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Congenital afibrinogenemia

MedGen UID:
749036
Concept ID:
C2584774
Disease or Syndrome
Synonyms: Afibrinogenaemia, Congenital; Afibrinogenaemias, Congenital; Afibrinogenemia, Congenital; Afibrinogenemia, Familial; Afibrinogenemias, Congenital; Afibrinogenemias, Familial; Congenital Afibrinogenaemia; Congenital Afibrinogenaemias; Congenital Afibrinogenemia; Congenital Afibrinogenemias; Congenital Hypofibrinogenemia; Congenital Hypofibrinogenemias; Familial Afibrinogenemia; Familial Afibrinogenemias; Hypofibrinogenemia, Congenital; Hypofibrinogenemias, Congenital
SNOMED CT: Congenital afibrinogenemia (154818001); Congenital hypofibrinogenemia (439145006)
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).
 
Genes (locations): FGA (4q31.3); FGB (4q31.3); FGG (4q32.1)
 
Monarch Initiative: MONDO:0008737
OMIM®: 202400
Orphanet: ORPHA98880

Definition

Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia; 616004) of the circulating fibrinogen or both (hypodysfibrinogenemia; see 616004). Afibrinogenemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial hemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. Menstruating women may experience menometrorrhagia. First-trimester abortion is common. Both arterial and venous thromboembolic complications have been reported (summary by de Moerloose and Neerman-Arbez, 2009). Hypofibrinogenemia is characterized by reduced amounts of immunoreactive fibrinogen. Patients are often heterozygous carriers of afibrinogenemia mutations and are usually asymptomatic. However, they may bleed when exposed to trauma or if they have a second associated hemostatic abnormality. Women may experience miscarriages. Liver disease occurs in rare cases (summary by de Moerloose and Neerman-Arbez, 2009). [from OMIM]

Clinical features

From HPO
Subdural hemorrhage
MedGen UID:
6775
Concept ID:
C0018946
Pathologic Function
Hemorrhage occurring between the dura mater and the arachnoid mater.
Epidural hemorrhage
MedGen UID:
66764
Concept ID:
C0238154
Finding
Hemorrhage occurring between the dura mater and the skull.
Hematemesis
MedGen UID:
6770
Concept ID:
C0018926
Sign or Symptom
The vomiting of blood.
Afibrinogenemia
MedGen UID:
7919
Concept ID:
C0001733
Disease or Syndrome
Lack of detectable fibrinogen in the blood circulation.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Gingival bleeding
MedGen UID:
42218
Concept ID:
C0017565
Pathologic Function
Hemorrhage affecting the gingiva.
Hypofibrinogenemia
MedGen UID:
107511
Concept ID:
C0553681
Disease or Syndrome
Decreased concentration of fibrinogen in the blood.
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Persistent bleeding after trauma
MedGen UID:
375403
Concept ID:
C1844374
Finding
Prolonged bleeding after dental extraction
MedGen UID:
369536
Concept ID:
C1969572
Pathologic Function
Prolonged bleeding post dental extraction sufficient to require medical intervention.
Prolonged bleeding following circumcision
MedGen UID:
868219
Concept ID:
C4022611
Finding
Bleeding that persists for a longer than usual time following circumcision.
Abnormal umbilical stump bleeding
MedGen UID:
868740
Concept ID:
C4023145
Anatomical Abnormality
Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.
Splenic rupture
MedGen UID:
11558
Concept ID:
C0038000
Injury or Poisoning
A breach of the capsule of the spleen.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Term Hierarchy

Professional guidelines

PubMed

Casini A, Neerman-Arbez M, de Moerloose P
Blood Rev 2021 Jul;48:100793. Epub 2020 Dec 26 doi: 10.1016/j.blre.2020.100793. PMID: 33419567
Stanciakova L, Kubisz P, Dobrotova M, Stasko J
Expert Rev Hematol 2016 Jul;9(7):639-48. doi: 10.1080/17474086.2016.1200967. PMID: 27291795
Santoro C, Massaro F, Venosi S, Capria S, Baldacci E, Foà R, Mazzucconi MG
Semin Thromb Hemost 2016 Jul;42(5):577-82. Epub 2016 Jun 2 doi: 10.1055/s-0036-1581103. PMID: 27253088

Recent clinical studies

Etiology

Casini A, Neerman-Arbez M, de Moerloose P
Blood Rev 2021 Jul;48:100793. Epub 2020 Dec 26 doi: 10.1016/j.blre.2020.100793. PMID: 33419567
Simurda T, Brunclikova M, Asselta R, Caccia S, Zolkova J, Kolkova Z, Loderer D, Skornova I, Hudecek J, Lasabova Z, Stasko J, Kubisz P
Int J Mol Sci 2020 Jun 29;21(13) doi: 10.3390/ijms21134616. PMID: 32610551Free PMC Article
Stanciakova L, Kubisz P, Dobrotova M, Stasko J
Expert Rev Hematol 2016 Jul;9(7):639-48. doi: 10.1080/17474086.2016.1200967. PMID: 27291795
Sartori MT, Milan M, de Bon E, Fadin M, Pesavento R, Zanon E
Haemophilia 2015 Jan;21(1):88-94. Epub 2014 Nov 24 doi: 10.1111/hae.12507. PMID: 25421938
Girolami A, Ruzzon E, Tezza F, Scandellari R, Vettore S, Girolami B
Haemophilia 2006 Jul;12(4):345-51. doi: 10.1111/j.1365-2516.2006.01299.x. PMID: 16834733

Diagnosis

Casini A, Neerman-Arbez M, de Moerloose P
Blood Rev 2021 Jul;48:100793. Epub 2020 Dec 26 doi: 10.1016/j.blre.2020.100793. PMID: 33419567
Virmond LA, Micheletti C, Pinto CMS, Soares MFF, Milanezi F, Nakano V, Perrone E
Blood Coagul Fibrinolysis 2020 Jan;31(1):65-70. doi: 10.1097/MBC.0000000000000867. PMID: 31687989
Neerman-Arbez M, Casini A
Int J Mol Sci 2018 Jan 8;19(1) doi: 10.3390/ijms19010192. PMID: 29316703Free PMC Article
Stanciakova L, Kubisz P, Dobrotova M, Stasko J
Expert Rev Hematol 2016 Jul;9(7):639-48. doi: 10.1080/17474086.2016.1200967. PMID: 27291795
al-Mondhiry H, Ehmann WC
Am J Hematol 1994 Aug;46(4):343-7. doi: 10.1002/ajh.2830460416. PMID: 8037188

Therapy

Khayat CD, Navarro-Puerto J, Ross CR, Subramanian K, Kalappanavar NK, Rucker K, Liang W, Mondou E
Blood Coagul Fibrinolysis 2023 Jan 1;34(1):61-69. Epub 2022 Dec 9 doi: 10.1097/MBC.0000000000001182. PMID: 36484281
Stanciakova L, Kubisz P, Dobrotova M, Stasko J
Expert Rev Hematol 2016 Jul;9(7):639-48. doi: 10.1080/17474086.2016.1200967. PMID: 27291795
Santoro C, Massaro F, Venosi S, Capria S, Baldacci E, Foà R, Mazzucconi MG
Semin Thromb Hemost 2016 Jul;42(5):577-82. Epub 2016 Jun 2 doi: 10.1055/s-0036-1581103. PMID: 27253088
Ozdemir MA, Işik B, Patiroglu T, Karakukcu M, Mutlu FT, Yilmaz E, Unal E
Blood Coagul Fibrinolysis 2015 Apr;26(3):354-6. doi: 10.1097/MBC.0000000000000200. PMID: 25255238
al-Mondhiry H, Ehmann WC
Am J Hematol 1994 Aug;46(4):343-7. doi: 10.1002/ajh.2830460416. PMID: 8037188

Prognosis

Casini A, Neerman-Arbez M, de Moerloose P
Blood Rev 2021 Jul;48:100793. Epub 2020 Dec 26 doi: 10.1016/j.blre.2020.100793. PMID: 33419567
Asselta R, Duga S, Tenchini ML
J Thromb Haemost 2006 Oct;4(10):2115-29. doi: 10.1111/j.1538-7836.2006.02094.x. PMID: 16999847
Awasthy N, Aggarwal KC, Gupta H, Saluja S
Indian Pediatr 2004 Feb;41(2):185-7. PMID: 15004306
Neerman-Arbez M
Ann N Y Acad Sci 2001;936:496-508. doi: 10.1111/j.1749-6632.2001.tb03536.x. PMID: 11460507
al-Mondhiry H, Ehmann WC
Am J Hematol 1994 Aug;46(4):343-7. doi: 10.1002/ajh.2830460416. PMID: 8037188

Clinical prediction guides

Nojehdeh ST, Mojbafan M, Masoodifard M, Amini M, Zeinali S
Blood Coagul Fibrinolysis 2021 Jul 1;32(5):323-327. doi: 10.1097/MBC.0000000000001041. PMID: 33901106
Virmond LA, Micheletti C, Pinto CMS, Soares MFF, Milanezi F, Nakano V, Perrone E
Blood Coagul Fibrinolysis 2020 Jan;31(1):65-70. doi: 10.1097/MBC.0000000000000867. PMID: 31687989
Santoro C, Massaro F, Venosi S, Capria S, Baldacci E, Foà R, Mazzucconi MG
Semin Thromb Hemost 2016 Jul;42(5):577-82. Epub 2016 Jun 2 doi: 10.1055/s-0036-1581103. PMID: 27253088
Asselta R, Duga S, Tenchini ML
J Thromb Haemost 2006 Oct;4(10):2115-29. doi: 10.1111/j.1538-7836.2006.02094.x. PMID: 16999847
Neerman-Arbez M
Ann N Y Acad Sci 2001;936:496-508. doi: 10.1111/j.1749-6632.2001.tb03536.x. PMID: 11460507

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