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Hereditary factor XII deficiency disease

MedGen UID:
543982
•Concept ID:
C0272334
•
Disease or Syndrome
Synonyms: Hereditary Factor XII Deficiency; Hereditary Factor XII Deficiency Disease; Hereditary Hageman Factor Deficiency; Hereditary Hageman factor deficiency disease
SNOMED CT: Hereditary factor XII deficiency disease (43217004); Hereditary Hageman factor deficiency disease (43217004)

Definition

A rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor XII. It may be asymptomatic or manifest with bleeding. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary factor XII deficiency disease

Professional guidelines

PubMed

Treatment of Hereditary Angioedema.
Caballero T
J Investig Allergol Clin Immunol 2021 Feb;31(1):1-16. doi: 10.18176/jiaci.0653. PMID: 33602658
Design and characterization of α1-antitrypsin variants for treatment of contact system-driven thromboinflammation.
de Maat S, Sanrattana W, Mailer RK, Parr NMJ, Hessing M, Koetsier RM, Meijers JCM, Pasterkamp G, Renné T, Maas C
Blood 2019 Nov 7;134(19):1658-1669. doi: 10.1182/blood.2019000481. PMID: 31366623Free PMC Article
Novelties in the Diagnosis and Treatment of Angioedema.
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

Unnecessary Abdominal Surgeries in Attacks of Hereditary Angioedema with Normal C1 Inhibitor.
Gutierrez M, Veronez CL, Rodrigues Valle SO, Gonçalves RF, Ferriani MPL, Moreno AS, Arruda LK, Aun MV, Giavina-Bianchi P, Alonso MLO, Pesquero JB, Grumach AS
Clin Rev Allergy Immunol 2021 Aug;61(1):60-65. Epub 2021 Mar 23 doi: 10.1007/s12016-021-08852-7. PMID: 33755867
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
Paired APTTs of low and high lupus anticoagulant sensitivity permit distinction from other abnormalities and achieve good lupus anticoagulant detection rates in conjunction with dRVVT.
Kumano O, Amiral J, Dunois C, Peyrafitte M, Moore GW
Int J Lab Hematol 2019 Feb;41(1):60-68. Epub 2018 Sep 24 doi: 10.1111/ijlh.12921. PMID: 30248243
Hereditary and Acquired Angioedema: Heterogeneity of Pathogenesis and Clinical Phenotypes.
Bova M, De Feo G, Parente R, De Pasquale T, Gravante C, Pucci S, Nettis E, Triggiani M
Int Arch Allergy Immunol 2018;175(3):126-135. Epub 2018 Jan 26 doi: 10.1159/000486312. PMID: 29393169
Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype.
Charignon D, Ghannam A, Defendi F, Ponard D, Monnier N, López Trascasa M, Launay D, Caballero T, Djenouhat K, Fain O, Cichon S, Martin L, Drouet C
Allergy 2014 Dec;69(12):1659-65. Epub 2014 Oct 10 doi: 10.1111/all.12515. PMID: 25134986

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
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
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
Diagnosis and treatment of hereditary angioedema.
Canonica GW, Rossi O
Panminerva Med 2012 Sep;54(3):241-53. PMID: 22801442

Therapy

Treatment of Hereditary Angioedema.
Caballero T
J Investig Allergol Clin Immunol 2021 Feb;31(1):1-16. doi: 10.18176/jiaci.0653. PMID: 33602658
Hereditary angioedema: an update on causes, manifestations and treatment.
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
Current and emerging biologics for the treatment of hereditary angioedema.
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
Bradykinin-mediated diseases.
Kaplan AP
Chem Immunol Allergy 2014;100:140-7. Epub 2014 May 22 doi: 10.1159/000358619. PMID: 24925394
Pathophysiology of hereditary angioedema.
Zuraw BL, Christiansen SC
Am J Rhinol Allergy 2011 Nov-Dec;25(6):373-8. doi: 10.2500/ajra.2011.25.3661. PMID: 22185738

Prognosis

Mast cell degranulation and bradykinin-induced angioedema - searching for the missing link.
Porebski G, Dziadowiec A, Rybka H, Kitel R, Kwitniewski M
Front Immunol 2024;15:1399459. Epub 2024 May 15 doi: 10.3389/fimmu.2024.1399459. PMID: 38812508Free PMC Article
Hereditary and Acquired Angioedema: Heterogeneity of Pathogenesis and Clinical Phenotypes.
Bova M, De Feo G, Parente R, De Pasquale T, Gravante C, Pucci S, Nettis E, Triggiani M
Int Arch Allergy Immunol 2018;175(3):126-135. Epub 2018 Jan 26 doi: 10.1159/000486312. PMID: 29393169
"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
The burden of illness in patients with hereditary angioedema.
Banerji A
Ann Allergy Asthma Immunol 2013 Nov;111(5):329-36. Epub 2013 Sep 18 doi: 10.1016/j.anai.2013.08.019. PMID: 24125136
Hereditary angioedema in childhood: an approach to management.
Ebo DG, Verweij MM, De Knop KJ, Hagendorens MM, Bridts CH, De Clerck LS, Stevens WJ
Paediatr Drugs 2010 Aug 1;12(4):257-68. doi: 10.2165/11532590-000000000-00000. PMID: 20593909

Clinical prediction guides

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
Mast cell degranulation and bradykinin-induced angioedema - searching for the missing link.
Porebski G, Dziadowiec A, Rybka H, Kitel R, Kwitniewski M
Front Immunol 2024;15:1399459. Epub 2024 May 15 doi: 10.3389/fimmu.2024.1399459. PMID: 38812508Free PMC Article
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
Long-term Prophylaxis with Androgens in the management of Hereditary Angioedema (HAE) in emerging countries.
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
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

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