Factor XI deficiency

Thanks to the major improvements in treatment and therapies, people with factor XI deficiency are likely to live a normal lifespan.

Your child’s school should know about his bleeding disorder so that if a bleeding episode happens at school they will have a plan in place for treatment and care.

People with factor XI bleed because they lack or have a shortage of factor XI, a protein in their blood that is supposed to help them stop bleeding when they get hurt. We all have many proteins in our blood that work together to form a sticky substance called a clot. This clot then sticks to a place where we get hurt to stop the blood from leaking out. Factor XI is a protein that helps to form a clot. People who don’t have as much factor XI in their blood have a difficult time forming a clot. If a clot can’t form when you get hurt, you just keep bleeding. This is why people with factor XI may bleed for a long time unless they get medication to stop the bleeding.

If your child has factor XI deficiency, it is likely you and your partner are "carriers" for factor XI deficiency. Carriers are people who do not have factor XI deficiency-related health problems themselves, but can pass on genetic changes which cause factor XI deficiency. If you are a carrier, your siblings and parents each have a 1 in 2, or 50%, chance to be carriers for factor XI deficiency as well. They can speak to a genetic counselor about testing to determine if they are carriers and their chances of having a child with factor XI deficiency.

If you have a child with factor XI deficiency, your other children should be tested for factor XI deficiency. It is important to test your children because people with factor XI deficiency can begin showing symptoms at different ages. Earlier diagnosis makes management and treatment easier.

There is an app called Hemoglobe in the iTunes App Store where people with factor XI deficiency list their location and contact information so you can find people near you with your disease. You can also join one of the Facebook support groups and meet people through there. Additionally, your local genetic counselors and hematologists may be able to identify local support groups.

You can tell them that, “having a factor XI deficiency means that when I bleed, my body has a hard time stopping the bleed, so I bleed longer than most people. I’m missing a protein that has an important job in stopping the bleed, so it takes longer for the bleeding to stop. I also bruise easier than most people.”

Similar to hemophilia A, there are two types of inhibitors; low-responding and high-responding. Low-responding means that they have a low amount of antibodies in response to factor treatment. These inhibitors may disappear without any kind of treatment. High-responding means that they have a high amount of antibodies in their blood whenever they take factor treatment.

Steps to take to avoid having complications from factor XI deficiency include:

If you have a factor XI deficiency, you should see a hematologist for your care. A hematologist can provide recommendations specific to your bleeding disorder and symptoms. You should see a dentist who is familiar with bleeding disorders for your dental care. If you are a woman with factor XI deficiency, you should see a gynecologist familiar with bleeding disorders for treatment for heavy menstrual bleeding.

Nosebleeds can happen often if you have factor XI deficiency and you should discuss their treatment with your physician. They may be annoying, but very rarely require any advanced treatment. It is important that you tilt your head forward, and pinch your nose below the cartilage part of the nose. Alternate between pinching your nose for 10 minutes and placing ice on your nose. Do not tilt your head back or you may risk swallowing blood. If you feel the bleeding continues for too long, talk to your doctor or hemophilia treatment center. It may help you reduce nosebleeds in the dry months if you have a humidifier or saline nose drops.

Tylenol and other acetaminophen medications are safe to take if you have factor XI deficiency. Aspirin, ibuprofen, and other non-steroidal anti-inflammatory drugs (NSAIDs) may increase bleeding and are not safe for someone with factor XI deficiency. As always, individuals should check with their doctor before taking any medications.

Early diagnosis and treatment is the key to success. If you or your child has factor XI deficiency, you should be aware of the earliest signs of bleeding. Feelings of pain, tingling or warmth may mean that bleeding is occurring on the inside of your body. Bleeding on the inside is just as serious as bleeding on the outside, even if you can’t see it. The earlier you treat the symptoms, the less likely there will be permanent damage. If a person is not sure if there is a bleed, treat first and observe. If the symptoms are still there after you treat, call your doctor or Hemophilia Treatment Center.

There are two different types of factor concentrates for factor XI deficiency based on where the factor comes from. Plasma-derived factor concentrate is concentrated plasma collected from human blood donors from across the nation. Synthetic factor concentrates are not made from human blood, but rather synthetic products. Synthetic products are not available in the US at this time.

Stimate is the name for the nasal form of DDAVP for treatment of factor XI deficiency. This medication is taken through a nasal spray.

Factor XI deficiency, also known as hemophilia C, is a rare genetic bleeding disorder caused by changes in a gene on chromosome 4. Individuals with factor XI deficiency do not produce high enough levels of a protein called factor XI that helps form a clot to stop bleeding in response to an injury. People who lack this protein often bleed longer than others and require medicine to stop bleeding. The severity of factor XI deficiency varies between individuals. Most people with factor XI deficiency only have more significant bleeding problems after surgery, trauma, or dental procedures. Bleeding due to this deficiency is difficult to predict and tends to not be very consistent. Therefore, making management for this condition difficult.

DDAVP is a synthetic hormone that can be used in some patients with certain types of bleeding disorders. It is most effective in the treatment of bleeding disorders such as mild hemophilia A and von Willebrand disease. Both of these conditions lack a different protein called factor VIII. What this medication does is it causes the body to release any stored factor VIII and its carrier protein in order to form a clot. This can be used during minor bleeds in order to stop bleeding. However, not all people with factor XI deficiency will respond to DDAVP, meaning some people’s bodies may not release any factor VIII at all when they take DDAVP. Your doctor can do a test to determine if DDAVP treatment works for you or your child.

Amicar is an oral medication that works to prevent your body from breaking down the clots that your body forms as quickly as it might normally. Some people with factor XI deficiency use Amicar after dental care or mouth bleeding.

A medical alert bracelet can have your name, disease type and treatment for bleeds in factor XI deficiency. It is a great tool for an emergency situation.

A DDAVP infusion trial challenge for factor XI deficiency is a test that your doctor may do to determine if DDAVP treatment works for you or your child. The procedure involves your doctor measuring how much FVIII (a clotting factor) is in your blood before you take DDAVP and after you take DDAVP. If the amount in your blood increases after you take DDAVP, that means that this medication works for you and you can use it to treat minor bruises and bleeds.

Any serious injury or suspected bleeding in the head, eye, neck or throat, lower back, stomach, hip or groin area should be seen by emergency medical care immediately if you have factor XI deficiency. A bleed in one of these areas may be life threatening.

Side effects may include headaches, flushing, changes in blood pressure as well as nausea. It is important for people with factor XI deficiency who take DDAVP to monitor and limit their fluids for 24 hours after taking the medication. DDAVP causes the body to hold onto their water, so it can be dangerous for you to drink too much liquid after taking DDAVP. Since DDAVP is synthetic, there aren’t any risks for disease related to the medication.

The symptoms of factor XI deficiency vary between individuals. Unfortunately, the levels of the factor XI protein in your blood can not predict if you will have a lot of bleeding problems or none at all. Symptoms may include mild but uncontrolled bleeding from small injuries, unexplained severe bruises, long and severe nosebleeds without injury. This bleeding tends to be more severe after dental procedures, surgery, injury, or childbirth.

Some people with a factor XI deficiency are treated with antifibrinolytics. These drugs slow down the body’s natural process of destroying clotting factors in the blood. These drugs include aminocaproic acid and tranexamic acid. They are especially helpful in treatment for dental procedures, bleeding in the mouth, and menstrual periods.

It is recommended by the Centers for Disease Control (CDC) for all children, including children with factor XI deficiency, to receive immunizations. Talk to your hematologist for their recommendations for treatment for vaccinations. Your child may need clotting factor treatment before some immunizations to prevent bleeding or bruising. Apply an icepack for five minutes before and after vaccination.

People with factor XI can develop inhibitors against factor XI deficiency. Factor XI screening regularly checks for this. The inhibitors are antibodies made by the body’s protective system. These inhibitors react to the factor XI as if it is not supposed to be there, and then destroy that factor XI. They are more common in those with a severe type of factor XI deficiency or a family history of inhibitors. People who have factor XI deficiency and inhibitors require special medications.

Children with factor XI deficiency may need extra protection. As they get older, they become more active and may be more prone to injuries. There are things that you can do to reduce the chance of injury as much as possible. You can try protecting toddlers by having them wear safety pads, such as kneepads, elbow pads, hand pads and protective helmets when they are active. Using safety belts when your toddler is in a highchair, a car seat, or a stroller in order to protect them from falling. Make sure your furniture does not have any sharp corners, or pad them to protect your child from bumping into them. Keep sharp objects away and make sure to check play areas for potential hazards.

In addition to your child’s healthcare providers, you may want to tell the school nurse, the physical education teacher, and other teachers at your child’s school and possibly your child’s friends’ parents.

Some people with a factor XI deficiency may feel week or tired all of the time. Often this may not be specifically due to the condition, but rather a health problem that happens when you bleed a lot. If you bleed a lot, you may experience a health problem called anemia. This happens a lot in women who have heavy menstrual periods. Anemia can cause you to feel week and make it more difficult for you to exercise. Talk to your doctor if you think you may have anemia.

There is no cure for factor XI deficiency as far as we are aware of as of January 28, 2016. There are a number of different medications for treatment for factor XI deficiency to stop active bleeding. Treatment may be difficult due to the unpredictable nature of the condition. Talk to your doctor or a hemophilia treatment center about what treatment is best for you. Treatment may include fresh frozen plasma factor XI concentrates, synthetic factor XI concentrates, and antifibrinolytics. Most people do not require a regular prophylactic (preventative) treatment regimen, and may only need to take treatment before major surgeries.

Newborn screening is not currently being performed for factor XI deficiency as of January 28, 2016.

As of March 2016, there are 2 clinical trials in the U.S. recruiting people with factor XI deficiency. If you would like more information, ask your doctor or check the www.clinicaltrials.gov website.

It is important for people with a factor XI deficiency to maintain a healthy diet. People with bleeding disorders are at higher risk for obesity. There are a few nutritional additions to your diet that may be helpful. People with bleeding disorders should maintain their blood volume and blood cell production. Nutrients such as iron, protein, copper, vitamin C, vitamin B12, vitamin B6 and folic acid can help in maintaining these processes. People with bleeding disorders should avoid excess vitamin E since that may increase the risk of bleeding. Maintaining your iron levels is especially important so that you do not become anemic.

There is a difference between being a carrier of factor XI deficiency and being diagnosed with the condition. People who are carriers of factor XI deficiency have one working copy of the gene and one non-working copy. We only need one working copy in order for our body’s clotting system to work properly; therefore carriers are not affected. People who are diagnosed with factor XI deficiency have two non-working copies of the gene.

It is possible to test a pregnancy for factor XI deficiency by amniocentesis or chorionic villus sampling (CVS). CVS is typically done from 9-12 weeks of pregnancy and amniocentesis is performed after 15-16 weeks. With an amniocentesis, a physician uses a needle guided by ultrasound to find a pocket of fluid away from the baby to collect the amniotic fluid. That fluid contains cells that have sloughed off of the baby. With CVS, a thin tube or needle is inserted to reach the placenta and small samples of the placenta are removed. With both tests, genetic testing is performed to determine whether changes in the F11 gene that could cause disease are present. Looking at the genetic information in these cells will allow the laboratory to determine if the pregnancy has factor XI deficiency or not. Genetic testing in a pregnancy typically requires that the two changes in the F11 gene that the parents carry have been previously identified.

If you would like to do testing while you are pregnant, you should ideally talk to your doctor when you are considering a pregnancy or as soon as you know you are pregnant. Your doctor or a genetic counselor can discuss your risks to have a child with factor XI deficiency and what testing that can be done.

Certain exercises may be unsafe for people with factor XI deficiency who have significant bleeding problems. Activities such as football, hockey, wrestling, and soccer are high impact sports and are less safe for people with factor XI deficiency. Instead, talk to your doctor about exercises that may be better for your health. Swimming, walking, biking and golf are lower impact exercises that are recommended for people with bleeding disorders.

Any type of product made from human blood has the potential to have viruses, and other unwanted proteins. However, the drug companies that develop these treatments use several methods to treat the plasma-derived concentrates in order to decrease the chance of this. Talk to your doctor about which treatment is best for you or your child.

Factor XI deficiency has no cure as of January 28, 2016. However, if you notice a lot of bleeding or bruising problems, talk to your doctor about a treatment regimen that may help manage your condition. Treatment includes factor replacement therapy and other medicines such as antifibrinolytics that can decrease the extent of bleeding.

Easy bruising is a common symptom of factor XI deficiency. Bruising is a small amount of bleeding under the skin. Bruises may appear to be many colors and may have a small knot felt in the middle of the bruise. Treatment with clotting factor is not usually needed for bruising. The best thing to do is to ice the bruise.

Joint bleeds do not usually happen in people with a factor XI deficiency. Sometimes they may occur if you also have joint disease, or if you have a severe form of factor XI deficiency. Talk to your doctor if you’re having joint pain and he or she can do some tests to determine the cause.

Women with bleeding disorders are at a higher risk to have ovarian cysts as well as pain and heavy bleeding with ovulation. Between 2 and 25% of women with bleeding disorders have ovarian cysts. Talk to your gynecologist if you are worried about your risk for ovarian cysts. They may recommend that you take medications like birth control pills, tranexamic acid or DDAVP.

When you are pregnant, the amount of factor XI in your blood does not change very much throughout pregnancy. However, you should talk to a high risk OB who can help monitor you during your pregnancy. You should also consult a hematologist who can help set up a personalized treatment plan for pregnancy, labor, delivery and the post-partum period.

Treatment for factor XI deficiency can be given at home. If you have factor XI deficiency and are injured, you should go seek help if the treatment does not resolve the injury. You should seek emergency medical care if you have any injuries to your head.

If you have factor XI deficiency and are or are planning to become pregnant, you should talk to your doctor or a genetic counselor. They can help you determine risks of passing on your non-working copies of the FXI gene. If you do have a FXI deficiency, you have two non-working copies of the FXI gene. You will pass on one copy to your baby and your partner will pass on one of his copies. The baby only needs one working copy of the FXI gene have a normal amount of FXI in his blood. Talk to a genetic counselor to discuss testing your partner for carrier status of the FXI gene to determine risks for your baby.

Women who have factor XI deficiency also have a higher rate of complications during pregnancy and childbirth. Pregnant women will need fresh frozen plasma if cesarean delivery is planned and other preventive treatments may be considered during labor and delivery. This should be managed with a specialist in high-risk pregnancy.

Some women with factor XI deficiency may have heavy periods. Birth control pills can help alleviate some or all of that bleeding. If you feel like your periods aren’t being managed well with your current medication, talk to your gynecologist about pursuing a different medication that may be more suited for you.

Factor XI deficiency occurs with different frequencies in different populations. Worldwide, one in eight individuals with Ashkenazi Jewish ancestry are thought to be carriers of factor XI deficiency and between 1 in 190 and 1 in 450 Ashkenazi Jews have a severe bleeding problem related to factor XI deficiency. Approximately 8% of Ashkenazi Jewish individuals in Israel have factor XI deficiency. Other groups at greater risk for carrying mutations that cause factor XI deficiency are Iraqi Jews, Sephardic Jews, and people of Arab background living in Israel. Among non-Jews in the United States, only 1 in 1,000,000 have factor XI deficiency, making it very rare.

There are a number of different blood tests that your doctor can perform to determine if you or your child has a factor XI deficiency. If they suspect factor XI deficiency, they will start by ordering a test series to look at how well the blood clots, called a coagulation study. This will help to point to whether or not there is a bleeding disorder, and if so, what type. These tests include a prothrombin time, bleeding time, activated partial thromboplastin time, and a factor XI assay. Depending on those results, genetic testing may be recommended to confirm the diagnosis. If you already know someone in your family has factor XI deficiency that has been confirmed through genetic testing, you can have genetic testing to see if you have those same changes in the F11 gene.

Factor XI deficiency is inherited in an autosomal recessive manner. This means that two non-working or mutated genes are needed for someone to have the condition. Parents of an affected child each have one mutated gene for the disorder and are referred to as carriers. Carriers are mostly asymptomatic but when two carriers have a child, there is a 1/4 or 25% risk that the child will have factor XI deficiency.

Often the first sign of factor XI deficiency is bleeding after circumcision for males or long and heavy periods in girls. You may also notice easy bruising or longer bleeding after tooth extractions or minor injuries. If your child has easy bruising or easy bleeding, talk to your doctor about testing for bleeding disorders. If your child has severe bleeding that won’t stop, seek emergency medical care.

Clinicaltrials.gov is an international database of current clinical trials.

Hemophilia treatment centers can be very helpful in the treatment of factor XI deficiency and can be found all around the country. Experts in the treatment of hemophilia can provide education and support about hemophilia for you and your family. They can also provide your doctor with information for your treatment. To find a treatment center near you, visit the Federal Government’s nationwide network at http://www.cdc.gov/ncbddd/hemophilia/HTC.html.

Our bodies are comprised of cells and in every cell are the chromosomes. The normal number of chromosomes is 46 and the chromosomes are comprised of genes that determine a person’s genetic make-up. Factor XI deficiency is caused by changes in the F11 gene on the chromosome 4. Factor XI deficiency is inherited as an autosomal recessive disorder. This means people with factor XI deficiency have genetic changes on both copies of their F11 gene. If you have a child with factor XI deficiency, that means both you and your partner are "carriers" of a single genetic change that can cause factor XI deficiency. Carriers do not have factor XI deficiency themselves, but can have children with the condition if both parents pass the genetic changes on to their children. When two carriers of factor XI deficiency have children, there is a 1 in 4, or 25% chance for each pregnancy to have factor XI deficiency, and a 3 in 4, or 75% chance the child will not have factor XI deficiency.

The first precaution you can take if you have a factor XI deficiency is to be cautious. Most bleeds occur due to trauma, so try to avoid situations in which trauma may occur. You can also talk to your hematologist about being prescribed DDAVP. You can take this medication before you have surgery or if you have any minor bleeds. Tranxemic acid can also be taken before you begin your period to decrease the amount you’ll bleed.

Most people with factor XI deficiency do not have any severe bleeds. They may have major bleeding after trauma or surgeries or experience more frequent and longer nosebleeds. People with factor XI deficiency also may experience easy bruising. Women may experience heavy bleeding during their menstrual cycles. Most people with factor XI deficiency do not have any problems with bleeding into their joints unless they have an injury or having spontaneous bleeding. There have been no reports of bleeding into the stomach or gut, and only rare reports of bleeding into the urine.

Certain medications, physical inactivity, and certain physical activities can make the symptoms of factor XI deficiency worse. Nonsteroidal anti-inflammatory drugs (NSAIDs), such as aspirin, naproxen and ibuprofen, can increase the risk for bleeding and should generally be avoided. It is important to remain physically active in order to strengthen joints, keep flexible muscles, and maintain a healthy weight.

Prophylactic therapy is therapy that is given before bleeding events occur for prevention. Most people with a factor XI deficiency do not need to take treatment prophylactically or before a bleed to prevent bleeding. If you have a severe form, you may need to have this type of treatment to boost the amount of FXI in your blood to prevent a spontaneous bleed from occurring. Talk to your hematologist if you feel like you may benefit from prophylactic treatment.

Women who have heavy periods due to their factor XI deficiency may want to talk to their gynecologist about taking hormone therapy as either birth control pills or IUDs. Hormone therapy may help decrease your heavy bleeding during your periods.

Treatment for factor XI deficiency can be given in an outpatient clinic setting, at an emergency room or at home. Receiving treatment at home can make you or your child’s bleeding disorder feel more normal as well as decrease trips to the hospital. Talk to your doctor about whether or not home treatment is right for your family.

Most cases of factor XI deficiency are inherited through inheriting one change in the F11 gene from your mother and one from your father so that you have two non-working copies of that gene. However, sometimes factor XI deficiency can develop as a result of the development of antibodies. It is very rare for someone to acquire factor XI deficiency. But when they do, their body attacks and destroys any factor XI protein that it makes, therefore they can have lower levels of the factor XI protein in their blood. Factor XI deficiency can also be associated with Noonan syndrome, which is another genetic disorder.

Factor XI deficiency is also known as hemophilia C, to distinguish it from the more common types of hemophilia, hemophilia A and B. Hemophilia A and B are much more common than hemophilia C and have similar but more severe symptoms than hemophilia C. They are also due to different changes in different genes and result in different protein deficiencies. Factor XI deficiency is also known as plasma thromboplastin antecedent deficiency named because of it’s role in the process of blood forming a clot. It is also known as Rosenthal syndrome, because of the doctor who discovered it.

There are a lot of good support groups for people with factor XI deficiency. The bleeding disorder community with Facebook support groups including Our Hemophilia Community can be helpful. There are also specific Factor XI deficiency support groups. You can go to this website to find a specific Factor XI deficiency support group: https://www.facebook.com/walkfactor11in/. There are also websites that provide helpful information on factor XI deficiency such as: https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-XI; and http://www.wfh.org/en/page.aspx?pid=660.

There are a lot of summer camps for children with factor XI deficiency where they can meet other kids with bleeding disorders and have fun. Camp Wannaklot is a week-long summer camp for children with bleeding disorders in Georgia.