Genetic disorders

Congenital hypofibrinogenemia

Genetic disorders
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Congenital hypofibrinogenemia
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Fernando Martínez Sáez
Medically reviewed by our Medical staff

Last update: 29-03-2022

How else can it be called?

  • Familial hypofibrinogenemia

  • CIE-9: 286.3

  • CIE-10: D68.2

What is congenital hypofibrinogenemia?

Congenital hypofibrinogenemia is a genetic disorder where there is a reduced level of circulating fibrinogen in the blood (below 100 mg/dl).

Fibrinogen, also called coagulation factor I, is a protein produced by the liver with a primary role in the formation of a blood clot. When there is a hemorrhage, the coagulation cascade is activated to stop the bleeding. If the fibrinogen level in the blood is low, the clotting process and the bleeding are prolonged.

What are the main causes of congenital hypofibrinogenemia?

Congenital hypofibrinogenemia is a genetic disorder due to heterozygous mutations in genes related to fibrinogen, located on chromosome 4.

  • Gene FGA (4q31.3)
  • Gene FGB (4q31.3)
  • Gene FGG (4q32.1)

It is inherited with an autosomal dominant pattern.

What are the main symptoms of congenital hypofibrinogenemia?

Many patients affected with congenital hypofibrinogenemia are asymptomatic.

The most common sign is severe bleeding after surgery or suffering an injury due to the low concentration of fibrinogen in the blood.

Hypofibrinogenemia is associated with recurrent miscarriages in the first trimester of pregnancy.

What incidence does it have?

The true incidence is unknown since many cases are asymptomatic and never come to medical attention, but it has an estimated incidence above 1 case per 1.000.000.

How can it be diagnosed?

In hypofibrinogenemia, the level of fibrinogen in the blood is reduced in the range of 20 to 100 mg/dl when the normal range is usually above 200 mg/dl.

When there is a lack of fibrinogen in the blood (the fibrinogen level is below 2 mg/dl) is called afibrinogenemia.

The screening tests for prothrombin time (PT) and activated partial thromboplastin time (aPTT) are also prolonged due to the problems in the clotting process.

What is the recommended treatment?

It is recommended to monitor the fibrinogen level in the blood to keep a value of at least 100 mg/dl. To increase the fibrinogen level in the blood there are different alternatives:

  • Fibrinogen concentrate (RiaSTAP)
  • Cryoprecipitate
  • Fresh frozen plasma (FFP)

Prior to surgery or childbirth, when there is a risk of severe bleeding, it is advisable to receive fibrinogen replacement to increase the amount of fibrinogen in the blood.

Medically reviewed by our Medical staff on 29-03-2022

Bibliography

  • Pediatric Hematology. A Practical Guide. Robert Wynn, Rukhmi Bhat, Paul Monagle. 2017. ISBN 978-1-107-43936-8. Pag 189
  • UpToDate. Disorders of fibrinogen. Caroline Bérubé, Lawrence LK Leung, Jennifer S Tirnauer. Available on: https://www.uptodate.com
  • Fibrous Proteins: Structures and Mechanisms David A.D.Parry, John M.Squire. 2017. ISBN 978-3-319-49672-6 Pag 427

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