What Is Fibrinogen?
A protein called fibrinogen, which is made in the liver, is necessary for several processes, including the formation of blood clots, wound healing, inflammation, and blood vessel growth. This blood clotting factor circulates throughout the body in the highest concentration of any blood clotting factor. After approximately six days in the bloodstream, fibrinogen degrades. Fibrinogen is a positive acute-phase protein, which means that injury, infection, and inflammation cause an increase in its production. A protein created in the liver is called fibrinogen. In response to injury, infection, or inflammation, it aids in the formation of blood clots, the healing of wounds, and the growth of new blood vessels. Its primary roles include assisting with blood clotting, controlling how blood clots break down, and participating in immune defense and healing.
What Is Dysfibrinogenemia?
Dysfibrinogenemia, a very uncommon disorder that affects both the structural and functional makeup of fibrinogen, belongs to a diverse group of disorders. It is linked to mutations in all three of the fibrinogen subunits. Normal fibrinogen levels characterize it, but structural issues prevent the molecule from performing as it should. Of those with this disorder, most patients are symptom-free, a few experience excessive bleeding, and the remaining experience excessive clotting. Other signs include skin necrosis, arterial blood clots, problems during pregnancy, and delayed wound healing (tissue death).
Bleeding can range from minor to menorrhagia, postpartum, intracranial, or joint bleeding, and it frequently follows surgery or trauma.
Most of the time, congenital dysfibrinogenemia is autosomal dominant, meaning that only one parent must have the condition for their child to inherit it. Therefore, those affected are typically diagnosed as adults, possibly after passing it on to their offspring. Although inherited mutations are the most common cause of dysfibrinogenemia, there have been a few rare cases of acquired dysfibrinogenemia.
With acquired dysfibrinogenemia, fibrinogen becomes dysfunctional due to liver disease, autoimmune disorders, plasma cell dyscrasias, or specific cancers. It is mostly connected to pathological bleeding.
What Causes Dysfibrinogenemia?
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Dysfibrinogenemia is brought on by acquired conditions that result in an imbalance between fibrinogen mass and function. Post-translational sialylation, as seen in liver disease, or autoantibodies interfering with the polymerization of the fibrinogen molecules, as seen in systemic lupus erythematosus (an inflammatory autoimmune disease), myeloma (plasma cell cancer), drug therapy, or possibly idiopathic causes, can cause this.
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As a genetic disorder, dysfibrinogenemia is brought on by one or more genes that do not function properly. The disease-causing variations in the FGA (fibrinogen alpha chain), FGB (fibrinogen beta chain), and FGG (fibrinogen gamma chain) genes usually cause this disease. The more prevalent acquired form of dysfibrinogenemia is typically brought on by tumors, cirrhosis (scarring of the liver), hepatitis, or other liver conditions. However, acquired dysfibrinogenemia can also be brought on by autoimmune conditions.
What Symptoms and Signs Indicate Dysfibrinogenemia?
These diseases may show symptoms at one particular age or several different ages. Different body parts may be affected by the disease's symptoms. It can manifest their symptoms at any point in a person's life.
This disease might cause these symptoms:
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Abnormal bleeding (a bleeding diathesis is a term used to describe a condition where bleeding is abnormally susceptible. Vascular, platelet, and coagulation defects could all play a role in a bleeding disorder).
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Epistaxis (bleeding restricted to the nose is referred to as a nosebleed).
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Gastrointestinal bleeding (internal bleeding that affects the digestive system).
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Gingival bleeding (bleeding that affects the gingiva).
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Thrombus in the veins (obstruction of blood flow caused by developing a blood clot (thrombus) inside a vein).
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Fatigue.
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Weakness.
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Difficulty breathing.
How to Diagnose Dysfibrinogenemia?
To begin the diagnostic process, the doctor asks about the patient's symptoms and diagnoses. The physician will examine the patient's body during the physical examination to find any outward indications of a medical condition. A few tests include the following.
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Genetic Testing- A genetic test looks for DNA (deoxyribonucleic acid) alterations in a person that are known to be the root of a disease or other health issue. A genetic test may be requested for various reasons, and there are various genetic test types. Genetic tests are frequently used to support or disprove a diagnosis. A blood, saliva, or other tissue sample is used in genetic tests. A local laboratory may collect the sample.
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Fibrinogen Test- It measures the blood protein fibrinogen levels in the body. The physician may recommend a fibrinogen test if individuals exhibit symptoms of a bleeding disorder or experience excessive bleeding.
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Diagnostic Imaging- This allows medical professionals to examine the internal organs for signs of this condition. Images of the internal organs and processes in the body can be produced using various tools and methods.
The confirmatory test is the fibrinogen clotting activity-antigen ratio, and the screening tests are the thrombin time and reptilase time (RT).
How to Treat Dysfibrinogenemia?
Dysfibrinogenemia most commonly presents with asymptomatic patients, but a potentiality for bleeding or thrombosis may complicate the clinical course. Thrombosis-prone patients need long-term anticoagulation, particularly those with a fibrinogen variant linked to the disease. In addition, pregnancy and surgical management raise significant and challenging issues. Generally, the following treatment protocols are followed.
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Antifibrinolytic Agents- Patients with certain conditions, such as hemophilia, extremely heavy menstrual bleeding, or some types of vascular tumors, may use this to help prevent or treat serious bleeding. Additionally, they may be used to lessen or stop bleeding before, during, or after surgery or in the aftermath of a serious injury.
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Fibrinogen Supplementation- This, in the form of FC (fibrinogen concentrate) for traumatic hemorrhagic patients, is linked to better outcomes and fewer transfusion needs. This is one of the best ways to supplement fibrinogen in the resuscitation of trauma patients.
Conclusion:
An abnormal form of fibrinogen characterizes a coagulation disorder called dysfibrinogenemia. The liver produces a protein called fibrinogen that aids in the formation of blood clots, which reduces bleeding. Abnormal fibrinogen can result in either an increased or decreased ability to clot and causes defective clot formation.
Dysfibrinogenemia can either be acquired or inherited (congenital). Most individuals with this form are symptom-free and do not require medical attention. Each patient's treatment is different based on their symptoms and severity. However, some people either have thrombotic disorders (excessive clotting) or bleeding disorders, while others have both.
