Factor Xi Deficiency
Disease Details
Family Health Simplified
- Description
- Factor XI deficiency, also known as hemophilia C, is a rare genetic bleeding disorder characterized by the deficiency of factor XI, a protein essential for blood clotting, leading to prolonged or excessive bleeding.
- Type
- Factor XI deficiency is a type of bleeding disorder. It follows an autosomal recessive pattern of genetic transmission.
- Signs And Symptoms
- In terms of the signs/symptoms of haemophilia C, unlike individuals with Haemophilia A and B, people affected by it are not ones to bleed spontaneously. In these cases, haemorrhages tend to happen after a major surgery or injury. However, people affected with haemophilia C might experience symptoms closely related to those of other forms of haemophilia such as the following:
- Prognosis
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Factor XI deficiency, also known as hemophilia C, generally has a good prognosis with appropriate management. The severity of bleeding varies widely among individuals, with many experiencing mild symptoms. Bleeding is often less severe compared to other hemophilias.
Management typically involves preventative measures and treatments such as antifibrinolytic agents or fresh frozen plasma during surgical procedures. Regular medical follow-up is recommended to prevent complications. - Onset
- Factor XI deficiency, also known as hemophilia C, can present with variable onset depending on the severity of the deficiency. It is usually diagnosed in childhood or early adulthood. The condition may be discovered after unusual bleeding following surgery or injury, or through routine blood tests. It can be inherited or acquired later in life.
- Prevalence
- The prevalence of Factor XI deficiency varies significantly by population. It is especially higher among Ashkenazi Jews, where the prevalence of severe Factor XI deficiency is about 1 in 450 individuals. In the general population, the prevalence is estimated to be between 1 in 500,000 to 1 in 1,000,000, making it a very rare disorder.
- Epidemiology
- Factor XI deficiency, also known as hemophilia C, is a rare bleeding disorder. Its prevalence varies significantly among different populations. It is most commonly observed in people of Ashkenazi Jewish descent, with an incidence of approximately 1 in 450 individuals. In the general population, the incidence is much lower, estimated at around 1 in 1 million. Both sexes are affected equally by the disorder.
- Intractability
- Factor XI deficiency, also known as hemophilia C, is not considered intractable. It is a rare bleeding disorder that can be managed with appropriate medical treatment. Treatment options may include fresh frozen plasma or factor XI concentrates to manage bleeding episodes. Regular monitoring and individualized care plans help manage the condition effectively. While it is a lifelong condition, with proper management, individuals can lead relatively normal lives.
- Disease Severity
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Factor XI deficiency, also known as Hemophilia C, can vary in disease severity.
**Disease Severity:**
- The severity of bleeding in individuals with Factor XI deficiency is not as well-correlated with Factor XI levels as it is with other types of hemophilia.
- People with severe Factor XI deficiency (very low or undetectable levels of Factor XI) can experience prolonged bleeding after surgery or trauma, but spontaneous bleeding is rare.
- Mild to moderate deficiency might only be discovered during surgery or dental procedures when unexplained bleeding occurs.
- Unlike Hemophilia A and B, Factor XI deficiency rarely leads to joint or muscle bleeding.
**Nan:**
- In this context, "nan" could imply there is no straightforward numerical association between Factor XI levels and the severity of symptoms.
Diagnosis and management often require a nuanced approach, taking into account individual bleeding history and the type of surgery or trauma anticipated. - Healthcare Professionals
- Disease Ontology ID - DOID:2229
- Pathophysiology
- Factor XI deficiency, also known as hemophilia C, is a rare bleeding disorder characterized by insufficient levels or activity of factor XI, a protein involved in the blood clotting cascade. This deficiency impairs the intrinsic pathway of coagulation, leading to prolonged bleeding, especially after trauma or surgery. The severity of bleeding is typically less than in hemophilia A or B. Factor XI deficiency is often inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. It is more common among individuals of Ashkenazi Jewish descent. Treatment may include fresh frozen plasma or factor XI concentrate to control bleeding episodes.
- Carrier Status
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For Factor XI deficiency, also known as Hemophilia C:
- **Carrier Status**: The condition is inherited in an autosomal recessive manner. This means that carriers, who have only one copy of the mutated gene, typically do not exhibit symptoms but can pass the gene to their offspring.
- **NAN**: If you meant "Not Applicable", this does not seem to apply directly to the condition itself. If you have a specific question or context regarding NAN, please provide further details. - Mechanism
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Factor XI deficiency, also known as hemophilia C, is a rare genetic bleeding disorder. The primary mechanism involves a deficiency or dysfunction of factor XI, a protein essential for the proper functioning of the intrinsic pathway of the blood coagulation cascade.
On the molecular level, factor XI is a plasma glycoprotein produced in the liver, and it circulates in the blood as a zymogen (inactive enzyme precursor). Activation of factor XI typically occurs through the action of factor XIIa or thrombin, which converts it to its active form, factor XIa. Active factor XIa then catalyzes the activation of factor IX to factor IXa, which, in turn, plays a crucial role in the activation of factor X to factor Xa, leading to the formation of a fibrin clot.
In factor XI deficiency, various mutations in the F11 gene, which encodes the factor XI protein, result in either insufficient production or the production of a dysfunctional protein. These mutations can be frameshift, missense, nonsense, or splice site mutations, which can impair factor XI synthesis, secretion, or function.
Due to this deficiency, individuals with factor XI deficiency experience a weak clotting response, leading to a bleeding tendency, although the clinical severity can vary widely among affected individuals. Unlike hemophilia A and B, which primarily affect males, factor XI deficiency can affect both males and females since it is not sex-linked and follows an autosomal recessive inheritance pattern. - Treatment
- In terms of haemophilia C medication tranexamic acid is often used for both treatment after an incident of bleeding and as a preventive measure to avoid excessive bleeding during oral surgery.Treatment is usually not necessary, except in relation to operations, leading to many of those having the condition not being aware of it. In these cases, fresh frozen plasma or recombinant factor XI may be used, but only if necessary.Those affected may often develop nosebleeds, while females can experience unusual menstrual bleeding which can be avoided by taking birth control such as: IUDs and oral or injected contraceptives to increase coagulation ability by adjusting hormones to levels similar to pregnancy.
- Compassionate Use Treatment
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For Factor XI deficiency, also known as hemophilia C, compassionate use treatments or experimental treatments can include:
1. **Recombinant Factor XI Concentrate**: Not widely available and typically considered experimental, this treatment aims to replace the missing or deficient Factor XI.
2. **Fresh Frozen Plasma (FFP)**: Contains all coagulation factors, including Factor XI. It’s used in emergencies or severe cases when other treatments are not available.
3. **Tranexamic Acid**: An antifibrinolytic agent that can help reduce bleeding episodes by preventing the breakdown of blood clots.
4. **Amino Caproic Acid**: Similar to tranexamic acid, it helps prevent excessive bleeding by stabilizing clots.
5. **Gene Therapy**: Still in the experimental phase, this approach aims to correct the underlying genetic defect responsible for Factor XI deficiency.
These treatments usually require careful monitoring and are typically administered under the guidance of a hematologist. - Lifestyle Recommendations
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Lifestyle recommendations for Factor XI deficiency include:
1. **Avoid Trauma:** Protect yourself from injuries, as even minor trauma can lead to significant bleeding.
2. **Exercise Caution with Activities:** Engage in low-impact, non-contact sports. Activities like swimming, walking, and yoga are preferable.
3. **Proper Dental Care:** Maintain good oral hygiene to prevent gum bleeding; inform your dentist about your condition prior to procedures.
4. **Medic Alert Identification:** Wear a medical ID bracelet indicating your bleeding disorder for emergencies.
5. **Medication Awareness:** Consult with healthcare providers before taking new medications, particularly those that affect blood clotting, like aspirin or NSAIDs.
6. **Follow Medical Advice:** Regular follow-ups with your hematologist and adherence to their recommendations are crucial.
These measures help manage the condition and reduce bleeding risks. - Medication
- For Factor XI deficiency, treatment might involve the use of fresh frozen plasma or Factor XI concentrate during bleeding episodes or surgical procedures. Antifibrinolytic agents such as tranexamic acid or aminocaproic acid may also be used to help prevent bleeding. Routine prophylactic treatment is typically not necessary unless there's a significant risk of bleeding.
- Repurposable Drugs
- For Factor XI deficiency, there isn't a well-established list of repurposable drugs specifically indicated for this condition. Treatment typically involves fresh frozen plasma or Factor XI concentrate. Some antifibrinolytic agents (like tranexamic acid) may also be used to reduce bleeding risk in certain situations, though these are not repurposed drugs in the strictest sense for this condition. Always consult medical professionals for the most appropriate and up-to-date treatments.
- Metabolites
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Factor XI deficiency, also known as hemophilia C, is a rare genetic disorder that affects the blood's ability to clot properly. It is primarily caused by a deficiency of Factor XI, a protein involved in the coagulation cascade.
While specific metabolites directly associated with Factor XI deficiency are not typically the primary focus of diagnosis or management, it's important to understand that diagnostic evaluations often include measuring the activity levels of Factor XI and examining abnormalities in other coagulation factors or pathways that can affect clotting.
In clinical settings, blood tests such as activated partial thromboplastin time (aPTT) may be prolonged, indicating a clotting issue. Factor XI levels are directly measured to diagnose the deficiency. Other routine metabolic panels are generally normal unless other underlying conditions coexist.
Given this is a genetic disorder, there are no specific metabolites identified for therapeutic targeting or monitoring exclusive to this condition. The treatment often involves using plasma or recombinant Factor XI concentrates during bleeding episodes or prophylactically before surgical procedures. - Nutraceuticals
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Factor XI deficiency, also known as Hemophilia C, is a rare bleeding disorder that typically requires medical management rather than nutraceuticals. Currently, there are no specific nutraceuticals proven to manage or treat Factor XI deficiency effectively.
Management of this condition usually involves:
- Fresh frozen plasma (FFP) or factor XI concentrate during surgeries or after significant bleeding episodes.
- Antifibrinolytic agents such as tranexamic acid to help reduce bleeding.
- Regular monitoring by a hematologist.
It is essential to consult with a healthcare provider for personalized medical advice and treatment options for Factor XI deficiency. - Peptides
- Factor XI deficiency, also known as hemophilia C, is a rare blood disorder characterized by the lack or dysfunction of factor XI, a protein essential for blood clotting. Individuals with this deficiency are at risk for prolonged or excessive bleeding after injury or surgery. Symptoms can include easy bruising, nosebleeds, and prolonged bleeding following trauma or surgery. It is inherited in an autosomal recessive pattern and can be diagnosed through blood tests that measure factor XI activity. Treatment may involve factor XI replacement therapy or antifibrinolytic agents to manage bleeding episodes.