prothrombin thrombophilia

Prothrombin thrombophilia, also known as Prothrombin G20210A, is an inherited disorder that affects the way blood clots. Individuals with this condition have a genetic mutation that leads to an increased production of prothrombin, a protein essential for blood clotting.

Characteristics and Risks

• Increased risk of blood clots: People with prothrombin thrombophilia are more likely to develop abnormal blood clots, which can lead to serious health issues.
• Deep-vein thrombosis (DVT): This condition increases the risk of DVT, a type of blood clot that forms in the deep veins of the legs.
• Pregnancy complications: Women with prothrombin thrombophilia are at higher risk for pregnancy-related complications, such as miscarriage and stillbirth.

Causes and Genetics

• Inherited condition: Prothrombin thrombophilia is an inherited disorder, meaning it is passed down from parents to their children.
• Genetic mutation: The condition is caused by a specific genetic mutation in the prothrombin gene (G20210A), which leads to increased production of prothrombin.

Symptoms and Diagnosis

• No symptoms: In many cases, people with prothrombin thrombophilia do not experience any noticeable symptoms.
• Diagnosis: The condition is typically diagnosed through genetic testing or by analyzing blood clotting times.

References: * [1] Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in [1]. * [2] Prothrombin thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in [2]. * [3] They are said to have an inherited thrombophilia (clotting disorder) called prothrombin G20210A. When this occurs, they make too much of the prothrombin protein in [3]. * [4] Prothrombin gene mutation (or Factor II mutation or Prothrombin G20210A) is an inherited condition that increases your predisposition to develop abnormal blood clots in [4]. * [5] Summary. Prothrombin-related thrombophilia affects the way the blood clots. Individuals who have a thrombophilia have an increased risk to form abnormal blood clots in [5].

Symptoms of Prothrombin Thrombophilia

Prothrombin thrombophilia, also known as factor II deficiency, is a rare genetic disorder that affects the blood's ability to clot. People with this condition are at an increased risk of developing unwanted blood clots (thrombi) in their veins or arteries.

Common Symptoms:

• Abnormal bleeding: This can include easy bruising, nosebleeds, or heavy menstrual periods [8].
• Swelling and pain: Swelling and tenderness in the calf or leg, leg ache or pain, and pain that intensifies when the foot is bent upward are common symptoms [3].
• Chest pain and shortness of breath: These can be signs of a pulmonary embolism (blood clot in the lung) [6].
• Lightheadedness and dizziness: These symptoms can occur due to decreased blood flow to the brain [2].

Other Possible Symptoms:

• Painful left arm: This symptom is associated with prothrombin thrombophilia, although it's not as common as other symptoms [1].
• Sweating and nausea: These symptoms can occur in some cases of prothrombin thrombophilia [1].

Important Note: If you or someone you know is experiencing any of these symptoms, seek medical attention immediately. Early diagnosis and treatment can help prevent serious complications.

References:

[1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [6] - Context result 6 [8] - Context result 8

Diagnostic Tests for Prothrombin Thrombophilia

Prothrombin thrombophilia, also known as Factor II gene mutation, is a genetic disorder that increases the risk of blood clotting. The diagnosis of this condition involves several tests to confirm the presence of a heterozygous or homozygous pathogenic variant(s) 20210G>A in F2 identified by molecular genetic testing.

• Molecular Genetic Testing: This is the primary test used to diagnose prothrombin thrombophilia. It involves analyzing DNA samples from an individual to identify the presence of a heterozygous or homozygous pathogenic variant(s) 20210G>A in F2 (see Table 1).
• Prothrombin Time (PT): This test measures the time it takes for blood to clot. While not specific to prothrombin thrombophilia, an abnormal PT result may indicate a coagulation disorder.
• Activated Partial Thromboplastin Time (aPTT): This test measures the time it takes for blood to clot in the presence of an activator. An abnormal aPTT result may suggest a problem with the intrinsic coagulation pathway, which can be related to prothrombin thrombophilia.
• Dilute Russell's Viper Venom Time (dRVVT): This test measures the time it takes for blood to clot in the presence of a venom. An abnormal dRVVT result may suggest a problem with the intrinsic coagulation pathway, which can be related to prothrombin thrombophilia.
• Thrombin Time (Bovine): This test measures the time it takes for blood to clot after adding thrombin. While not specific to prothrombin thrombophilia, an abnormal thrombin time result may indicate a coagulation disorder.

Clinical Indications for Testing

Prothrombin thrombophilia testing is typically recommended in individuals with a history of recurrent venous thrombosis or first venous thrombosis at a young age (see [4] and [3]). Additionally, testing may be considered in asymptomatic family members of patients with a known familial thrombophilia.

References

• The diagnosis of prothrombin thrombophilia is established in a proband with a heterozygous or homozygous pathogenic variant(s) 20210G>A in F2 identified by molecular genetic testing (see [1]).
• Prothrombin time (PT); activated partial thromboplastin time (aPTT); dilute Russell's viper venom time (dRVVT); and thrombin time (bovine) are tests that may be used to support the diagnosis of prothrombin thrombophilia (see [2] and [14]).
• Clinical indications for testing include a history of recurrent venous thrombosis or first venous thrombosis at a young age (see [4] and [3]).

Treatment for Prothrombin Thrombophilia

Prothrombin thrombophilia, also known as prothrombin gene variant (PGM), is an inherited disorder that increases the risk of developing blood clots. The main treatment for this condition is anticoagulant medicine to prevent and treat blood clots.

• Anticoagulant Medicine: Anticoagulants are medications that help prevent the formation of blood clots or prevent existing clots from getting bigger. These medicines are usually prescribed by a healthcare provider if you develop a deep vein thrombosis (DVT) or pulmonary embolism.
• Duration of Treatment: The length of treatment may vary depending on individual factors, such as the severity of the condition and the risk of blood clot recurrence [3]. Your healthcare provider will assess your risks and determine the best course of treatment for you.

Other Considerations

If you have prothrombin thrombophilia, it's essential to discuss your condition with your healthcare provider before starting any new medications, including combined oral contraceptives (COCs). Testing for thrombophilia is not recommended in the general population before starting COCs [12].

Additionally, if you're at high risk of blood clots during pregnancy, your healthcare provider may recommend anticoagulant medicine to prevent complications [9].

References

• The main treatment for prothrombin thrombophilia is anticoagulant medicine [1].
• Anticoagulants help prevent the formation of blood clots or prevent existing clots from getting bigger [3].
• The length of treatment may vary depending on individual factors, such as the severity of the condition and the risk of blood clot recurrence [3].
• Testing for thrombophilia is not recommended in the general population before starting COCs [12].
• If you're at high risk of blood clots during pregnancy, your healthcare provider may recommend anticoagulant medicine to prevent complications [9].

The differential diagnosis of prothrombin thrombophilia involves identifying other inherited and acquired conditions that may present with similar symptoms.

According to the search results, several other inherited thrombophilic disorders are included in the differential diagnosis of venous thromboembolism (VTE) [2]. These include:

• Factor V Leiden mutation: This is the most common inherited predisposition to a deep vein thrombosis or pulmonary embolism [4].
• Protein C deficiency: This is another inherited condition that increases the risk of developing blood clots.
• Protein S deficiency: Similar to protein C deficiency, this is an inherited condition that can increase the risk of blood clots.

In addition to these inherited conditions, acquired factors such as cancer, trauma, and surgery can also contribute to the development of VTE [9].

The diagnosis of prothrombin thrombophilia may be confirmed by a combination of symptoms, physical examination, blood tests, and imaging studies [6]. A table (Table 1) is available that differentiates between various thrombophilias based on symptoms, physical examination, and laboratory findings [7].

It's worth noting that the prothrombin G20210A mutation is the second most common inherited thrombophilia after factor V Leiden [8], making it an important consideration in the differential diagnosis of VTE.

References: [2] Feb 4, 2021 — The differential diagnosis of venous thromboembolism (VTE) includes several other inherited thrombophilic disorders (discussed here) and ... [4] Although the prothrombin gene mutation is the second most common inherited predisposition to a deep vein thrombosis or pulmonary embolism, it is the weakest of ... [6] Prothrombin-related thrombophilia is diagnosed based on the symptoms, physical exam, blood tests, and imaging studies. The diagnosis may be confirmed by the ... [7] Feb 26, 2021 — Table 1: Differentiating different thrombophilias on the basis of symptoms, physical examination, and laboratory findings · Nephrotic syndrome ... [8] Feb 28, 2023 — INTRODUCTION. Prothrombin G20210A is the second most common inherited thrombophilia after factor V Leiden. Challenging clinical issues ...