Rare DiseasesWhat is Congenital Afibrinogenemia?

What is Congenital Afibrinogenemia?

Congenital afibrinogenemia is a condition where a person has a rare blood disorder called congenital afibrinogenemia from birth. Afibrinogenemia refers to a condition where the body severely reduces or completely lacks the ability to produce a blood clotting factor called fibrinogen. Congenital afibrinogenemia occurs due to a genetic disorder. This condition occurs as a result of a mutation in the genes that control fibrinogen production. Congenital afibrinogenemia carries a high risk of severe bleeding due to clotting deficiency. Treatment may include measures to prevent or control bleeding events. Among these measures, fibrinogen transfusions, replacement of clotting factors, medications to reduce bleeding tendency, and surgical interventions may be highlighted. Congenital afibrinogenemia is a condition that requires long-term management and follow-up, and should be monitored by a hematologist or a specialist in blood disorders.

What are the Causes of Congenital Afibrinogenemia?

The causes of congenital afibrinogenemia are based on the following hereditary factors:

Autosomal Recessive Inheritance: Congenital afibrinogenemia is inherited in an autosomal recessive manner.

Genetic Mutations: Genetic mutations that lead to congenital afibrinogenemia affect the normal structure or function of fibrinogen.

What are the Symptoms of Congenital Afibrinogenemia?

The symptoms of congenital afibrinogenemia include:

  • Excessive bleeding
  • Subcutaneous bleeding
  • Intra-articular bleeding
  • Intramuscular bleeding
  • Nosebleeds
  • Gastrointestinal bleeding
  • Urinary tract bleeding
  • Increased menstrual bleeding

How is Congenital Afibrinogenemia Diagnosed?

The diagnosis of congenital afibrinogenemia is usually made through a series of tests and examinations that include the following steps:

Physical Examination: The doctor evaluates the patient’s medical history and symptoms and performs a physical examination.

Fibrinogen Levels: Determining fibrinogen levels is a fundamental step in the diagnosis of congenital afibrinogenemia.

Coagulation Tests: Coagulation tests such as prothrombin time (PT) and activated partial thromboplastin time (APTT) are performed to evaluate clotting ability.

Genetic Tests: The diagnosis of congenital afibrinogenemia can be confirmed through genetic tests.

Imaging Tests: Radiological imaging tests may be performed to evaluate intra-articular or other internal bleeding.

How is Congenital Afibrinogenemia Treated?

Treatment for congenital afibrinogenemia involves a range of measures and interventions to reduce the risk of excessive bleeding due to fibrinogen deficiency:

Fibrinogen Transfusions: Fibrinogen transfusions are a key component of the treatment for congenital afibrinogenemia to compensate for the lack of fibrinogen.

Replacement of Coagulation Factors: Patients experiencing clotting problems due to fibrinogen deficiency may require replacement of other coagulation factors.

Medication: In some cases, medications may be used to control bleeding.

Surgical Interventions: Special precautions should be taken for patients with fibrinogen deficiency before or after surgical procedures.

Reducing the Risk of Bleeding: Individuals living with congenital afibrinogenemia should take measures to reduce the risk of bleeding in their daily lives.

How Should Congenital Afibrinogenemia be Managed?

The management of congenital afibrinogenemia aims to improve the patient’s quality of life and minimize the risk of excessive bleeding:

Regular Doctor Check-ups: Individuals with congenital afibrinogenemia should be regularly monitored by a hematologist or a specialist in blood disorders.

Fibrinogen Transfusions: Fibrinogen transfusions may be performed to control bleeding and compensate for fibrinogen deficiency.

Replacement of Coagulation Factors: Other coagulation factors may need to be replaced along with fibrinogen deficiency.

Medication: Medications may be used to control bleeding.

Surgical Interventions: Special precautions should be taken for patients with fibrinogen deficiency before or after surgical procedures.

Reducing the Risk of Bleeding: Individuals living with congenital afibrinogenemia should take measures to reduce the risk of bleeding in their daily lives.

Genetic Counseling: The risk of inheritance of the disease should be evaluated by examining the family history.

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