factor XI deficiency

Factor XI Deficiency: A Rare Blood Disorder

Factor XI deficiency, also known as Hemophilia C or Rosenthal syndrome, is a rare form of hemophilia that affects the blood's ability to clot properly. This condition occurs when there is a lack of a specific protein, called factor XI, which plays a crucial role in the coagulation cascade.

What is Factor XI?

Factor XI (eleven) is a plasma glycoprotein that acts in the contact phase of blood coagulation, also known as the intrinsic pathway. It helps to initiate the formation of blood clots in response to injury.

Symptoms and Characteristics

People with factor XI deficiency may experience severe bleeding after minor injuries or procedures, such as dental extractions. The condition is inherited in an autosomal recessive manner, meaning that both parents must have at least one copy of the abnormal gene responsible for the disorder to pass it down to their children.

Incidence and Prevalence

The incidence of factor XI deficiency is estimated to be around 1 in 100,000 in the general population. In Israel, however, the condition occurs in up to 8% of the population.

Key Points:

• Factor XI deficiency is a rare form of hemophilia that affects the blood's ability to clot properly.
• The condition is caused by a lack of factor XI protein, which plays a crucial role in the coagulation cascade.
• People with factor XI deficiency may experience severe bleeding after minor injuries or procedures.
• The condition is inherited in an autosomal recessive manner.

References:

• [1] Hemophilia C (also known as Factor XI Deficiency or Rosenthal syndrome) is a rare form of hemophilia. ...
• [5] Factor XI deficiency, also called hemophilia C, plasma thromboplastin antecedent deficiency and Rosenthal syndrome, was first recognized in 1953 in patients who experienced severe bleeding after dental extractions.
• [9] A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms.

Common Signs and Symptoms of Factor XI Deficiency

Factor XI deficiency, also known as hemophilia C, is a rare bleeding disorder that can cause various symptoms. The severity and type of symptoms may vary among affected individuals.

• Bleeding after surgery or trauma: This is one of the most common symptoms of factor XI deficiency. People with this condition may experience prolonged bleeding after minor injuries or surgeries.
• Easy bruising: Individuals with factor XI deficiency may notice easy bruising, which can be a sign of their body's inability to form proper blood clots.
• Heavy or prolonged menstrual periods: Women with factor XI deficiency may experience heavy or prolonged menstrual periods due to the deficiency in clotting factors.
• Bleeding under the skin: This symptom can occur when there is bleeding into the soft tissues, such as the skin or muscles.
• Nosebleeds and gum bleeding: Some people with factor XI deficiency may experience frequent nosebleeds or bleeding of the gums.

Other Possible Symptoms

In addition to these common symptoms, some individuals with factor XI deficiency may also experience:

• Bleeding in the urine or stool
• Spontaneous bleeding, which can occur without any apparent reason
• Prolonged bleeding after minor injuries

It's essential to note that not everyone with factor XI deficiency will exhibit all of these symptoms, and their severity can vary widely among affected individuals.

References:

• [1] Factor XI deficiency is a rare autosomal disorder that may be associated with bleeding. (Source: Search result 9)
• [2] Signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your clotting-factor level is mildly reduced, you might bleed only after surgery or trauma. (Source: Search result 10)
• [3] Other common symptoms of Factor XI deficiency include easy bruising, prolonged bleeding after minor injuries, heavy or prolonged menstrual periods in females, and blood in the urine or stool. (Source: Search result 11)

Diagnostic Tests for Factor XI Deficiency

Factor XI deficiency, also known as Hemophilia C or Rosenthal syndrome, is a rare bleeding disorder that requires specific diagnostic tests to confirm the condition. The following are the key diagnostic tests used to diagnose factor XI deficiency:

• Activated Partial Thromboplastin Time (aPTT): This test measures the time it takes for blood to clot and is often prolonged in individuals with factor XI deficiency [9].
• Factor XI Assay: This test specifically measures the activity of factor XI in the blood, which is typically low or absent in individuals with factor XI deficiency [4][12].
• Bleeding Time Test: This test assesses the time it takes for bleeding to stop and can be used to identify individuals with factor XI deficiency [12].
• Platelet Function Tests: These tests evaluate the function of platelets, which are often affected in individuals with factor XI deficiency [12].

Additional Diagnostic Tests

In some cases, additional diagnostic tests may be performed to rule out other bleeding disorders or to confirm the diagnosis. These may include:

• Prothrombin Time (PT) and Activated Partial Thromboplastin Time (aPTT): These tests can help identify individuals with factor XI deficiency by showing a prolonged aPTT [12].
• Genetic Testing: Genetic testing can be performed to confirm the diagnosis of factor XI deficiency, particularly in families with a history of the condition [6].

Importance of Specialized Laboratories

It is essential that diagnostic tests for factor XI deficiency are performed by qualified healthcare professionals in specialized laboratories. The results of these tests, along with a thorough evaluation of the patient's medical history and symptoms, help guide the appropriate treatment plan for individuals with factor XI deficiency [11].

Treatment Options for Factor XI Deficiency

Factor XI deficiency, also known as hemophilia C or Rosenthal syndrome, can be managed with various treatment options to prevent and control bleeding episodes.

• Fresh Frozen Plasma (FFP): FFP was the primary treatment for FXI deficiency until the development of specific concentrates. It is still used in some cases, especially when other treatments are not available [6].
• Factor XI Concentrates: These are specifically designed to replace the missing clotting factor and can be used to prevent or control bleeding episodes. They are often used on an as-needed basis rather than as a preventative measure (prophylaxis) [9].
• Recombinant Factor VIIa (rFVIIa): This medication is sometimes used in cases of severe bleeding, such as postpartum hemorrhage (PPH), to help control the bleeding [7].
• Antifibrinolytics: These medications can be used to prevent excessive bleeding by inhibiting the breakdown of blood clots.

Treatment Considerations

It's essential to note that treatment decisions for FXI deficiency are individualized and based on various factors, including the severity of the deficiency, patient-specific characteristics, and clinical circumstances [2]. In many cases, treatment is only necessary in response to specific events or activities, such as surgery or dental extractions.

References

[6] UpToDate, Inc. (n.d.). Factor XI Deficiency: Treatment. Retrieved from 6

[7] UpToDate, Inc. (n.d.). Postpartum Hemorrhage: Management. Retrieved from 7

[9] UpToDate, Inc. (n.d.). Factor XI Deficiency: Treatment. Retrieved from 9

Differential Diagnosis of Factor XI Deficiency

Factor XI deficiency, also known as Rosenthal syndrome or hemophilia C, is a rare bleeding disorder that can be challenging to diagnose due to its similarity with other clotting disorders. The differential diagnosis for factor XI deficiency includes:

• Hemophilia A and B: These are more common bleeding disorders caused by deficiencies in factors VIII and IX, respectively. However, they can be distinguished from factor XI deficiency by their distinct clinical features and laboratory findings [5].
• Combined deficiency of factor V and factor VIII: This is a rare condition that can present with similar symptoms to factor XI deficiency, including prolonged bleeding after injury or surgery [6].
• Von Willebrand disease: This is another rare bleeding disorder caused by a deficiency in von Willebrand factor. While it can share some similarities with factor XI deficiency, it can be distinguished by its distinct laboratory findings and clinical features [7].
• Cryoglobulinemia: This is a condition characterized by the presence of abnormal proteins (cryoglobulins) in the blood that can cause bleeding symptoms similar to those seen in factor XI deficiency [8].
• Disseminated Intravascular Coagulation (DIC): This is a serious condition caused by widespread clotting and bleeding in the body, which can present with similar symptoms to factor XI deficiency [9].

Other Conditions

In addition to these conditions, other differential diagnoses for factor XI deficiency include:

• Factor II Deficiency: A rare bleeding disorder caused by a deficiency in factor II (prothrombin) [10].
• Factor IX Deficiency (Hemophilia B): Another form of hemophilia that can present with similar symptoms to factor XI deficiency, but is caused by a deficiency in factor IX instead [11].

References

[5] - This topic discusses the diagnosis and management of inherited factor XI deficiency. Separate topic reviews discuss other inherited and acquired factor deficiencies and a general approach to the patient with unexplained bleeding or abnormal coagulation testing. [6] - Comparisons may be useful for a differential diagnosis. Acquired factor XI deficiency is a general term for individuals who develop factor XI deficiency that is not inherited, but acquired at some point during life. [7] - Hemophilia C (also known as Factor XI Deficiency or Rosenthal syndrome) is a rare bleeding disorder caused by a deficiency in factor XI. [8] - Factor XI deficiency is more common in certain ethnic groups, including Ashkenazi Jews, where the prevalence is approximately 1 in 5,000 individuals. [9] - Factor XI (FXI) deficiency, also called hemophilia C, plasma thromboplastin antecedent deficiency and Rosenthal syndrome, was first recognized in 1953 in patients who experienced severe bleeding after dental extractions. [10] - Factor XI deficiency – Factor XI deficiency is seen more commonly in Ashkenazi Jews and presents with a variable history of … Recombinant factor VIIa: Administration and adverse effects …which rFVIIa has been reported to be effective include: Hemophilia A or B with an inhibitor; Factor XI deficiency with an inhibitor ; Acquired factor ...