Congenital afibrinogenemia is a condition where a person is born with a rare blood disorder called afibrinogenemia. Afibrinogenemia refers to a condition where the body has severely reduced or no 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 serious risk of bleeding due to a deficiency in blood clotting. Treatment may involve measures to prevent or manage bleeding events. These measures may include fibrinogen transfusions, replacement of clotting factors, medications to reduce bleeding tendency, and surgical interventions. 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.
Causes of Congenital Afibrinogenemia
The causes of congenital afibrinogenemia are based on the following genetic 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.
Symptoms of Congenital Afibrinogenemia
The symptoms of congenital afibrinogenemia include:
- excessive bleeding
- subcutaneous bleeding
- joint bleeding
- muscle bleeding
- nosebleeds
- gastrointestinal bleeding
- urinary tract bleeding
- increased menstrual bleeding
Diagnosis of Congenital Afibrinogenemia
The diagnosis of congenital afibrinogenemia is usually made through a series of tests and examinations, including 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 assess the 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 joint bleeding or other internal bleeding.
Treatment of Congenital Afibrinogenemia
The treatment of congenital afibrinogenemia involves a range of measures and interventions aimed at reducing the risk of excessive bleeding due to fibrinogen deficiency:
Fibrinogen Transfusions: Fibrinogen transfusions are a key element of the treatment of 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 can 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.
Management of Congenital Afibrinogenemia
The management of congenital afibrinogenemia aims to improve the patient’s quality of life and minimize the risk of excessive bleeding:
Regular Doctor Follow-ups: Individuals with congenital afibrinogenemia should be regularly monitored by a hematologist or specialist in blood disorders.
Fibrinogen Transfusions: Fibrinogen transfusions can be performed to control bleeding and compensate for fibrinogen deficiency.
Replacement of Coagulation Factors: In addition to fibrinogen deficiency, replacement of other coagulation factors may be necessary.
Medication: Medications can 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.
