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Hemophilia C is a rare bleeding disorder that affects men and women in equal numbers, according to Medscape. It’s also known as Rosenthal syndrome and factor XI (FXI) deficiency. (XI is the Roman numeral for 11.)
Hemophilia C tends to be milder than hemophilia A or B. It may not require any treatment unless you’re having surgery or a dental procedure or have sustained an injury that causes bleeding.
Read on to find out more about symptoms of hemophilia C and how it’s inherited, diagnosed, and treated.
Hemophilia C is a rare type of hemophilia that affects as many as 1 in every 10,000 to 20,000 people in the general population, according to one review.
This number suggests that the condition is much more common than many older studies showed, which typically focused on how common it was in the United States, specifically, at about 1 in every 100,000 people.
Some of the difference in the prevalence (how common a condition is) of hemophilia C could be related to the fact that there isn’t a consistent definition of factor XI deficiency. There are also no guidelines for systematic testing. Also, mild cases of hemophilia C may be underdiagnosed because people with the condition don’t always require treatment.
Hemophilia C can affect people of any age and from any race or ethnic group. It’s especially common among people of Ashkenazi Jewish descent.
Hemophilia C is different from hemophilia A and B in several important ways, including which clotting factor is missing, how it’s passed down, and who it affects.
People with hemophilia C usually have a mild bleeding tendency, and the condition does not typically cause spontaneous bleeding. Instead, bleeding problems are most likely to occur after trauma, surgery, or dental procedures.
People with hemophilia C tend to bleed from mucous membranes, the moist lining of the mouth, nose, and digestive tract. Frequent or prolonged nosebleeds are a possible symptom. Serious bleeding can also occur in some cases.
Bleeding is often more pronounced after procedures involving areas with high fibrinolytic activity (where the body breaks down blood clots more quickly), such as the mouth, nose, and genitourinary tract (the urinary and reproductive systems). After surgery, some people may develop painful or swollen bruises called hematomas (collections of blood outside blood vessels).
Babies with hemophilia C who undergo circumcision may also experience excessive bleeding.
If left untreated, bleeding may continue for several hours and lead to anemia (low levels of red blood cells).
Symptoms of serious bleeding that need immediate medical attention include:
Women with hemophilia C may experience specific symptoms, according to the Canadian Hemophilia Society. These include:
Hemophilia C is caused by low levels of a blood clotting factor called factor XI. Factor XI is a protein that helps the body form blood clots to stop bleeding. It plays a role in creating fibrin, a protein that traps platelets and holds the blood clot in place. With low levels of factor XI, your body has a harder time stopping bleeding.
Hemophilia C is usually inherited through changes (mutations) in the F11 gene. A person may inherit one changed copy of the F11 gene (heterozygous) from one parent or two changed copies, one from each parent (homozygous). People with one or two changed copies can have bleeding symptoms, though symptoms vary widely.
A genetic counselor can help you understand the risk of inheriting hemophilia C as well as the risk of passing it on to your children.
Rarely, acquired hemophilia C can occur with conditions such as Noonan syndrome or systemic lupus erythematosus (SLE), the most common form of lupus.
People with hemophilia C are usually diagnosed as adults after an episode of uncontrolled bleeding or during normal testing before a scheduled surgery. However, people with a family history of hemophilia C may be diagnosed before birth.
Your healthcare provider can diagnose hemophilia C based on your symptoms, family history, and test results.
Blood tests that can help confirm a hemophilia C diagnosis may include:
The results of coagulation tests may be abnormal in people with hemophilia C. Most people with hemophilia C have a normal PT but a prolonged aPTT. This means that it takes a longer time than normal for blood in the sample to clot.
A factor XI assay can measure the activity of factor XI in your blood. People with hemophilia C typically have reduced factor XI activity. However, factor XI levels do not always predict how severe a person’s bleeding symptoms will be.
People with hemophilia C usually have mild symptoms that often don’t cause serious medical problems. Bleeding with hemophilia C usually doesn’t affect the joints or muscles as it can in people with hemophilia A or B.
The severity of hemophilia C doesn’t always match the levels of factor XI found in the blood. Someone with very low levels of factor XI may not have any symptoms. Additionally, people with normal factor XI levels may report bleeding symptoms.
Treatment for hemophilia C is sometimes difficult because the bleeding tendency can be unpredictable. A referral to a hemophilia treatment center may be beneficial for people with hemophilia C.
You may not need treatment for hemophilia C unless you have surgery or get injured. If you do need treatment, there are a few options available.
Fresh frozen plasma (FFP) is a blood product made from donated blood. It contains clotting factors, including factor XI. However, factor XI isn’t concentrated in FFP, so you may need to receive a large volume of it.
FFP is given intravenously (directly into a vein). Possible side effects include an allergic reaction. The risk of infection is very low because donated blood products are carefully screened.
Another blood product, called factor XI concentrate, can overcome the need for large amounts of FFP and typically has shorter infusion times. However, this treatment option isn’t available in the United States, though it is available in some European countries.
Factor XI concentrate may increase the risk of thrombosis (blood clots), especially in people who already have risk factors for blood clots.
Low-dose recombinant factor VIIa may also be used in some cases.
Antifibrinolytics are drugs that help keep blood clots from breaking down too quickly. Examples of antifibrinolytics include aminocaproic acid (Amicar) and tranexamic acid (Cyklokapron). These drugs are often used to prevent bleeding during dental procedures or to stop nosebleeds. Antifibrinolytics can also help treat excessive menstrual bleeding.
These drugs come as pills that you take orally (by mouth) or a solution that’s administered intravenously. Antifibrinolytics are usually well tolerated, but side effects can occur. Possible side effects may include:
Hormonal contraceptives — also called birth control — can help to make periods more regular and reduce bleeding. Hormonal contraceptives come in several forms, including pills, injections, and intrauterine devices (IUDs).
One supportive measure that is especially helpful during dental procedures and circumcision is the use of fibrin glue. This is a freeze-dried concentrate of clotting factors that can be applied locally at the site of bleeding.
You can’t prevent hemophilia C because, in most cases, it’s a genetic condition that’s inherited from one or both parents. If you have hemophilia C and want to start a family, genetic counseling is available at many hemophilia treatment centers.
On MyHemophiliaTeam, people share their experiences with hemophilia, get advice, and find support from others who understand.
If you’ve been diagnosed with hemophilia C, how do you manage the condition? Let others know in the comments below.
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