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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
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
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

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: 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
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
Hereditary angioedema with normal C1 inhibitor.
Bork K
Immunol Allergy Clin North Am 2013 Nov;33(4):457-70. Epub 2013 Sep 5 doi: 10.1016/j.iac.2013.07.002. PMID: 24176211
Factor XI and XII as antithrombotic targets.
Müller F, Gailani D, Renné T
Curr Opin Hematol 2011 Sep;18(5):349-55. doi: 10.1097/MOH.0b013e3283497e61. PMID: 21730835Free PMC Article

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
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 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
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

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: Investigational therapies and future research.
Kaplan AP
Allergy Asthma Proc 2020 Nov 1;41(Suppl 1):S51-S54. doi: 10.2500/aap.2020.41.200056. PMID: 33109328
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
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
Bradykinin-mediated diseases.
Kaplan AP
Chem Immunol Allergy 2014;100:140-7. Epub 2014 May 22 doi: 10.1159/000358619. PMID: 24925394

Prognosis

Whole-exome sequencing reveals a novel frameshift mutation in a consanguineous family with a hereditary coagulation factor XII deficiency.
Ren S, Cai D, Xiao L, Shen H, Ren C
Clin Biochem 2023 Aug;118:110602. Epub 2023 Jun 28 doi: 10.1016/j.clinbiochem.2023.110602. PMID: 37391120
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

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
Contact activation-induced complex formation between complement factor H and coagulation factor XIIa.
Thangaraj SS, Christiansen SH, Graversen JH, Sidelmann JJ, Hansen SWK, Bygum A, Gram JB, Palarasah Y
J Thromb Haemost 2020 Apr;18(4):876-884. Epub 2020 Feb 20 doi: 10.1111/jth.14742. PMID: 31984663
The bradykinin-forming cascade and its role in hereditary angioedema.
Kaplan AP, Joseph K
Ann Allergy Asthma Immunol 2010 Mar;104(3):193-204. doi: 10.1016/j.anai.2010.01.007. PMID: 20377108

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