What Is Fibrinogen Deficiency?
This disorder is associated with the incapability to clot blood. If this factor is missing from the blood or is not efficiently working, blood will not clot after the injury. The incident can result in hemorrhaging. Fibrinogen is an essential protein for the formation of a blood clot.
What Is Fibrinogen?
Fibrinogen is also known as a factor one. It is a type of blood plasma protein produced by the liver. Fibrinogen possesses an important place in blood coagulation. Blood coagulation is one of the body's vital functions, where several cells and factors come to form a clot. Fibrinogen is a protein that helps in hemostasis. It is an important factor for blood clotting. Its deficiency may result in hemorrhage. Hemorrhage is bleeding caused by damaged blood vessels due to injuries. Congenital fibrinogen deficiency is a rare condition.
What Are the Types of Fibrinogen Deficiency?
Researchers state that this disease is caused by abnormal genetic composition.
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Sometimes, a person inherits abnormal genes from both parents, known as afibrinogenemia. This is the complete absence of fibrinogen.
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Also, sometimes, a person inherits an abnormal gene from one parent, known as hypofibrinogenemia, which is the partial loss of fibrinogen.
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The person may lack functional fibrinogen, known as dysfibrinogenemia.
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Also, in a few instances, a person may inherit both hypofibrinogenemia and dysfibrinogenemia.
What Is the Etiology of the Disorder?
Fibrinogen deficiency is a rare disorder of the blood. At conception, the parents transfer this defective gene to their progeny. DNA (deoxyribo nucleic acid) is an important factor as it is the hereditary material that a person inherit from the previous generations. There are about 30,000 to 40,000 units of different genes behind the composition of DNA, and one gene here is defective in the fibrinogen deficiency. A mutation is caused on the FGA, FGB, or FGG, causing fibrinogen deficiency. All of these play an important role in blood clot formation. This disorder has recessive and dominant traits. If both parents are carriers, it is a recessive trait, and if a single parent is a carrier, it is a dominant trait. Afibrinogenemia gets to the offspring in an autosomal recessive manner. Hypofibrinogenemia is caused due to either an autosomal dominant or recessive manner. While in dysfibrinogenemia, autosomal dominance plays an important role.
What Are the Symptoms of Fibrinogen Deficiency?
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Afibrinogenemia: This type of fibrinogen deficiency appears right after the birth of the offspring when the umbilical cord is still intact, leading to prolonged bleeding. Also, bruises can be measured as a symptom, bleeding gums, or epistaxis. Gastrointestinal hemorrhage, intracranial hemorrhage, rupture of the spleen, hemorrhage in the spleen, and genito-urinary hemorrhage are also observed in such cases.
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Hypofibrinogenaemia: The amount of fibrinogen in the blood decides the type of signs and symptoms. The symptoms may or may not appear.
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Dysfibrinogenemia: Dysfibrinogenaemia either shows no symptoms or cause hemorrhage. It can also show a tendency towards thrombosis. The symptom type depends on the fibrinogen's level of function in the blood.
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Bleeding in the head, neck, thorax, or abdomen is generally life-threatening. Patients with such a disorder should observe and learn about the symptoms to act in time if any occur. Bleeding in the brain can be serious as the brain is the king of the body. Symptoms like fainting, somnolence, imbalance, nausea, vomiting, and clumsiness can be observed when bleeding occurs in the brain. The neck, throat, and thorax tissue contains lots of small and big veins and arteries, so the bleeding there gets difficult to detect and can be fatal. Difficulty swallowing, difficulty breathing, pain in the neck, and swelling are a few symptoms to look for and ask for help as soon as possible.
How to Detect the Disorder?
If there is a family history, the fibrinogen deficiency can be detected prenatally. Chorionic villus sampling (CVS) can be done during early pregnancy or at the time of amniocentesis, around 15 to 20 weeks. At birth, it can be diagnosed with the help of blood sampling. Some tests like bleeding time (BT), prothrombin time (PT), activated partial thromboplastin time(aPTT), and thrombin time can be done. The fibrinogen levels can also be measured by functional (Clauss) and immunological assays. Computed tomography(CT) and Magnetic resonance imaging (MRI) can be useful in detecting internal bleeding.
What Are the Treatments for Fibrinogen Deficiency?
The amount of fibrinogen in the blood also decides the treatment plan. Some treatments are considered prophylactic or preventive. Generally, management is needed before surgery. People with dysfibrinogenemia will need an infusion of fresh frozen plasma (FFP) during the surgery and or after rather than the factor concentrate. Cryoprecipitate, RiaStAP(Fibrinogen ), and plasma can be transfused into the patient's blood.
What Cautions Should be Taken by the Person having fibrinogen deficiency?
People with fibrinogen deficiency must avoid Non-Steroidal Anti-Inflammatory Drugs (NSAIDs such as Ibuprofen) as they can trigger bleeding. Other alternative methods of pain relief should be practiced instead. Caution is also needed during procedures like immunizations. It should be given subcutaneously rather than intramuscularly to reduce the risk of developing painful (hematoma).
Females have to take additional measures to make their monthly periods manageable. A safety option is a transfusion of tranexamic acid before and during the menstruation while taking the contraceptive pill or having an intrauterine device (IUD) inserted. Spontaneous abortions that are recurrent sometimes can be prevented by routine prophylaxis or prevention based on the administration of fibrinogen concentrates early in pregnancy. Prevent dental problems such as gingivitis. Always stay in touch with your Hemophilia Centre if you have to get your tooth extracted or before invasive dental procedures.
Conclusion:
Life-threatening intracranial hemorrhage may occur spontaneously; still, the management of afibrinogenemia is sufficiently done with early diagnosis and adequate treatment. The prognosis of hypofibrinogenemia or dysfibrinogenemia is usually good. It can be difficult to detect the bleeding caused by fibrinogen deficiency at times, but the incident may be avoided with proper imaging or scans. Research is still going on managing the disorder more efficiently.
