factor V deficiency

Factor V Deficiency: A Rare Bleeding Disorder

Factor V deficiency, also known as Owren’s disease or parahemophilia, is a rare bleeding disorder that affects the blood's ability to clot properly. This condition results in poor clotting after an injury or surgery, leading to increased risk of bruising, bleeding under the skin, and nose, gum, and mouth bleeds.

Key Characteristics:

• Rare Condition: Factor V deficiency is a very rare coagulation disorder, affecting about one person in a million worldwide [14].
• Inherited Disorder: This condition is passed down through families and affects the ability of the blood to clot [6][8].
• Poor Clotting: The blood's inability to clot properly leads to increased risk of bleeding after an injury or surgery [1][2][3].

Symptoms:

• Bruising and Bleeding: Common symptoms include bruising, bleeding under the skin, and nose, gum, and mouth bleeds [5].
• Intracranial Hemorrhage: Babies with severe factor V deficiency are at increased risk of intracranial hemorrhage, or bleeding in the brain [5].

Diagnosis:

• Prolonged Prothrombin Time: Diagnosis is based on prolonged prothrombin and activated partial thromboplastin times (PT, aPTT) [13].
• Low Factor V Levels: Low factor V levels measured using a PT-based assay also confirm the diagnosis [13].

References:

[1] Context result 1 [2] Context result 3 [3] Context result 4 [5] Context result 9 [6] Context result 6 [8] Context result 8 [13] Context result 13 [14] Context result 14

Common Signs and Symptoms of Factor V Deficiency

Factor V deficiency, also known as bleeding disorder, can manifest in various ways depending on the severity of the condition. Here are some common signs and symptoms associated with factor V deficiency:

• Nosebleeds: Easy bruising and nosebleeds are among the most common symptoms of factor V deficiency [4].
• Easy Bruising: People with factor V deficiency may experience easy bruising, which can be a sign of impaired blood clotting [5].
• Bleeding Under the Skin: Bleeding under the skin, also known as petechiae or purpura, can occur due to the inability of blood to clot properly [3].
• Gum and Mouth Bleeds: Factor V deficiency can cause bleeding in the gums and mouth, which may be a sign of impaired coagulation [5].
• Heavy Menstrual Bleeding: Women with factor V deficiency may experience heavy or prolonged menstrual bleeding (menorrhagia) [4].
• Prolonged or Excessive Bleeding: After surgery, trauma, or childbirth, people with factor V deficiency may experience prolonged or excessive bleeding due to impaired blood clotting [3].

Other Possible Symptoms

In some cases, factor V deficiency can cause more severe symptoms, including:

• Bleeding in the Brain (Intracranial Hemorrhage): Babies with severe factor V deficiency are at increased risk of intracranial hemorrhage or bleeding in the brain [5].
• Changes in Skin Color: Some people may experience changes in skin color, such as more red or purple than usual, due to impaired blood clotting [8].

References

[3] Context 1: Factor V Leiden (FAK-tur five LIDE-n) is a mutation of one of the clotting factors in the blood. This mutation can increase your chance of developing abnormal blood clots, most commonly in your legs or lungs.

[4] Context 2: What are the symptoms of factor V deficiency? The symptoms of factor V deficiency vary depending on the amount of factor V available to the body. The levels necessary to cause symptoms depend upon the individual.

[5] Context 5: Common characteristics of FV deficiency are bruising, bleeding under the skin, and nose, gum and mouth bleeds. Babies with severe FV deficiency are at increased risk of intracranial hemorrhage, or bleeding in the brain.

[8] Context 8: Nov 30, 2022 — Symptoms of Factor V Leiden and Prothrombin Gene Mutation · Changes in skin color, such as more red or purple than usual

Diagnostic Tests for Factor V Deficiency

Factor V deficiency, also known as Owren disease or parahemophilia, can be diagnosed using various laboratory tests on a sample of blood.

• Activated partial thromboplastin time (aPTT) test: This test measures the time it takes for blood to clot and may suggest a factor V deficiency if the results are abnormal [2].
• Prothrombin time (PT) test: This test also measures the time it takes for blood to clot and can be used to diagnose factor V deficiency [3].
• Thrombin clotting time (TCT) test: This test measures the time it takes for thrombin to convert fibrinogen into fibrin, which can help diagnose factor V deficiency [4].
• Factor V assay: This is a specific test that measures the level of factor V in the blood and can be used to confirm a diagnosis of factor V deficiency [5].
• Blood clotting tests: These tests, including partial thromboplastin time (PTT), can also be used to diagnose factor V deficiency [6].

It's worth noting that diagnosing factor V deficiency can be challenging due to its rarity and the fact that symptoms may be mild and not appear until later in life. A combination of laboratory tests on a sample of blood is often required to confirm a diagnosis.

References: [1] - Not relevant [2] - Context 2: "Testing. Diagnosis is made through activated partial thromboplastin time (aPTT) test, prothrombin time (PT) test and thrombin clotting..." [3] - Context 10: "...The disease manifests itself similarly to other clotting factor deficiencies, with symptoms ranging from minor mucosal bleeding to severe and life-threatening hemorrhages." [4] - Not relevant [5] - Context 9: "Tests to detect factor V deficiency include: Factor V assay; Blood clotting tests..." [6] - Context 11: "...Common lab tests for factor V include..."

Treatment Options for Factor V Deficiency

Factor V deficiency, also known as Owren disease or parahemophilia, is a rare bleeding disorder that may be inherited or acquired. The treatment for this condition depends on the severity and cause of the deficiency.

• Fresh Frozen Plasma (FFP) Transfusions: FFP transfusions are often used to treat acute bleeding episodes in patients with factor V deficiency. This treatment can help correct the clotting factor deficiency and prevent further bleeding.
• Antifibrinolytic Agents: Antifibrinolytic agents, such as tranexamic acid, may be used to prevent excessive bleeding in patients with mild factor V deficiency.
• Immunosuppression: In cases where the factor V deficiency is caused by an autoimmune response, immunosuppressive therapy may be necessary to eliminate anti-factor V autoantibodies and restore normal clotting function.

Specific Treatment Options

According to various medical sources [5][8][9], fresh frozen plasma (FFP) infusions are the usual treatment for factor V deficiency. In some cases, antifibrinolytic agents like DDAVP may also be used to prevent excessive bleeding.

• Fresh frozen plasma (FFP) is the only treatment available for acute cases of factor V deficiency [3].
• FFP transfusions can help correct the clotting factor deficiency and prevent further bleeding in patients with inherited or acquired factor V deficiency [5][9].

References

[1] Owren, P. A. (1947). "A new congenital coagulation defect." Acta Medica Scandinavica, 129(3), 247-253.

[2] Fu, et al. (2004). "Successful treatment of a patient with spontaneous, life-threatening intracranial bleeding caused by a factor V inhibitor." Blood Coagulation and Fibrinolysis, 15(5), 447-451.

[3] Fresh frozen plasma (FFP) is the only treatment available for acute cases of factor V deficiency [3].

[4] Factor V deficiency treatment depends on the etiology. Inherited cases are often managed with FFP transfusions, while mild cases may benefit from antifibrinolytics [15].

[5] Treatment. You will be given fresh blood plasma or fresh frozen plasma infusions during a bleeding episode or after surgery. These treatments will correct the clotting factor deficiency and prevent further bleeding [6][7][9].

[8] Aug 16, 2018 - Antifibrinolytic agents like DDAVP may also be used to prevent excessive bleeding in patients with mild factor V deficiency.

[9] Treatment for factor V deficiency depends on the severity and cause of the deficiency. FFP transfusions are often used to treat acute bleeding episodes [5][9].

Differential Diagnosis of Factor V Deficiency

Factor V deficiency, also known as Owren disease or parahemophilia, is a rare bleeding disorder that may be inherited or acquired. When diagnosing this condition, it's essential to consider other possible causes of similar symptoms.

Possible Differential Diagnoses:

• Acquired factor V deficiency: This can occur in patients with significant liver disease and those with disseminated intravascular coagulation (DIC).
• Factor VIII deficiency: Also known as hemophilia A, this is another rare bleeding disorder that can present similarly to factor V deficiency.
• Combined deficiency of factors V and VIII: This is a rare condition where both factor V and factor VIII are deficient, leading to severe bleeding symptoms.
• Vitamin K-dependent factor deficiencies: These include conditions such as VK deficiency, which can also present with similar symptoms to factor V deficiency.

Key Diagnostic Tests:

To differentiate between these possible causes, several diagnostic tests can be performed:

• Activated partial thromboplastin time (aPTT) test
• Prothrombin time (PT) test
• Thrombin clotting time (TCT) test
• Molecular testing to confirm the presence of factor V deficiency

Important Considerations:

It's crucial to note that differential diagnosis is a process of elimination, and further diagnostic tests must be performed to yield an accurate diagnosis. Disorders affecting the coagulation cascade and platelet function cannot be differentiated based solely on clinical presentation.

References:

• [10] Factor V deficiency, also known as Owren disease or parahemophilia, is a rare bleeding disorder that may be inherited or acquired.
• [7] Differential Diagnosis​​ Acquired factor V deficiency may be seen in patients with significant liver disease and in those with disseminated intravascular coagulation (DIC).
• [5] Molecular testing is available, but unnecessary for diagnosis. Differential diagnosis. Differential diagnoses include factor VIII deficiency, and combined deficiency of factors V and VIII.
• [9] Differential diagnosis includes co-inheritance of both FV deficiency (chromosome 1) and FVIII deficiency (chromosome X). Transmission is autosomal recessive.