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Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice.
Medical Information & Treatment Guide
Factor XI Deficiency (ICD-10: D68.1), also known as Hemophilia C, is a rare genetic bleeding disorder caused by a lack of clotting factor XI. This guide covers symptoms, diagnosis, and management.
Prevalence
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Common Drug Classes
Clinical information guide
Factor XI Deficiency, historically known as Hemophilia C or Rosenthal Syndrome, is a rare genetic bleeding disorder characterized by a shortage or malfunction of clotting factor XI (FXI). Clotting factors are specialized proteins in the blood that work in a sequence—often called the coagulation cascade—to form a stable blood clot after an injury. Factor XI plays a critical role in the 'intrinsic pathway' of this cascade, specifically contributing to the massive generation of thrombin, the enzyme that converts fibrinogen into fibrin to seal wounds.
At a cellular level, FXI is synthesized in the liver and circulates in the plasma as a zymogen (an inactive enzyme precursor). When a blood vessel is damaged, FXI is activated by thrombin or factor XIIa. In individuals with this deficiency, the body cannot produce enough functional FXI to sustain the coagulation process, leading to delayed or prolonged bleeding, particularly in tissues with high fibrinolytic (clot-dissolving) activity, such as the mouth, nose, and urinary tract.
Factor XI Deficiency is considered one of the most common rare bleeding disorders worldwide. According to the World Federation of Hemophilia (WFH, 2023), the estimated prevalence in most general populations is approximately 1 in 100,000 people. However, the condition is significantly more prevalent in specific ethnic groups. Research published in the journal Blood (2022) indicates that among individuals of Ashkenazi Jewish descent, the carrier frequency for a Factor XI mutation may be as high as 8%, with roughly 1 in 450 individuals having the severe form of the deficiency.
Unlike Hemophilia A or B, Factor XI Deficiency is typically classified by the level of factor activity in the blood rather than just clinical symptoms, as symptom severity does not always correlate perfectly with laboratory values.
For many, Factor XI Deficiency has a minimal impact on daily routines because spontaneous bleeding (bleeding without a clear cause) is rare. However, the condition requires meticulous planning for dental work, surgeries, and childbirth. Patients often carry a 'bleeding disorder' card or wear medical alert jewelry to inform first responders. In women, the condition can significantly impact quality of life due to menorrhagia (heavy menstrual bleeding), which may lead to chronic iron deficiency anemia, fatigue, and missed days of work or school.
Detailed information about Factor XI Deficiency
The first indicators of Factor XI Deficiency often go unnoticed during childhood because, unlike other forms of hemophilia, it rarely causes spontaneous bleeding into joints or muscles. The most common 'first sign' is often unexpected or prolonged bleeding following a minor surgical procedure, such as a tooth extraction or tonsillectomy. Parents may also notice that a child bruises more easily than their peers or experiences frequent, hard-to-stop nosebleeds.
Symptoms can vary widely between individuals, even among members of the same family with identical factor levels. Common manifestations include:
Answers based on medical literature
Currently, there is no cure for Factor XI Deficiency as it is a genetic condition caused by a mutation in the DNA. Treatment focuses on managing symptoms and preventing bleeding episodes during surgery or trauma rather than correcting the underlying genetic defect. While gene therapy is being researched for other types of hemophilia, it is not yet a standard clinical option for Factor XI Deficiency. Most patients live a normal lifespan by managing the condition through episodic treatment with antifibrinolytics or replacement therapies. Regular follow-ups with a hematologist ensure that the management plan remains effective throughout the patient's life.
Factor XI Deficiency is inherited in an autosomal recessive pattern, meaning a person usually needs to inherit two mutated genes—one from each parent—to have a severe deficiency. However, individuals who inherit only one mutated gene may still have a partial deficiency and experience mild bleeding symptoms. Unlike Hemophilia A and B, which are linked to the X chromosome and primarily affect males, Factor XI Deficiency affects both males and females equally. This occurs because the F11 gene is located on chromosome 4, which is not a sex-determining chromosome. Genetic counseling is often recommended for families to understand the specific risks for their children.
This page is for informational purposes only and does not replace medical advice. For treatment of Factor XI Deficiency, consult with a qualified healthcare professional.
In severe deficiency, symptoms are more likely to appear after any invasive challenge. In partial deficiency, a person may live decades without knowing they have the condition until a major accident or surgery reveals the underlying clotting defect.
> Important: Seek immediate medical attention if you experience any of the following 'red flag' symptoms:
In children, the condition is often silent until surgery. In adult women, the primary symptom is often heavy menstrual bleeding or postpartum hemorrhage (bleeding after childbirth). Men may only discover the condition during preoperative screening for procedures like a colonoscopy or hernia repair. As patients age, the use of blood thinners for cardiovascular health can complicate the symptom profile, making bleeding episodes more frequent.
Factor XI Deficiency is caused by mutations in the F11 gene, located on chromosome 4. This gene provides the instructions for producing the Factor XI protein. When the gene is mutated, the liver produces either an insufficient amount of the protein or a version of the protein that does not function correctly.
Research published in the Journal of Thrombosis and Haemostasis (2023) highlights that the condition follows an autosomal recessive inheritance pattern. This means an individual must typically inherit two mutated copies of the gene (one from each parent) to have the severe form. However, unlike Hemophilia A and B, which are X-linked and primarily affect males, Factor XI Deficiency affects males and females equally because the F11 gene is not on a sex chromosome.
Because Factor XI Deficiency is a primary genetic condition, there are no modifiable risk factors like diet or smoking that cause the disease. However, certain factors can increase the risk of bleeding in those already diagnosed, such as the use of non-steroidal anti-inflammatory drugs (NSAIDs) like aspirin or ibuprofen, which interfere with platelet function.
The highest risk group remains the Ashkenazi Jewish population. According to data from the National Organization for Rare Disorders (NORD, 2023), approximately 1 in 8 Ashkenazi Jews carries a mutation for Factor XI Deficiency. Outside of this group, the condition is rare but can occur in any ethnic population worldwide.
As a hereditary genetic disorder, Factor XI Deficiency cannot be prevented through lifestyle changes. Prevention focuses on managing the risk of bleeding complications:
The diagnostic journey often begins when a routine pre-operative blood test shows an abnormality or when a patient reports a history of unusual bleeding. Because spontaneous bleeding is rare, many cases are diagnosed incidentally.
A healthcare provider will perform a physical exam to look for signs of easy bruising or petechiae (small red spots on the skin). They will also take a detailed family history, specifically asking about bleeding complications during surgeries, dental work, or childbirth among relatives.
Diagnosis is confirmed when Factor XI activity levels are consistently below the reference range (typically <60-70%). Severe deficiency is generally defined as levels below 15-20 IU/dL, while partial deficiency ranges from 20 to 70 IU/dL.
Healthcare providers must rule out other conditions that cause similar symptoms or laboratory results, including:
The primary goals of treatment for Factor XI Deficiency are to prevent bleeding during surgery or trauma and to manage chronic bleeding symptoms like heavy menstruation. Unlike other hemophilias, most patients do not require regular 'prophylactic' (preventative) treatment and only receive therapy 'on-demand' or before invasive procedures.
According to the World Federation of Hemophilia guidelines (2022), the first-line approach depends on the severity of the deficiency and the risk of the planned procedure. For minor procedures or mucosal bleeding (mouth/nose), antifibrinolytic therapy is often the standard initial approach.
In cases where single agents are ineffective, doctors may combine antifibrinolytics with low-dose replacement therapy. In patients who develop 'inhibitors' (antibodies that neutralize Factor XI), bypassing agents—originally designed for Hemophilia A or B—may be considered under strict specialist supervision.
Treatment for surgery typically begins shortly before the procedure and may continue for 3 to 7 days afterward, depending on the healing process. Monitoring involves clinical observation for bleeding and occasionally repeating Factor XI assays.
> Important: Talk to your healthcare provider about which approach is right for you.
While no specific diet can increase Factor XI levels, nutritional support is vital for managing complications. For those with frequent bleeding (like heavy periods), an iron-rich diet is essential to prevent anemia. According to the Office of Dietary Supplements (NIH, 2023), foods like lean meats, beans, spinach, and fortified cereals help maintain healthy hemoglobin levels. Vitamin C should be consumed alongside iron-rich foods to enhance absorption.
Physical activity is encouraged to maintain cardiovascular health and muscle strength. However, individuals with severe Factor XI Deficiency should avoid high-impact contact sports (e.g., boxing, football, rugby) where the risk of head injury or internal bleeding is high. Recommended activities include swimming, cycling, and walking. Always consult a hematologist before starting a new, vigorous exercise regimen.
Adequate rest is crucial for the body's healing processes. Patients experiencing an active bleeding episode or recovering from surgery should prioritize sleep to facilitate tissue repair and reduce the risk of secondary hemorrhage due to physical exertion.
Living with a chronic bleeding disorder can cause anxiety, particularly regarding the risk of injury. Evidence-based techniques such as mindfulness-based stress reduction (MBSR) and cognitive-behavioral therapy (CBT) can help patients manage the psychological impact of the condition.
There is no evidence that herbal supplements can treat Factor XI Deficiency. In fact, many supplements like garlic, ginger, ginkgo biloba, and high-dose Vitamin E can increase bleeding risk and should be avoided. Acupuncture may be safe if performed by a practitioner aware of the bleeding disorder, using very fine needles, but should be cleared by a hematologist first.
The long-term outlook for individuals with Factor XI Deficiency is generally excellent. Unlike severe Hemophilia A or B, which can lead to debilitating joint disease, Factor XI Deficiency rarely causes spontaneous joint bleeds. Most individuals have a normal life expectancy and can lead full, active lives. According to data from the World Federation of Hemophilia (2023), with proper management during surgical and traumatic challenges, the risk of mortality is extremely low.
Management focuses on 'episodic' care. Patients should be registered with a Hemophilia Treatment Center (HTC) for expert care. Regular dental checkups are vital to prevent the need for major oral surgery. Women should have their iron levels monitored annually.
Practical steps for long-term success include wearing a medical ID bracelet, maintaining a good relationship with a hematologist, and educating family members about the hereditary nature of the condition.
Contact your hematologist if you plan to have any surgery (including dental), if you become pregnant, or if you notice a change in your bleeding patterns, such as more frequent nosebleeds or heavier periods.
Most individuals with Factor XI Deficiency can participate in a wide variety of physical activities and sports. Because spontaneous joint bleeding is rare in this condition, low-to-medium impact sports like swimming, tennis, and golf are generally considered safe. However, high-impact contact sports such as football, boxing, or hockey carry a higher risk of serious injury and internal bleeding, so they are typically discouraged for those with severe deficiency. It is important to discuss your specific factor levels with a hematologist before starting a new sport. Wearing appropriate protective gear and having a plan for managing injuries is essential for staying active safely.
Individuals with Factor XI Deficiency should generally avoid medications that interfere with blood clotting or platelet function. This includes non-steroidal anti-inflammatory drugs (NSAIDs) such as aspirin, ibuprofen (Advil, Motrin), and naproxen (Aleve), which can increase the risk of bleeding. Certain herbal supplements like ginkgo biloba, garlic, and ginger in large doses should also be avoided as they have mild blood-thinning properties. Always check with your hematologist before starting any new medication, including over-the-counter drugs or supplements. Acetaminophen (Tylenol) is typically the preferred choice for pain relief as it does not affect platelet function.
Pregnancy is generally safe for women with Factor XI Deficiency, but it requires careful coordination between a hematologist and an obstetrician. The primary risk is postpartum hemorrhage, which is excessive bleeding after delivery, particularly if Factor XI levels are very low. During labor, the use of an epidural or spinal anesthesia may be restricted if factor levels are not at a safe threshold, as there is a risk of bleeding near the spinal cord. Most women will have their Factor XI levels monitored during the third trimester to plan for a safe delivery. With a proper birth plan and access to treatment if needed, most women have successful pregnancies and healthy babies.
Factor XI Deficiency is more common in the Ashkenazi Jewish population due to what is known as a 'founder effect.' This occurs when a small group of ancestors carries a specific genetic mutation, which then becomes more prevalent as the population grows within a closed community. Research has identified two specific mutations (Type II and Type III) that account for the majority of cases in this ethnic group. Approximately 8% of Ashkenazi Jews are carriers of one of these mutations, making the condition much more frequent than in the general global population. Because of this high prevalence, many Jewish community health organizations offer genetic screening for Factor XI Deficiency.
The underlying genetic deficiency of Factor XI does not change or worsen as a person gets older; the factor activity levels remain relatively stable throughout life. However, the clinical management of the condition can become more complex with age due to the development of other health issues. For example, an older adult may develop cardiovascular disease that requires blood thinners or antiplatelet drugs, which can significantly increase the risk of bleeding in someone already deficient in Factor XI. Additionally, the need for surgeries such as hip replacements or cataract removals increases with age, requiring careful hematological planning. Regular monitoring by a specialist ensures that treatment is adjusted for these age-related changes.
In many children, there are no obvious early warning signs of Factor XI Deficiency because spontaneous bleeding is uncommon. Often, the condition is first suspected when a child experiences unusually heavy or prolonged bleeding after a common childhood procedure, such as a tonsillectomy or a tooth extraction. Some parents may notice that their child bruises very easily or has nosebleeds that are difficult to stop with standard pressure. If a child has a known family history of the condition, doctors will usually perform a blood test early in life to determine their factor levels. Early diagnosis is key to preventing complications during future injuries or surgeries.
There is currently no scientific evidence that any specific food, vitamin, or supplement can increase the production of Factor XI in the body. Factor XI is a protein produced by the liver based on genetic instructions, and a mutation in those instructions cannot be bypassed by nutrition. However, a healthy diet is still important for managing the condition's effects, such as eating iron-rich foods to recover from blood loss. Avoiding foods and supplements that act as natural blood thinners is also a critical part of dietary management. Always rely on medical treatments prescribed by a hematologist rather than dietary 'cures' for clotting disorders.
Surgery for a person with Factor XI Deficiency is managed through a detailed 'hemostatic plan' created by a hematologist. Depending on the type of surgery and the patient's factor levels, the plan may include infusions of Factor XI concentrate or Fresh Frozen Plasma before the procedure. Antifibrinolytic medications are often started just before surgery and continued for several days afterward to help stabilize clots during the healing process. Surgeons may also use topical agents like fibrin glue at the surgical site to minimize local bleeding. Close monitoring for several days after the operation is essential, as delayed bleeding is a hallmark of this condition.