Summary about Disease
Fibrinogen deficiency refers to a group of rare bleeding disorders characterized by a reduced level or abnormal function of fibrinogen, a protein essential for blood clot formation. These deficiencies can be congenital (inherited) or acquired. Congenital deficiencies are categorized as afibrinogenemia (complete absence of fibrinogen), hypofibrinogenemia (low levels of fibrinogen), or dysfibrinogenemia (dysfunctional fibrinogen). Acquired deficiencies can result from conditions like liver disease, disseminated intravascular coagulation (DIC), or severe malnutrition.
Symptoms
Symptoms vary widely depending on the severity of the deficiency. Common symptoms include:
Easy bruising
Nosebleeds (epistaxis)
Gum bleeding
Heavy menstrual bleeding (menorrhagia)
Prolonged bleeding after injuries, surgery, or childbirth
Delayed wound healing
In rare cases, spontaneous bleeding into joints or muscles
Umbilical cord bleeding in newborns
Causes
Congenital (inherited): Caused by mutations in genes responsible for fibrinogen production (primarily the FGA*, *FGB*, and *FGG* genes). These mutations disrupt the synthesis, structure, or function of fibrinogen. Inheritance is typically autosomal recessive, meaning both parents must carry the mutated gene for a child to be affected.
Acquired:
Liver disease (as the liver produces fibrinogen)
Disseminated Intravascular Coagulation (DIC)
Severe malnutrition
Massive blood transfusion
Medicine Used
Treatment focuses on preventing and controlling bleeding episodes. Common medicines used include:
Cryoprecipitate: Contains concentrated fibrinogen and other clotting factors.
Fresh Frozen Plasma (FFP): Contains fibrinogen and other coagulation factors.
Fibrinogen Concentrate: A purified fibrinogen product.
Antifibrinolytic agents: Medications like tranexamic acid or aminocaproic acid, which help stabilize blood clots and reduce bleeding.
Topical hemostatic agents: Used to control bleeding at wound sites.
Is Communicable
Fibrinogen deficiency is not communicable. Congenital forms are genetic and inherited, while acquired forms are caused by underlying medical conditions, not infectious agents.
Precautions
Individuals with fibrinogen deficiency should take the following precautions:
Inform all healthcare providers (doctors, dentists, surgeons) about their condition before any procedures.
Avoid activities that carry a high risk of injury.
Wear a medical alert bracelet or carry a card stating their condition.
Have a plan for managing bleeding episodes, including access to necessary medications.
Avoid medications that can increase the risk of bleeding, such as aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs), unless specifically prescribed by a doctor.
How long does an outbreak last?
Fibrinogen deficiency is not an "outbreak" situation, because it is either inherited or a result of another condition. Bleeding episodes can last from a few minutes to several days, depending on the severity and location of the bleed, and the effectiveness of treatment. The overall condition is chronic, meaning it is ongoing.
How is it diagnosed?
Diagnosis typically involves:
Medical history and physical examination: Assessing bleeding history and symptoms.
Coagulation tests:
Prothrombin time (PT)
Activated partial thromboplastin time (aPTT)
Thrombin time (TT) – often prolonged
Fibrinogen level: Quantitative measurement of fibrinogen in the blood.
Fibrinogen activity: Assesses the functional activity of fibrinogen.
Mixing studies: To determine if the prolonged clotting times are due to a factor deficiency or an inhibitor.
Genetic testing: For suspected congenital deficiencies, to identify specific gene mutations.
Timeline of Symptoms
Afibrinogenemia: Often diagnosed in infancy due to umbilical cord bleeding.
Hypofibrinogenemia and Dysfibrinogenemia: May present at any age, depending on the severity of the deficiency. Symptoms may become more apparent after injuries, surgeries, or during menstruation.
Acquired: Symptoms develop in correlation with the condition which is causing the decline in fibrinogen.
Important Considerations
Genetic counseling is recommended for families with a history of congenital fibrinogen deficiency.
Prompt treatment of bleeding episodes is crucial to prevent complications.
Regular monitoring of fibrinogen levels is important for managing the condition.
Patients with fibrinogen deficiency should work closely with a hematologist (blood specialist) to develop an individualized management plan.
Acquired fibrinogen deficiency should be managed by treating the underlying cause.