Hemophilia C: Symptoms, Causes, Treatment

What are the symptoms of hemophilia C?

Hemophilia C, also known as Factor XI deficiency, is a rare bleeding disorder characterized by a deficiency in clotting factor XI. The symptoms of hemophilia C can vary widely and are often milder than those seen in hemophilia A and B. Common symptoms include:

1. Prolonged bleeding: Individuals with hemophilia C may experience prolonged bleeding after surgery, dental procedures, or injuries.
2. Frequent nosebleeds: Nosebleeds that are difficult to stop and occur more frequently than usual.
3. Easy bruising: Bruising that occurs easily and often, even from minor bumps or without an obvious cause.
4. Menorrhagia: Women with hemophilia C may experience heavy or prolonged menstrual periods.
5. Postpartum bleeding: Increased bleeding can occur after childbirth.
6. Bleeding after trauma or surgery: Prolonged or excessive bleeding can occur following trauma or surgical procedures, even minor ones.
7. Bleeding in the gastrointestinal or urinary tracts: This can result in blood in the urine (hematuria) or stool.
8. Joint and muscle bleeding: Though less common in hemophilia C, bleeding into joints (hemarthrosis) and muscles can occur, leading to pain and swelling.

Unlike hemophilia A and B, spontaneous bleeding into joints and muscles is less common in hemophilia C, and many individuals with this condition may not experience significant bleeding symptoms. The severity of symptoms can vary, with some people experiencing minimal issues and others having more significant bleeding problems, particularly after surgery or injury.

What are the causes of hemophilia C?

Hemophilia C, also known as Factor XI deficiency, is primarily caused by mutations in the F11 gene, which provides instructions for making clotting factor XI. This factor is crucial for the blood clotting process. Here are the main causes and factors associated with hemophilia C:

1. Genetic mutations: Mutations in the F11 gene lead to reduced levels or dysfunctional forms of factor XI, impairing the blood clotting process. The specific type and location of the mutation can affect the severity of the deficiency.
2. Inheritance pattern: Hemophilia C is inherited in an autosomal recessive manner, meaning that both copies of the F11 gene (one from each parent) must be mutated for an individual to have the disorder. This contrasts with the X-linked recessive inheritance of hemophilia A and B. Both males and females can be equally affected by hemophilia C.
3. Ethnic prevalence: Hemophilia C is more common in certain populations, particularly Ashkenazi Jews, where the prevalence of the F11 gene mutation is higher. However, it can occur in individuals of any ethnic background.
4. Spontaneous mutations: In some cases, hemophilia C can result from new (de novo) mutations in the F11 gene, meaning there is no family history of the disorder.

Understanding the genetic basis of hemophilia C is crucial for diagnosis, genetic counseling, and planning appropriate management strategies. Genetic testing can confirm the specific mutation responsible for hemophilia C and help guide treatment decisions and family planning.

How is the diagnosis of hemophilia C made?

Diagnosing hemophilia C, or Factor XI deficiency, involves several steps to assess clotting factor levels and confirm the genetic mutation:

1. Medical history and physical examination: The doctor will review the patient’s medical history, including any family history of bleeding disorders, and conduct a physical exam to look for signs such as bruising, prolonged bleeding, or joint swelling.
2. Clotting factor tests: Blood tests are performed to measure the levels of clotting factor XI (FXI). Lower-than-normal levels of FXI indicate a potential clotting factor deficiency, which is characteristic of hemophilia C.
3. Bleeding time test: This test evaluates how long it takes for bleeding to stop from a small puncture wound. Prolonged bleeding time may suggest a clotting disorder, prompting further investigation.
4. Genetic testing: Genetic analysis can confirm the specific mutation in the F11 gene responsible for hemophilia C. This test is particularly useful for confirming the diagnosis, identifying carriers within the family, and informing genetic counseling.
5. Other tests: Additional tests may be conducted to assess overall clotting function and rule out other potential causes of bleeding disorders.

Diagnosis is typically made by a hematologist or a doctor specializing in blood disorders. Early diagnosis is crucial for initiating appropriate treatment and preventing complications associated with hemophilia C. Regular monitoring by healthcare providers skilled in managing hemophilia is essential to adjust treatment as needed and optimize outcomes for individuals with this condition.

What is the treatment for hemophilia C?

The treatment for hemophilia C, or Factor XI deficiency, focuses on preventing and managing bleeding episodes. Here are the primary treatment options:

1. Replacement therapy: The mainstay of treatment involves replacing the deficient clotting factor XI (FXI) through intravenous infusions. This can be administered on demand (to treat bleeding episodes) or as prophylaxis (regular infusions to prevent bleeding). Factor XI replacement products can be derived from human plasma or produced using recombinant DNA technology.
2. Clot-preserving medications: Antifibrinolytic medications, such as tranexamic acid, can help stabilize blood clots and reduce bleeding. These medications are particularly useful for mucosal bleeding (e.g., nosebleeds) or dental procedures.
3. Management of bleeding episodes: Prompt treatment with factor XI replacement therapy or antifibrinolytic medications is essential to control bleeding episodes. Depending on the severity of bleeding, additional measures such as local pressure, ice packs, or bandaging may be necessary.
4. Surgical precautions: Individuals with hemophilia C may require specialized care during surgical procedures to ensure adequate clotting factor levels are maintained. This may involve coordination with a hematologist and surgical team experienced in managing bleeding disorders.
5. Education and support: Patients and caregivers are educated about recognizing symptoms of bleeding, administering factor XI infusions (if applicable), and taking precautions to prevent injuries. Learning to administer clotting factor infusions at home can be particularly beneficial for timely treatment of bleeding episodes.

Treatment plans are tailored based on the severity of hemophilia C, individual patient needs, and the presence of complications. Regular monitoring by a hematologist or specialized healthcare provider is essential to adjust treatment as needed and optimize outcomes for individuals with hemophilia C.