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Familial hypodysfibrinogenemia

MedGen UID:
347987
•Concept ID:
C1859970
•
Disease or Syndrome
Synonym: Hypodysfibrinogenemia, congenital
 
Monarch Initiative: MONDO:0016638
OMIM®: 134820; 616004
Orphanet: ORPHA248408

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Clinical Features and Management of Congenital Fibrinogen Deficiencies.
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
Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen.
Haverkate F, Samama M
Thromb Haemost 1995 Jan;73(1):151-61. PMID: 7740487

Recent clinical studies

Etiology

A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family.
Xie X, Du J, Geng S, Yi B, Li Q, Zuo J
Hereditas 2024 Feb 20;161(1):9. doi: 10.1186/s41065-024-00313-3. PMID: 38374144Free PMC Article
Diagnosis of congenital fibrinogen disorders.
Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Can the phenotype of inherited fibrinogen disorders be predicted?
Casini A, de Moerloose P
Haemophilia 2016 Sep;22(5):667-75. Epub 2016 Jun 13 doi: 10.1111/hae.12967. PMID: 27293018
Clinical Features and Management of Congenital Fibrinogen Deficiencies.
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
Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen.
Haverkate F, Samama M
Thromb Haemost 1995 Jan;73(1):151-61. PMID: 7740487

Diagnosis

Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation.
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
Diagnosis of congenital fibrinogen disorders.
Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Can the phenotype of inherited fibrinogen disorders be predicted?
Casini A, de Moerloose P
Haemophilia 2016 Sep;22(5):667-75. Epub 2016 Jun 13 doi: 10.1111/hae.12967. PMID: 27293018
Clinical Features and Management of Congenital Fibrinogen Deficiencies.
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
Rare deletion from the fibrinogen Bβ gene in a patient with a provoked venous thrombotic event.
Shen YM, Sarode R, Bhogaraju A, Brennan S
Blood Coagul Fibrinolysis 2011 Oct;22(7):613-5. doi: 10.1097/MBC.0b013e328349f1b8. PMID: 21959590

Therapy

Clinical Features and Management of Congenital Fibrinogen Deficiencies.
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

Prognosis

Fibrinogen Mahdia: A congenitally abnormal fibrinogen characterized by defective fibrin polymerization.
Amri Y, Jouini H, Becheur M, Dabboubi R, Mahjoub B, Messaoud T, Sfar MT, Casini A, de Moerloose P, Toumi NEH
Haemophilia 2017 Jul;23(4):e340-e347. Epub 2017 Jun 8 doi: 10.1111/hae.13268. PMID: 28594476
Diagnosis of congenital fibrinogen disorders.
Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Can the phenotype of inherited fibrinogen disorders be predicted?
Casini A, de Moerloose P
Haemophilia 2016 Sep;22(5):667-75. Epub 2016 Jun 13 doi: 10.1111/hae.12967. PMID: 27293018
Clinical Features and Management of Congenital Fibrinogen Deficiencies.
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
Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk).
Lefebvre P, Velasco PT, Dear A, Lounes KC, Lord ST, Brennan SO, Green D, Lorand L
Blood 2004 Apr 1;103(7):2571-6. Epub 2003 Nov 13 doi: 10.1182/blood-2003-07-2316. PMID: 14615374

Clinical prediction guides

A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family.
Xie X, Du J, Geng S, Yi B, Li Q, Zuo J
Hereditas 2024 Feb 20;161(1):9. doi: 10.1186/s41065-024-00313-3. PMID: 38374144Free PMC Article
Diagnosis of congenital fibrinogen disorders.
Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Can the phenotype of inherited fibrinogen disorders be predicted?
Casini A, de Moerloose P
Haemophilia 2016 Sep;22(5):667-75. Epub 2016 Jun 13 doi: 10.1111/hae.12967. PMID: 27293018
Fibrinogen Seoul (FGG Ala341Asp): a novel mutation associated with hypodysfibrinogenemia.
Song KS, Park NJ, Choi JR, Doh HJ, Chung KH
Clin Appl Thromb Hemost 2006 Jul;12(3):338-43. doi: 10.1177/1076029606291383. PMID: 16959688
Episodes of increased fibronectin level observed in a patient suffering from recurrent thrombosis related to congenital hypodysfibrinogenaemia (fibrinogen Malmoe).
Soria J, Soria C, Hedner U, Nilsson IM, Bergqvist D, Samama M
Br J Haematol 1985 Dec;61(4):727-38. doi: 10.1111/j.1365-2141.1985.tb02887.x. PMID: 4084461

Recent systematic reviews

Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation.
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

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