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Afibrinogenemia, congenital

MedGen UID:
749036
Concept ID:
C2584774
Disease or Syndrome
Synonyms: HYPOFIBRINOGENEMIA, CONGENITAL, SEVERE
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Congenital afibrinogenemia (154818001); Congenital hypofibrinogenemia (439145006)
 
Genes (locations): FGA (4q31.3); FGB (4q31.3); FGG (4q32.1)
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]

Additional description

From GHR
Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some affected individuals experience bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this disorder may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.  https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia

Clinical features

Splenic rupture
MedGen UID:
11558
Concept ID:
C0038000
Injury or Poisoning
A breach of the capsule of the spleen.
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
Disease or Syndrome
A coagulation disorder characterized by a tendency for excessive bleeding.
Splenic rupture
MedGen UID:
11558
Concept ID:
C0038000
Injury or Poisoning
A breach of the capsule of the spleen.

Term Hierarchy

Recent clinical studies

Etiology

Négrier C, Rothschild C, Borg JY, Lambert T, Claeyssens S, Sanhes L, Stieltjes N, Bertrand A, André MH, Sié P, Gruel Y, Tellier Z
Vox Sang 2016 Nov;111(4):383-390. Epub 2016 Sep 1 doi: 10.1111/vox.12424. PMID: 27583698
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
Falsoleiman H, Daloee MH, Dehghani M, Rohani A, Bayani B
Asian Cardiovasc Thorac Ann 2013 Jun;21(3):358-9. doi: 10.1177/0218492312455180. PMID: 24570509
Pati S, Kombogiorgas D, Anwar A, Price RF
Surg Neurol 2009 Jun;71(6):689-92, discussion 692. Epub 2008 Mar 4 doi: 10.1016/j.surneu.2007.10.034. PMID: 18295846

Diagnosis

Malaquin S, Rebibo L, Chivot C, Badoux L, Mahjoub Y, Dupont H
Medicine (Baltimore) 2016 Jul;95(28):e4150. doi: 10.1097/MD.0000000000004150. PMID: 27428204Free 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
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
Kaur M, Kumar N, Bose SK, Rajendran A, Trehan A, Ahluwalia J
Blood Coagul Fibrinolysis 2014 Jul;25(5):527-9. doi: 10.1097/MBC.0000000000000086. PMID: 24509333
Falsoleiman H, Daloee MH, Dehghani M, Rohani A, Bayani B
Asian Cardiovasc Thorac Ann 2013 Jun;21(3):358-9. doi: 10.1177/0218492312455180. PMID: 24570509

Therapy

Négrier C, Rothschild C, Borg JY, Lambert T, Claeyssens S, Sanhes L, Stieltjes N, Bertrand A, André MH, Sié P, Gruel Y, Tellier Z
Vox Sang 2016 Nov;111(4):383-390. Epub 2016 Sep 1 doi: 10.1111/vox.12424. PMID: 27583698
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
Falsoleiman H, Daloee MH, Dehghani M, Rohani A, Bayani B
Asian Cardiovasc Thorac Ann 2013 Jun;21(3):358-9. doi: 10.1177/0218492312455180. PMID: 24570509

Prognosis

Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Casini A, de Moerloose P, Neerman-Arbez M
Semin Thromb Hemost 2016 Jun;42(4):366-74. Epub 2016 Mar 28 doi: 10.1055/s-0036-1571339. PMID: 27019462
Chandan GD, Annaji AG, Bhatnagar S, Mohandas U, Dave P
J Indian Soc Pedod Prev Dent 2011 Jan-Mar;29(1):46-9. doi: 10.4103/0970-4388.79933. PMID: 21521918
Robert-Ebadi H, de Moerloose P, El Khorassani M, El Khattab M, Neerman-Arbez M
Blood Coagul Fibrinolysis 2009 Jul;20(5):385-7. doi: 10.1097/MBC.0b013e328329f2a0. PMID: 19417632
Simsek I, de Mazancourt P, Horellou MH, Erdem H, Pay S, Dinc A, Samama MM
Blood Coagul Fibrinolysis 2008 Apr;19(3):247-53. doi: 10.1097/MBC.0b013e3282f564fd. PMID: 18388508

Clinical prediction guides

Négrier C, Rothschild C, Borg JY, Lambert T, Claeyssens S, Sanhes L, Stieltjes N, Bertrand A, André MH, Sié P, Gruel Y, Tellier Z
Vox Sang 2016 Nov;111(4):383-390. Epub 2016 Sep 1 doi: 10.1111/vox.12424. PMID: 27583698
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
Fish RJ, Di Sanza C, Neerman-Arbez M
Blood 2014 Apr 3;123(14):2278-81. Epub 2014 Feb 19 doi: 10.1182/blood-2013-12-547182. PMID: 24553182Free PMC Article
Robert-Ebadi H, de Moerloose P, El Khorassani M, El Khattab M, Neerman-Arbez M
Blood Coagul Fibrinolysis 2009 Jul;20(5):385-7. doi: 10.1097/MBC.0b013e328329f2a0. PMID: 19417632
Aygören-Pürsün E, Martinez Saguer I, Rusicke E, Louwen F, Geka F, Ivaskevicius V, Oldenburg J, Klingebiel T, Kreuz W
Am J Hematol 2007 Apr;82(4):317-20. doi: 10.1002/ajh.20802. PMID: 17034026

Recent systematic reviews

Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de Moerloose P
J Thromb Haemost 2017 May;15(5):876-888. Epub 2017 Mar 6 doi: 10.1111/jth.13655. PMID: 28211264
Nagler M, Kremer Hovinga JA, Alberio L, Peter-Salonen K, von Tengg-Kobligk H, Lottaz D, Neerman-Arbez M, Lämmle B
Thromb Haemost 2016 Sep 27;116(4):722-32. Epub 2016 Jul 7 doi: 10.1160/TH16-02-0082. PMID: 27384135
van Meegeren ME, de Rooy JW, Schreuder HW, Brons PP
Haemophilia 2014 Mar;20(2):244-8. Epub 2013 Nov 29 doi: 10.1111/hae.12337. PMID: 24533951
Aubrey-Bassler FK, Sowers N
BMC Emerg Med 2012 Aug 14;12:11. doi: 10.1186/1471-227X-12-11. PMID: 22889306Free PMC Article
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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