factor VII deficiency

What is Factor VII Deficiency?

Factor VII deficiency, also known as Alexander's disease, is a rare bleeding disorder caused by a lack of a protein called factor VII in the blood. This protein plays a critical role in the coagulation system, which forms blood clots in response to injury.

• Causes: Factor VII deficiency is inherited in an autosomal recessive fashion, meaning both parents must carry the gene to pass it on to their children. It affects men and women equally.
• Incidence: The incidence of factor VII deficiency is estimated at 1 per 300,000-500,000 people.
• Symptoms: The symptoms of factor VII deficiency can range from asymptomatic condition-even in homozygous subjects-to severe life-threatening bleeding episodes.

How Does it Affect the Body?

Factor VII deficiency affects the body's ability to form blood clots. When an injury occurs, the body relies on a series of chemical reactions to form a clot and stop the bleeding. In people with factor VII deficiency, this process is impaired due to the lack of factor VII protein.

• Coagulation Cascade: Factor VII initiates the coagulation cascade in conjunction with tissue factor (TF/factor III) in the extrinsic pathway.
• Bleeding Episodes: People with factor VII deficiency may experience severe bleeding episodes, which can be life-threatening if not treated promptly.

Treatment and Management

The best treatment for factor VII deficiency is recombinant factor VIIa, a manufactured replacement protein. It is used to prevent bleeding (prophylaxis) or to treat bleeding episodes when they happen.

• Recombinant Factor VIIa: This medication is given in a vein (IV) to bring the factor VII level back up to normal.
• Prophylaxis and Treatment: Recombinant factor VIIa is used to prevent bleeding episodes and to treat them when they occur.

Bleeding Disorders: Understanding Factor VII Deficiency

Factor VII deficiency, also known as coagulation factor VII deficiency, is a rare bleeding disorder characterized by a lack or reduced activity of clotting factor VII in the blood. The symptoms and severity of this condition can vary greatly among affected individuals.

Common Signs and Symptoms:

• Prolonged bleeding and easy bruising
• Bleeding gums
• Nosebleeds (epistaxis) that are hard to stop
• Heavy periods (menorrhagia)
• Bloody pee (hematuria) or bloody stools

These symptoms can occur at any age, but the most severe cases are often apparent in infancy. However, up to one-third of people with factor VII deficiency may never experience any bleeding problems.

Variability in Symptoms:

The severity and frequency of symptoms can vary greatly among individuals with factor VII deficiency. Some may not develop any symptoms (asymptomatic), while others may experience mild or severe bleeding episodes. The lack of a consistent correlation between the amount of factor VII in the blood and overall severity makes it challenging to predict the likelihood of symptoms.

References:

• [1] Factor VII deficiency can lead to prolonged bleeding and easy bruising, with signs and symptoms including bleeding gums, nosebleeds, heavy periods, and bloody pee or stools. (Source: #2)
• The symptoms and severity of factor VII deficiency are highly variable; no consistent correlation between the amount of factor VII in the blood and overall severity is seen. Some individuals may not develop any symptoms (asymptomatic), including individuals with relatively low levels of factor VII. (Source: #2)
• People with a severe deficiency of Factor VII can have problems with bleeding – such as bleeding more severely following injury or for a longer time. (Source: #8)

Diagnostic Tests for Factor VII Deficiency

Factor VII deficiency can be diagnosed through various tests, which are essential in confirming the condition. Here are some of the diagnostic tests used to diagnose factor VII deficiency:

• Activated Partial Thromboplastin Time (aPTT) test: This test is used to evaluate the clotting time and can help identify abnormalities in the coagulation cascade.
• Prothrombin Time (PT) test: This test measures the time it takes for blood to clot and can indicate any issues with factor VII activity.
• Factor VII assay: A specific assay using known factor VII-deficient plasma is required to confirm the diagnosis of factor VII deficiency. [9]
• Plasma factor VII activity: Measuring the activity of factor VII in the blood can help diagnose factor VII deficiency. [6], [8]
• Mixing study, a special PTT test: This test is used to confirm factor VII deficiency by mixing patient plasma with normal plasma and retesting the clotting time. [6], [8]

These diagnostic tests are crucial in confirming the diagnosis of factor VII deficiency and can help healthcare providers develop an effective treatment plan.

References:

• [1] - Checking for a family history of bleeding disorders
• [2] - A variety of specialized blood tests, including assays to confirm a diagnosis
• [3] - Further tests known as assays are required to confirm a diagnosis
• [5] - Diagnosis can be confirmed with a FVII assay
• [9] - A specific assay for factor VII, using known factor VII–deficient plasma, is required to confirm the diagnosis.

Treatment Options for Factor VII Deficiency

Factor VII deficiency, also known as congenital factor VII (FVII) deficiency, is a rare bleeding disorder that can be treated with various medications. The primary goal of treatment is to replace the missing or deficient factor VII protein in the blood.

• Recombinant Factor VIIa (rFVIIa): This is the most commonly used medication for treating factor VII deficiency. rFVIIa is produced in a laboratory using genetic engineering techniques and is administered intravenously. It helps to replace the missing factor VII protein and promote clotting.
• Prothrombin Complex Concentrates (PCCs): PCCs are another treatment option for factor VII deficiency. They contain various clotting factors, including factor VII, which can help to control bleeding episodes.

Medications Used in Treatment

The following medications may be used to treat factor VII deficiency:

• Novoseven: This is a recombinant factor VIIa medication that helps to replace the missing factor VII protein and promote clotting.
• NovoSeven RT: This is another recombinant factor VIIa medication that has been proven effective in treating factor VII deficiency at home.

Important Considerations

It's essential to note that treatment for factor VII deficiency should only be administered under the guidance of a healthcare professional. Additionally, individuals with factor VII deficiency should avoid taking certain medications, such as non-steroidal anti-inflammatory drugs (NSAIDs), which can interfere with clotting.

References:

• [1] Recombinant factor VIIa is approved by the US Food and Drug Administration for the treatment of bleeding in persons with congenital factor VII deficiency. []Although originally developed for the treatment of inhibitor ...
• [2] Factor VII deficiency is a disorder in which a lack of plasma protein factor VII leads to abnormal bleeding.
• [3] Treatment of acquired FVII deficiency is based on the underlying etiology (eg, vitamin K supplementation for patients with vitamin K deficiency); however, recombinant activated FVII, which is indicated for use in patients with congenital FVII deficiency, has been used off label to control refractory bleeding ...
• [6] Acquired factor VII deficiency can result from severe liver disease, sepsis or vitamin K deficiency. Certain drugs such as warfarin (Coumadin®) can result in acquired factor VII ...

Understanding Factor VII Deficiency

Factor VII deficiency is a rare genetic bleeding disorder characterized by a deficiency or reduced activity of clotting factor VII [4]. This condition affects approximately 1 in 500,000 individuals worldwide [3].

Causes and Symptoms

The causes of Factor VII deficiency can be either genetic or acquired. Genetic impairment is the most common cause, while acquired cases are often secondary to pathological situations such as liver disease or vitamin K deficiency [7]. The symptoms of this condition include bleeding episodes that can range from mild to severe [9].

Differential Diagnosis

When diagnosing Factor VII deficiency, it's essential to consider other conditions that may present with similar symptoms. These include inherited and acquired coagulopathies, such as hemophilia A or B, and vitamin K-dependent clotting factor deficiencies [1]. The differential diagnosis can be made by measuring the levels of other vitamin K-dependent factors, which are also decreased in Factor VII deficiency [1].

Genetic Implications

Factor VII deficiency is an autosomal recessive bleeding disorder that occurs in mild, moderate, and severe forms [6]. The hereditary character of this deficiency can only be confirmed after two separate determinations of FVII activity and an in-depth familial inquiry [8].

Treatment and Management

The treatment for Factor VII deficiency involves replacement therapy with clotting factor concentrates. This is usually administered on demand to manage bleeding episodes [5].

References:

[1] Context result 1 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9