Introduction
Congenital factor XIII deficiencyIt is a rare hereditary bleeding disorder characterized by a deficiency of factor XIII. Coagulation factors are essential proteins for blood clotting. Specifically, individuals lacking Factor XIII form normal blood clots, but these clots are unstable and often rupture, resulting in prolonged, uncontrolled bleeding episodes. Factor XIII also affects other processes in the body and is known to play a role in proper wound healing and pregnancy. The severity of factor XIII deficiency bleeding can vary widely from one person to another. Some people may have only mild symptoms, others may have severe, life-threatening bleeding. Early diagnosis and timely treatment can avoid more severe bleeding from congenital factor XIII deficiency. FXIII consists of two subunits: subunit A and subunit B. Most factor XIII deficiency states are caused by mutations in subunit A; few subunit mutations. B factor XIII deficiency is an inheritance of autosomal recessive inheritance.
Cause
Mutations leading to Factor XIII deficiency are inherited as autosomal recessive traits. Genetic diseases are determined by the combination of genes for specific traits on the father's and mother's chromosomes.
When a person inherits two copies of an abnormal gene of the same trait, a recessive genetic disease occurs, one for each parent. If a person inherits a normal gene and a disease gene, the person will become the carrier of the disease, but usually does not have symptoms. The risk of both parents passing both the altered gene and the affected child was 25% per pregnancy. The risk of having a carrier like a parent is 50% per pregnancy. The chance of a child receiving a normal gene from a parent is 25%. Men and women have the same risk.
symptom
The symptoms and severity of factor XIII deficiency vary from person to person. However, in most patients (80%), symptoms appear after bleeding, and umbilical stumps are most common after bleeding. Some individuals may only have mild expression and will not become apparent until bleeding complications occur after trauma or surgery. In more severe cases, bleeding can occur spontaneously or after an activity that typically does not cause problems such as strenuous exercise. It is important to note the variability of Factor XIII deficiency and understand that the affected individual may not have all of the symptoms discussed below. Affected people should discuss their specific case, associated symptoms and overall prognosis with their doctor and medical team.
At any age, symptoms of factor XIII deficiency may become apparent, but most patients are diagnosed during infancy. Symptoms associated with Factor XIII deficiency include chronic nosebleeds (nasal bleeding), bleeding gums, skin discoloration (freckles) caused by subcutaneous bleeding, and solid swelling of blood clotting (hematoma). Affected people may easily, broadly, and unscrupulously (spontaneously) bruise. Bruises may be delayed due to minor trauma. Women with XIII deficiency may experience prolonged massive bleeding during menorrhagia (menorrhagia). Soft tissue and bleeding around the joints (hemorrhage around the joints) may also occur. Bleeding to the joint (hemoarthrosis) is rare.
Thirty percent of affected individuals may also experience spontaneous bleeding in the brain (intracranial hemorrhage), approximately 25% experience poor or delayed wound healing, and others may have increased bleeding after trauma or surgery. The risk of intracranial hemorrhage due to factor XIII is higher than other related bleeding disorders. Trauma or postoperative bleeding is initially normal, but abnormal, massive bleeding usually occurs within 12-36 hours. In homozygous children, factor XIII deficiency is also associated with recurrent miscarriage (natural abortion).
diagnosis
The diagnosis of factor XIII deficiency is based on the identification of characteristic symptoms, detailed patient history, thorough clinical evaluation and various specialized tests. Standard tests for the diagnosis of bleeding disorders such as activated partial thromboplastin time (aPTT) and prothrombin time (PT) are normal and therefore ineffective. Infants with severe or abnormal bleeding at birth may be suspected of factor XIII.
Clinical testing and inspection
The clot solubility test can be used to help diagnose Factor XIII defects. However, this test is only effective if the level of factor XIII in the affected individual is very low. In these tests, blood clots were exposed to a solution of 1% monochloroacetic acid or 5 micron urea. In individuals with a factor XIII below 1%, the blood clot will collapse. In most patients with untreated factor XIII deficiency, the activity of factor XIII in the blood is close to 0%.
To confirm the diagnosis, the amount (amount) of Factor XIII was tested in a blood sample by quantitative analysis (assay) of Factor XIII. Quantitative determination is a test that measures the amount or activity of certain substances in the blood. In the affected individuals, this would indicate a decrease in the amount and activity of Factor XIII.
treatment
Factor XIII defects can be treated with a Factor XIII concentrate. It is only necessary to increase the level of Factor XIII to prevent or prevent bleeding symptoms associated with the disease.
Factor XIII concentrate is a blood product containing Factor XIII in concentrated form for the treatment of individuals deficient in Factor XIII. These products are produced by the plasma of thousands of different blood donors. These products undergo a viral inactivation process that kills any virus or similar pathogen that may be present in the blood.
In the past, individuals lacking Factor XIII were treated with fresh frozen plasma or cryoprecipitate. If the Factor XIII concentrate is not available, fresh frozen plasma can be used. Cold sediment is no longer recommended due to the risk of infection by a virus or similar pathogen, albeit small. Fresh frozen plasma or cryoprecipitate also carries the risk of an allergic reaction.
Individuals with XIII deficiency are advised to take prophylactic (prophylactic) treatment with FXIII concentrate every 3-4 weeks in an attempt to prevent or alleviate the symptoms of the condition. Prophylactic treatment has been used to prevent most intracerebral hemorrhage. After careful consultation with the patient's medical team, she decided to receive preventive treatment for factor XIII deficiency.
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