

Isolated angioedema: A review of classification and update on management.
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
Efficacy of Treatment of Non-hereditary Angioedema.
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
Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment.
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

Recent clinical studies

Etiology

Interventions for the long-term prevention of hereditary angioedema attacks.
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
Definition and classification of hereditary angioedema.
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
Hereditary Angio-Oedema for Dermatologists.
Bygum A
Dermatology 2019;235(4):263-275. Epub 2019 Jun 5 doi: 10.1159/000500196. PMID: 31167185
Efficacy of Treatment of Non-hereditary Angioedema.
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
Angioedema Phenotypes: Disease Expression and Classification.
Wu MA, Perego F, Zanichelli A, Cicardi M
Clin Rev Allergy Immunol 2016 Oct;51(2):162-9. doi: 10.1007/s12016-016-8541-z. PMID: 27113957

Diagnosis

Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.
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
Isolated angioedema: A review of classification and update on management.
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
Definition and classification of hereditary angioedema.
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
Hereditary and acquired angioedema.
Patel G, Pongracic JA
Allergy Asthma Proc 2019 Nov 1;40(6):441-445. doi: 10.2500/aap.2019.40.4267. PMID: 31690390
Hereditary Angio-Oedema for Dermatologists.
Bygum A
Dermatology 2019;235(4):263-275. Epub 2019 Jun 5 doi: 10.1159/000500196. PMID: 31167185

Therapy

Interventions for the long-term prevention of hereditary angioedema attacks.
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
Isolated angioedema: A review of classification and update on management.
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
Efficacy of Treatment of Non-hereditary Angioedema.
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
Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment.
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
Hereditary angioedema and lupus: A French retrospective study and literature review.
Gallais Sérézal I, Bouillet L, Dhôte R, Gayet S, Jeandel PY, Blanchard-Delaunay C, Martin L, Mekinian A, Fain O
Autoimmun Rev 2015 Jun;14(6):564-8. Epub 2015 Feb 4 doi: 10.1016/j.autrev.2015.02.001. PMID: 25660269

Prognosis

COVID-19 and hereditary angioedema: Incidence, outcomes, and mechanistic implications.
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
The role of the complement system in hereditary angioedema.
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
Diagnosis, Course, and Management of Angioedema in Patients With Acquired C1-Inhibitor Deficiency.
Zanichelli A, Azin GM, Wu MA, Suffritti C, Maggioni L, Caccia S, Perego F, Vacchini R, Cicardi M
J Allergy Clin Immunol Pract 2017 Sep-Oct;5(5):1307-1313. Epub 2017 Mar 9 doi: 10.1016/j.jaip.2016.12.032. PMID: 28284781
"Nuts and Bolts" of Laboratory Evaluation of Angioedema.
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
Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations.
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

HAE patient self-sampling for biomarker establishment.
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
Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene.
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
Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene.
Bork K, Wulff K, Witzke G, Machnig T, Hardt J
Orphanet J Rare Dis 2020 Feb 17;15(1):52. doi: 10.1186/s13023-020-1334-8. PMID: 32066472Free PMC Article
Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families.
Veronez CL, Moreno AS, Constantino-Silva RN, Maia LSM, Ferriani MPL, Castro FFM, Valle SR, Nakamura VK, Cagini N, Gonçalves RF, Mansour E, Serpa FS, Coelho Dias GA, Piccirillo MA, Toledo E, de Souza Bernardes M, Cichon S, Stieber C, Arruda LK, Pesquero JB, Grumach AS
J Allergy Clin Immunol Pract 2018 Jul-Aug;6(4):1209-1216.e8. Epub 2017 Nov 8 doi: 10.1016/j.jaip.2017.09.025. PMID: 29128335
The role of the complement system in hereditary angioedema.
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

Interventions for the long-term prevention of hereditary angioedema attacks.
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
Psychology and hereditary angioedema: A systematic review.
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
Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence.
Bork K, Machnig T, Wulff K, Witzke G, Prusty S, Hardt J
Orphanet J Rare Dis 2020 Oct 15;15(1):289. doi: 10.1186/s13023-020-01570-x. PMID: 33059692Free PMC Article
Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies.
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
Efficacy of Treatment of Non-hereditary Angioedema.
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

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