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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

Epidemiology, economic, and humanistic burden of hereditary angioedema: a systematic review.
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
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

Diagnosis

Epidemiology, economic, and humanistic burden of hereditary angioedema: a systematic review.
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
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

Therapy

Hereditary angioedema with normal C1 esterase inhibitor: Current paradigms and clinical dilemmas.
Radojicic C, Anderson J
Allergy Asthma Proc 2024 May 1;45(3):147-157. doi: 10.2500/aap.2024.45.240010. PMID: 38755781
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
Polymorphism of plasminogen in Tuscany (Italy).
Spinetti I, Domenici R, Giari A, Bargagna M
Z Rechtsmed 1990;103(3):163-7. doi: 10.1007/BF00207338. PMID: 2309529

Prognosis

How Does Pregnancy and Type of Delivery Affect the Clinical Course of Hereditary Angioedema?
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
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

Clinical prediction guides

Epidemiology, economic, and humanistic burden of hereditary angioedema: a systematic review.
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
Systemic inflammation biomarkers during angioedema attacks in hereditary angioedema.
Gil-Serrano J, Labrador-Horrillo M, Galvan-Blasco P, Sala-Cunill A, Bigas P, Pereira-González J, Luengo O, Cardona V, Guilarte M
Front Immunol 2024;15:1400526. Epub 2024 Jun 17 doi: 10.3389/fimmu.2024.1400526. PMID: 38953032Free PMC Article
Hereditary angioedema with normal C1-inhibitor: Clinical and genetic characterization of 15 Portuguese unrelated families.
Dias de Castro E, Pinhal AL, Bragança M, Parente Freixo J, Martinho A
Ann Allergy Asthma Immunol 2024 Jun;132(6):730-736. Epub 2024 Feb 9 doi: 10.1016/j.anai.2024.01.027. PMID: 38342132
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
A de novo deletion in the C1 inhibitor gene in a case of sporadic hereditary angioneurotic edema.
Ariga T, Hoshioka A, Kohno Y, Sakamaki T, Matsumoto S
Clin Immunol Immunopathol 1993 Oct;69(1):103-5. doi: 10.1006/clin.1993.1156. PMID: 8403537

Recent systematic reviews

Epidemiology, economic, and humanistic burden of hereditary angioedema: a systematic review.
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
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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