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Hereditary angioedema with normal C1inh not related to F12 or PLG variant

MedGen UID:
1843147
•Concept ID:
C5681601
•
Disease or Syndrome
Synonyms: Hereditary angioedema with normal C1Inh not related to F12 or PLG variant; hereditary angioedema with normal C1inh not related to F12 or PLG variant
 
Monarch Initiative: MONDO:0035734
Orphanet: ORPHA599418

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary angioedema with normal C1inh not related to F12 or PLG variant

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

Plasmin-Mediated Fibrinolysis in Periodontitis Pathogenesis.
Silva LM, Divaris K, Bugge TH, Moutsopoulos NM
J Dent Res 2023 Aug;102(9):972-978. Epub 2023 Jul 28 doi: 10.1177/00220345231171837. PMID: 37506226Free PMC Article
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
The role of inflammation and genetics in periodontal disease.
Loos BG, Van Dyke TE
Periodontol 2000 2020 Jun;83(1):26-39. doi: 10.1111/prd.12297. PMID: 32385877Free PMC Article
Hereditary Angio-Oedema for Dermatologists.
Bygum A
Dermatology 2019;235(4):263-275. Epub 2019 Jun 5 doi: 10.1159/000500196. PMID: 31167185

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
The role of inflammation and genetics in periodontal disease.
Loos BG, Van Dyke TE
Periodontol 2000 2020 Jun;83(1):26-39. doi: 10.1111/prd.12297. PMID: 32385877Free 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
Recombinant replacement therapy for hereditary angioedema due to C1 inhibitor deficiency.
Moldovan D, Bernstein JA, Cicardi M
Immunotherapy 2015;7(7):739-52. Epub 2015 Aug 7 doi: 10.2217/imt.15.44. PMID: 26250409

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
"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
HAE update: special considerations in the female patient with hereditary angioedema.
Geng B, Riedl MA
Allergy Asthma Proc 2013 Jan-Feb;34(1):13-8. doi: 10.2500/aap.2013.34.3635. PMID: 23406930

Clinical prediction guides

Biochemistry, molecular genetics, and clinical aspects of hereditary angioedema with and without C1 inhibitor deficiency.
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
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
Clinical profile of hereditary angioedema from a tertiary care centre in India.
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
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
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
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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