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Factor XI Deficiency: Causes, Diagnosis, And Treatment - Healthline
If you have factor XI deficiency, your blood doesn't clot properly because it lacks specific proteins called "clotting factors." It causes a mild form of hemophilia and may increase bleeding.
Factor XI deficiency is a rare, inherited bleeding disorder. XI means "eleven" in Roman numerals.
Factor XI deficiency is sometimes called hemophilia C and is a relatively mild form of hemophilia. If you have factor XI deficiency, you might experience heavy menstrual periods or bleeding after surgeries, such as dental extractions.
Though there is no cure, treatments are available to help minimize symptoms and prevent future health problems.
Factor XI deficiency is a rare bleeding disorder. People with Factor XI deficiency don't have enough of a protein in the blood called factor XI.
Factor XI is a clotting factor. It is one of the few clotting factors in the blood that helps with the clotting process to control bleeding. Clotting is a process in the body by which blood solidifies to seal a wound and stop bleeding.
With a shortage of factor XI in the blood, you might experience excessive bleeding when injured or undergoing a surgical procedure. You won't bleed any faster than people without factor XI deficiency, but it may be more difficult to stop blood flow from a deep wound or surgery.
Factor XI deficiency might also be called other names, including:
The symptoms of factor XI deficiency tend to be mild compared to other types of hemophilia. There's a good chance you won't experience any symptoms at all.
If you do experience symptoms, they may include:
Bleeding risk varies from person to person.
The primary cause of factor XI deficiency is an abnormal change, called a mutation, in the genes that regulate the formation of clotting factors in the blood. Clotting factors help form clots and close bleeding wounds caused by injuries, accidents, and surgeries.
If you have this mutation, the gene responsible for giving the instructions to your body to make factor XI won't be able to do so properly. This abnormal gene may not produce enough factor XI or any factor XI at all. This results in a shortage of factor XI in the body.
Factor XI deficiency is an inherited condition. This means that the mutation responsible for this condition is passed down from parents to children.
The mutation responsible for factor XI is autosomal recessive. It's not linked to the sex chromosomes. To get factor XI deficiency from your parents, both parents must have at least one copy of the factor XI mutation.
You're considered a carrier if you carry one copy of the mutation for factor XI deficiency. Carriers may have slightly lower than average factor XI levels but typically don't have noticeable symptoms. You can only pass on the condition to your children if your partner also carries the mutation.
In rare cases, you can develop factor XI deficiency later in life. For example, it can be caused by severe liver disease since factor XI is produced in the liver. Or you may develop it if you receive a liver transplant from someone affected by factor XI deficiency. This is called acquired factor XI deficiency.
Most people with factor XI deficiency don't require treatment. If you are injured or in an accident, you might need to receive fresh frozen plasma (FFP) dripped into a vein (intravenously) to replace some of the lost clotting factors.
Your doctor may also recommend that you take medications for factor XI deficiency to help prevent bleeding before planned surgeries or before childbirth.
For minor surgeries, your doctor may prescribe tranexamic acid or aminocaproic acid tablets to take beforehand and for a few days afterward. These medications work by slowing the breakdown of clotting factors in the blood. For major surgeries, you may need to receive FFP.
You should avoid taking nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen or aspirin, before or after surgery. These medications may increase your risk of bleeding.
Factor XI deficiency is a bleeding disorder that can make it difficult for your body to clot properly following an injury or surgery. Symptoms are usually mild.
If you have factor XI deficiency, it's important to talk with your doctor about the need for medications or plasma infusions before an operation, during menstruation, or during childbirth.
If you plan to have children, preconception and prenatal counseling can also help you understand the chances of passing this disorder to your kids.
Hemophilia C: Inheritance, Symptoms, Treatment, And More - Healthline
Hemophilia C is a rare, inherited blood disorder due to a deficiency of blood clotting protein Factor XI. It's less severe than hemophilia A and B and is inherited differently. Still, it can cause excessive bleeding.
Hemophilia is a rare genetic disorder that prevents your blood from clotting properly. This can lead to heavy bleeding, which can be life threatening.
In healthy people, blood clots when there is damage to a blood vessel. Blood clotting is a complicated process that requires different protein molecules called clotting (or coagulation) factors. There are 13 clotting factors, numbered using Roman numerals from I to XIII.
Hemophilia occurs when there is a mutation (change) in one of the genes that make your clotting factors. There are several types of hemophilia, which doctors classify according to which clotting factor is affected. Hemophilia C results from a mutation in factor XI. It's also called factor XI deficiency or Rosenthal syndrome.
In this article, we'll talk about hemophilia C — its causes, symptoms, diagnosis, treatment, and outlook for people with this condition.
Hemophilia C is an autosomal disease. This means that the F11 gene responsible for this condition is not located in one of the sex chromosomes (X or Y). This is different from hemophilia A and B, both of which are the result of genes in the X chromosome.
Hemophilia C is also a recessive disease. This means you need two copies of the mutated F11 gene (one from each parent) to have symptoms. People with one copy are called carriers and can pass this condition to their children.
In rare cases, some people experience symptoms of hemophilia C with only one copy of the mutated gene.
How common is hemophilia C?Hemophilia C is very rare. Experts estimate it affects only 1 out of 100,000 people in the world.
But some people may have a higher risk of developing this condition. For example, experts estimate that up to 8% of Ashkenazi Jews living in Israel have this disorder.
A doctor may suspect hemophilia based on your symptoms or if you're related to someone with the condition.
To diagnose hemophilia C, a doctor called a hematologist will likely order a series of blood tests to look at your blood, its coagulation (clotting) properties, and the levels of clotting factors. These tests include:
They may also order a genetic test to confirm the diagnosis and identify the specific genetic mutation responsible for the disorder.
After confirming a diagnosis, your doctor may recommend genetic counseling, especially if you're planning to have children.
Hemophilia C is a rare bleeding disorder caused by a mutation in the F11 gene that makes clotting factor XI. It's mostly an autosomal recessive genetic disorder, meaning you need two copies of the mutated gene to have the condition. Still, there are reported cases where people have hemophilia C with only one mutated gene.
Hemophilia C is different from other types of hemophilia. It's a relatively mild condition that affects all genders equally. Many people with this condition may not know they are affected until they have a procedure, most often dental surgery.
Most people with hemophilia C don't need treatment unless they have severe bleeding. Healthcare professionals can control the bleeding with fresh frozen plasma and certain medications.
Although hemophilia C is potentially life threatening, most people enjoy long and healthy lives. Still, it's important to avoid activities that can cause injuries.
What Is Hemophilia C? - Medical News Today
Hemophilia C, also known as factor XI deficiency, is a type of bleeding disorder. It occurs due to a deficiency in factor XI, which is a protein that plays an important role in the formation of blood clots.
Hemophilia is a group of bleeding disorders. The term hemophilia derives from Greek and refers to the characteristic symptom of excessive bleeding.
There are many types of hemophilia, but they all occur due to problems with forming a blood clot.
Also known as plasma thromboplastin antecedent deficiency, or Rosenthal syndrome, hemophilia C occurs due to problems with blood clotting factor XI. Without this specific protein in the blood, injured blood vessels cannot form a blood clot and heal in the usual way.
A note about sex and genderSex and gender exist on spectrums. This article will use the terms "male," "female," or both to refer to sex assigned at birth. Click here to learn more.
The cause and defining characteristic of hemophilia C is a deficiency in factor XI. This occurs due to a variation in the F11 gene, which is responsible for producing this blood clotting factor.
This gene alteration results in a reduction in the amount of factor XI in the bloodstream or the production of factor XI that does not function correctly. As such, a deficiency of functional factor XI slows blood clotting, which can cause episodes of excessive bleeding.
During the blood clotting cascade, factor XI plays the important role of helping to generate thrombin. This is a protein in the blood that converts fibrinogen to fibrin. This process traps platelets, which helps to hold a blood clot in place.
There are many different types of hemophilia that impact different parts of the blood clotting cascade. Also known as the coagulation cascade, this describes a series of processes that result in the formation of a blood clot. A deficiency in any of these clotting factors can lead to spontaneous bleeding or severe bleeding after trauma.
Hemophilia A is the most common type of hemophilia. It occurs due to a deficiency of factor VIII due to variations in the F8 gene. Hemophilia B is another common type of hemophilia. It develops due to a variation in the F9 gene, which results in a deficiency of factor IX.
As such, there are many less common factor deficiencies, which include:
Unlike some other types of hemophilia, factor XI deficiency affects males and females in equal numbers. This is because unlike other genes for hemophilia, which are present on the X chromosome, the F11 gene is present on chromosome 4. It is the second most common bleeding disorder that affects females, after von Willebrand's disease.
Hemophilia C can impact people of any age and any ethnic group. However, it is more prevalent in certain populations. The incidence of hemophilia C is roughly 1 in 1,000,000 in the general population.
However, it is more prevalent in people with Ashkenazi Jewish ancestry, occurring in about 1 in 450 individuals in that population. It also affects a higher number of people in the Basque population of Southern France.
Inherited
Typically, hemophilia C is an inherited genetic condition. This means that a person inherits the gene alterations from their parents. Usually, a person will inherit hemophilia C in an autosomal recessive pattern. This means a person will need to inherit the gene variation from both parents for the condition to develop.
While hemophilia C usually follows an autosomal recessive pattern, some people, such as those of Ashkenazi Jewish ancestry, may inherit it through an autosomal dominant pattern (from one parent). This may explain why hemophilia C is more prevalent in this population.
Some people may inherit one copy of the gene variation and not develop the condition. These individuals are known as carriers, as they can pass the alteration on to their children. Although these people do not develop a severe form of hemophilia C, they may still have slightly lower than normal factor XI levels and experience mild symptoms.
Acquired
While most cases of hemophilia C occur due to inheritance, it is also possible to develop the condition later in life. When this occurs, it is known as acquired hemophilia C.
Generally, this may occur due to problems with the liver, as production of factor XI primarily occurs in the liver. As such, it can result from liver disease or from receiving a liver transplant from an individual with a factor XI deficiency. Additionally, it may also occur from the immune system mistakenly attacking the factor XI protein.
In some cases, a person may receive a diagnosis of hemophilia C before birth if there is a family history.
In other cases, a person will typically receive a diagnosis after a blood test. These tests will measure the ability of the blood to clot and how quickly it can clot. These may include:
To confirm a diagnosis, a factor XI assay may be necessary. An assay can measure the activity of certain substances in the blood. As such, a factor XI assay will demonstrate a reduced activity of factor XI.
A potential complication of hemophilia C, and other types of hemophilia, is the development of autoantibodies known as inhibitors.
Autoantibodies refer to proteins that the immune system produces that mistakenly target healthy tissues. In this case, the inhibitors target replacement factor XI, which can impact the effectiveness of treatment. To help manage this, a doctor may recommend additional therapy, such as factor VII therapy.
If a person does not have problematic symptoms of hemophilia C, treatment may not be necessary. In many cases, a person may only require treatment prior to undergoing some types of surgery or similar procedures.
Treatment can involve replacement therapy with factor XI concentrates. This refers to blood products that scientists produce in a laboratory that contain a concentrated form of factor XI. However, factor XI concentrates are not available in the United States.
Instead, in the U.S., people will receive fresh frozen plasma (FFP). This is a blood derivative that comes from blood donors and is rich in clotting factors, such as factor XI. However, as it is not a concentrate, large volumes of FFP are often necessary.
Other treatment options include fibrin glue to help treat skin injuries, tranexamic acid, which can help make blood clots more stable, and aminocaproic acid, which helps to control nosebleeds and bleeding after dental procedures.
Individuals may also need to take additional measures to make their monthly period manageable. This may include using tranexamic acid or using contraceptive methods, such as birth control pills.
It is also advisable that people with severe factor XI deficiency avoid nonsteroidal anti-inflammatory drugs (NSAIDs). This is because these drugs can increase the risk of bleeding. Instead, it is advisable to use other methods of pain relief.
Hemophilia C is a bleeding disorder. It typically occurs due to a deficiency of clotting factor XI, which plays a role in the formation of blood clots.
People may not always experience symptoms. However, a deficiency of clotting factor XI can result in excessive bleeding, particularly after surgery. Treatments, such as factor XI concentrates and fresh frozen plasma, can help with blood clot formation and make symptoms manageable.
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