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Congenital fibrinogen deficiency

MedGen UID:
412157
•Concept ID:
C2062367
•
Disease or Syndrome
Synonyms: congenital fibrinogen deficiency; fibrinogen deficiency, congenital
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018060
Orphanet: ORPHA335

Definition

Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Congenital fibrinogen deficiency

Professional guidelines

PubMed

Fibrinogen concentrate for treatment of bleeding and surgical prophylaxis in congenital fibrinogen deficiency patients.
Lissitchkov T, Madan B, Djambas Khayat C, Zozulya N, Ross C, Karimi M, Kavakli K, De Angulo GR, Almomen A, Subramanian K, D'Souza F, Viswabandya A, Hoorfar H, Schwartz BA, Solomon C, Knaub S, Peyvandi F
J Thromb Haemost 2020 Apr;18(4):815-824. Epub 2020 Jan 21 doi: 10.1111/jth.14727. PMID: 31885190Free PMC Article
Epidemiology and treatment of congenital fibrinogen deficiency.
Peyvandi F
Thromb Res 2012 Dec;130 Suppl 2:S7-11. doi: 10.1016/S0049-3848(13)70004-5. PMID: 23439004
Treatment of congenital fibrinogen deficiency: overview and recent findings.
Tziomalos K, Vakalopoulou S, Perifanis V, Garipidou V
Vasc Health Risk Manag 2009;5:843-8. Epub 2009 Oct 12 doi: 10.2147/vhrm.s5305. PMID: 19851522Free PMC Article

Recent clinical studies

Etiology

Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.
Mohsenian S, Palla R, Menegatti M, Cairo A, Lecchi A, Casini A, Neerman-Arbez M, Asselta R, Scardo S, Siboni SM, Blatny J, Zapletal O, Schved JF, Giansily-Blaizot M, Halimeh S, Daoud MA, Platokouki H, Pergantou H, Schutgens REG, Van Haaften-Spoor M, Brons P, Laros-van Gorkom B, Van Pinxten E, Borhany M, Fatima N, Mikovic D, Saracevic M, Özdemir GN, Ay Y, Makris M, Lockley C, Mumford A, Harvey A, Austin S, Shapiro A, Williamson A, McGuinn C, Goldberg I, De Moerloose P, Peyvandi F
Blood Adv 2024 Mar 26;8(6):1392-1404. doi: 10.1182/bloodadvances.2023012186. PMID: 38286442Free PMC Article
Congenital Fibrinogen Deficiency in India and Role of Human Fibrinogen Concentrate.
John MJ, Byreddy P, Modak K, Makkar M
Acta Haematol 2021;144(6):595-602. Epub 2021 Jun 4 doi: 10.1159/000516339. PMID: 34091452
Fibrinogen concentrate for treatment of bleeding and surgical prophylaxis in congenital fibrinogen deficiency patients.
Lissitchkov T, Madan B, Djambas Khayat C, Zozulya N, Ross C, Karimi M, Kavakli K, De Angulo GR, Almomen A, Subramanian K, D'Souza F, Viswabandya A, Hoorfar H, Schwartz BA, Solomon C, Knaub S, Peyvandi F
J Thromb Haemost 2020 Apr;18(4):815-824. Epub 2020 Jan 21 doi: 10.1111/jth.14727. PMID: 31885190Free PMC Article
Epidemiology and treatment of congenital fibrinogen deficiency.
Peyvandi F
Thromb Res 2012 Dec;130 Suppl 2:S7-11. doi: 10.1016/S0049-3848(13)70004-5. PMID: 23439004
Treatment of congenital fibrinogen deficiency: overview and recent findings.
Tziomalos K, Vakalopoulou S, Perifanis V, Garipidou V
Vasc Health Risk Manag 2009;5:843-8. Epub 2009 Oct 12 doi: 10.2147/vhrm.s5305. PMID: 19851522Free PMC Article

Diagnosis

Fibrinogen concentrate for treatment of bleeding and surgical prophylaxis in congenital fibrinogen deficiency patients.
Lissitchkov T, Madan B, Djambas Khayat C, Zozulya N, Ross C, Karimi M, Kavakli K, De Angulo GR, Almomen A, Subramanian K, D'Souza F, Viswabandya A, Hoorfar H, Schwartz BA, Solomon C, Knaub S, Peyvandi F
J Thromb Haemost 2020 Apr;18(4):815-824. Epub 2020 Jan 21 doi: 10.1111/jth.14727. PMID: 31885190Free PMC Article
Pharmacokinetics, clot strength and safety of a new fibrinogen concentrate: randomized comparison with active control in congenital fibrinogen deficiency.
Ross C, Rangarajan S, Karimi M, Toogeh G, Apte S, Lissitchkov T, Acharya S, Manco-Johnson MJ, Srivastava A, Brand B, Schwartz BA, Knaub S, Peyvandi F
J Thromb Haemost 2018 Feb;16(2):253-261. Epub 2018 Jan 22 doi: 10.1111/jth.13923. PMID: 29220876
Epidemiology and treatment of congenital fibrinogen deficiency.
Peyvandi F
Thromb Res 2012 Dec;130 Suppl 2:S7-11. doi: 10.1016/S0049-3848(13)70004-5. PMID: 23439004
Fibrinogen replacement therapy for congenital fibrinogen deficiency.
Bornikova L, Peyvandi F, Allen G, Bernstein J, Manco-Johnson MJ
J Thromb Haemost 2011 Sep;9(9):1687-704. doi: 10.1111/j.1538-7836.2011.04424.x. PMID: 21711446
Treatment of congenital fibrinogen deficiency: overview and recent findings.
Tziomalos K, Vakalopoulou S, Perifanis V, Garipidou V
Vasc Health Risk Manag 2009;5:843-8. Epub 2009 Oct 12 doi: 10.2147/vhrm.s5305. PMID: 19851522Free PMC Article

Therapy

Congenital Fibrinogen Deficiency in India and Role of Human Fibrinogen Concentrate.
John MJ, Byreddy P, Modak K, Makkar M
Acta Haematol 2021;144(6):595-602. Epub 2021 Jun 4 doi: 10.1159/000516339. PMID: 34091452
Epidemiology and treatment of congenital fibrinogen deficiency.
Peyvandi F
Thromb Res 2012 Dec;130 Suppl 2:S7-11. doi: 10.1016/S0049-3848(13)70004-5. PMID: 23439004
Fibrinogen replacement therapy for congenital fibrinogen deficiency.
Bornikova L, Peyvandi F, Allen G, Bernstein J, Manco-Johnson MJ
J Thromb Haemost 2011 Sep;9(9):1687-704. doi: 10.1111/j.1538-7836.2011.04424.x. PMID: 21711446
Treatment of congenital fibrinogen deficiency: overview and recent findings.
Tziomalos K, Vakalopoulou S, Perifanis V, Garipidou V
Vasc Health Risk Manag 2009;5:843-8. Epub 2009 Oct 12 doi: 10.2147/vhrm.s5305. PMID: 19851522Free PMC Article
Fibrinogen concentrate--a potential universal hemostatic agent.
Fenger-Eriksen C, Ingerslev J, Sørensen B
Expert Opin Biol Ther 2009 Oct;9(10):1325-33. doi: 10.1517/14712590903193051. PMID: 19645632

Clinical prediction guides

Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.
Mohsenian S, Palla R, Menegatti M, Cairo A, Lecchi A, Casini A, Neerman-Arbez M, Asselta R, Scardo S, Siboni SM, Blatny J, Zapletal O, Schved JF, Giansily-Blaizot M, Halimeh S, Daoud MA, Platokouki H, Pergantou H, Schutgens REG, Van Haaften-Spoor M, Brons P, Laros-van Gorkom B, Van Pinxten E, Borhany M, Fatima N, Mikovic D, Saracevic M, Özdemir GN, Ay Y, Makris M, Lockley C, Mumford A, Harvey A, Austin S, Shapiro A, Williamson A, McGuinn C, Goldberg I, De Moerloose P, Peyvandi F
Blood Adv 2024 Mar 26;8(6):1392-1404. doi: 10.1182/bloodadvances.2023012186. PMID: 38286442Free PMC Article
Efficacy and safety of fibrinogen concentrate for on-demand treatment of bleeding and surgical prophylaxis in paediatric patients with congenital fibrinogen deficiency.
Djambas Khayat C, Lohade S, D'Souza F, Shamanur LG, Zekavat OR, Kruzhkova I, Schwartz B, Solomon C, Knaub S, Peyvandi F
Haemophilia 2021 Mar;27(2):283-292. Epub 2020 Dec 16 doi: 10.1111/hae.14230. PMID: 33326665Free PMC Article
Clinical pharmacology, efficacy and safety study of a triple-secured fibrinogen concentrate in adults and adolescent patients with congenital fibrinogen deficiency.
Djambas Khayat C, El Khorassani M, Lambert T, Gay V, Barthez-Toullec M, Lamazure J, Bellon A, Henriet C, Bridey F, Négrier C
J Thromb Haemost 2019 Apr;17(4):635-644. Epub 2019 Feb 20 doi: 10.1111/jth.14392. PMID: 30661302
Fibrinogen replacement therapy for congenital fibrinogen deficiency.
Bornikova L, Peyvandi F, Allen G, Bernstein J, Manco-Johnson MJ
J Thromb Haemost 2011 Sep;9(9):1687-704. doi: 10.1111/j.1538-7836.2011.04424.x. PMID: 21711446
Fibrinogen concentrate--a potential universal hemostatic agent.
Fenger-Eriksen C, Ingerslev J, Sørensen B
Expert Opin Biol Ther 2009 Oct;9(10):1325-33. doi: 10.1517/14712590903193051. PMID: 19645632

Recent systematic reviews

Fibrinogen replacement therapy for congenital fibrinogen deficiency.
Bornikova L, Peyvandi F, Allen G, Bernstein J, Manco-Johnson MJ
J Thromb Haemost 2011 Sep;9(9):1687-704. doi: 10.1111/j.1538-7836.2011.04424.x. PMID: 21711446

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