Blood Clotting Disorders

What are blood clotting disorders?

Blood clotting disorders, also known as coagulation disorders, are conditions that affect the body's ability to form blood clots properly. Blood clots are essential to stop bleeding when an injury occurs. But when the clotting process doesn't work as it should, it can lead to either excessive bleeding or the formation of dangerous clots.

When your blood is clotting normally, your body starts a complex process called coagulation after an injury. Platelets (small blood cells) and clotting factors (proteins in the blood) work together to form a clot that seals the wound and prevents further blood loss.

There are two main categories of blood clotting disorders. Excessive bleeding disorders occur when the blood doesn't clot properly, leading to prolonged or excessive bleeding after an injury, surgery, or even spontaneously. Examples include hemophilia and von Willebrand disease. Excessive clotting, or thrombotic disorders, occur when the blood clots too easily or excessively, leading to the formation of clots that can block blood vessels. This can cause serious problems like deep vein thrombosis (DVT), pulmonary embolism (PE), stroke, or heart attack. Examples include Factor V Leiden and protein C or protein S deficiency.

Blood clotting disorders, as a group, are not necessarily rare, but the rarity depends on the specific disorder. Some are more common than others. The most common inherited blood clotting disorder is Factor V Leiden thrombophilia. With Factor V Leiden, you are born with a gene that makes your blood more likely to clot when it should not. It's estimated that about 5% of the Caucasian population in the United States has this genetic mutation. Your AHN care team will determine a treatment course that is specific to your unique health needs. 

Nonmalignant Blood Disorders Program

Benign disorders of the blood are noncancerous conditions that affect the components of your blood, such as red blood cells, white blood cells, and platelets. These disorders can impact the blood's ability to function correctly, but they are not malignant or life-threatening in the same way as blood cancers. Our benign blood disorder specialists at Nonmalignant Blood Disorders Program can help.

Why choose AHN for blood clotting disorder treatment?

Our non-malignant blood disorder specialists have the expertise to help you with your blood clotting disorder. At AHN, you can expect:

• Expertise: AHN hematologists (doctors specializing in blood disorders) have specific expertise in diagnosing and treating various blood clotting disorders.
• Comprehensive care: AHN offers a comprehensive approach, including diagnosis, treatment, and ongoing management of blood clotting disorders. This may involve access to various specialists, such as hematologists, vascular surgeons, and other health care professionals who are dedicated to helping you.
• Advanced technology: AHN uses advanced diagnostic tools and treatment options for blood clotting disorders.
• Research and innovation: Using the latest technology means we are continuously looking at research to drive our treatment options. AHN participates in a variety of clinical trials to help find solutions for our patients.
• Patient-centered approach: AHN prioritizes a patient-centered approach, focusing on individualized care and patient education so you can feel confident in your treatment options. 

Quick guide to blood clotting disorders

Blood clotting disorders symptoms and signs

Blood clotting disorders screening and diagnosis

Types and severity of blood clotting disorders

Blood clotting disorders treatment

Blood clotting disorders FAQs

Contact us 

Blood clotting disorders symptoms and signs

Symptoms of clotting disorders can sometimes mimic other medical conditions, making accurate diagnosis crucial. The severity of symptoms can vary widely depending on the specific blood clotting disorder. Some people may have a genetic predisposition to blood clotting disorders but may not experience any symptoms until triggered by certain events (e.g., surgery, pregnancy, prolonged immobility). If you experience any of these signs or symptoms, it's essential to seek prompt medical evaluation to determine the cause and receive appropriate treatment.

Symptoms and signs of bleeding disorders

Disorders when blood doesn't clot well enough include: 

• Easy bruising: Bruising easily or for no apparent reason, or having large, deep bruises.
• Prolonged bleeding: Bleeding for a longer time than normal after cuts, scrapes, surgery, dental work, or childbirth.
• Frequent nosebleeds: Nosebleeds that occur frequently and are difficult to stop.
• Heavy menstrual periods (menorrhagia): Unusually heavy or prolonged menstrual bleeding in those assigned female at birth.
• Blood in urine or stool: Blood in the urine (hematuria) or stool (hematochezia or melena).
• Bleeding gums: Gums that bleed easily, especially when brushing or flossing.
• Joint pain and swelling: Bleeding into joints (hemarthrosis) can cause pain, swelling, and stiffness. This is more common in severe bleeding disorders like hemophilia.
• Internal bleeding: In severe cases, internal bleeding can occur, leading to symptoms such as weakness, dizziness, abdominal pain, or changes in mental status.
• Excessive bleeding after vaccination or injections: Unusual bleeding after routine vaccinations or injections.

Symptoms and signs of clotting disorders

Disorders when blood clots too easily cause symptoms often related to the location of the blood clot.

Deep vein thrombosis (DVT)

Symptoms of a clot in a deep vein, usually in the leg, include:

• Pain: Leg pain, often described as a cramp or Charley horse.
• Swelling: Swelling in the affected leg, ankle, or foot.
• Warmth: Skin that is warm to the touch in the affected area.
• Redness: Red or discolored skin in the affected area.
• Sometimes, there are no noticeable symptoms.

Pulmonary embolism (PE)

Symptoms of a clot that travels to the lungs include:

• Sudden shortness of breath: Difficulty breathing or feeling like you can't get enough air.
• Chest pain: Sharp or stabbing chest pain, which may worsen with deep breathing or coughing.
• Cough: Coughing up blood (hemoptysis).
• Rapid heartbeat: Increased heart rate.
• Dizziness or lightheadedness: Feeling faint or passing out.

Stroke

Symptoms of a clot in the brain include:

• Sudden numbness or weakness: Numbness or weakness of the face, arm, or leg, especially on one side of the body.
• Difficulty speaking or understanding: Slurred speech or trouble understanding others.
• Vision problems: Sudden blurred or double vision, or loss of vision in one or both eyes.
• Severe headache: Sudden, severe headache with no known cause.
• Dizziness or loss of balance: Sudden loss of balance or coordination.

Causes and risk factors

Blood clotting disorders, also known as thrombophilia, can be caused by a variety factors. Some of those factors can be genetic (inherited from a parent) or then can occur from another health event or situation. Often, blood clots develop due to a combination of genetic and acquired risk factors. For example, someone with Factor V Leiden may only develop a clot after surgery or during pregnancy.

Causes

The causes of thrombophilia are also referred to as acquired thrombophilia. This is when thrombophilia happens due to a factor outside of genetics. Acquired thrombophilia can happen due to:

• Surgery: Major surgery, especially orthopedic surgery (hip or knee replacement), significantly increases the risk of blood clots due to tissue damage and immobilization.
• Prolonged immobility: Extended periods of inactivity, such as long flights, bed rest, or paralysis, can slow blood flow and increase clotting risk.
• Cancer: Certain cancers, especially those of the pancreas, lung, and ovary, are associated with an increased risk of blood clots. Chemotherapy can also contribute.
• Pregnancy: Pregnancy increases the risk of blood clots due to hormonal changes and pressure on the veins in the pelvis. The risk is highest in the postpartum period.
• Hormone therapy and oral contraceptives: Estrogen-containing medications, such as birth control pills and hormone replacement therapy, can increase clotting factors.
• Obesity: Excess weight can increase the risk of blood clots due to increased pressure on veins and other factors.
• Smoking: Smoking damages blood vessels and increases the risk of blood clot formation.
• Antiphospholipid Syndrome (APS): This is an autoimmune disorder in which the body produces antibodies that attack phospholipids, leading to an increased risk of blood clots.
• Certain medical conditions: Inflammatory bowel disease (IBD) and conditions like Crohn's disease and ulcerative colitis are associated with increased clotting risk.
• Nephrotic syndrome: A kidney disorder that causes protein to leak into the urine, which can lead to increased blood clotting.
• Myeloproliferative neoplasms: Blood cancers that cause the overproduction of blood cells, increasing clotting risk.
• Paroxysmal nocturnal hemoglobinuria (PNH): A rare blood disorder that can lead to blood clots.
• Trauma: Significant injuries can damage blood vessels and trigger clot formation.
• Central venous catheters: Catheters placed in large veins can increase the risk of blood clots.
• Age: The risk of blood clots increases with age.

Genetic risk factors

When a parent or grandparent has a blood clotting disorder, it can be more common for that to be passed onto their children. Many people with genetic thrombophilia never develop blood clots. The presence of a genetic mutation only increases the risk; it doesn't guarantee a clot will form. The types of blood clotting disorders includes that are caused by genetic factors include:

• Factor V Leiden: This is the most common inherited blood clotting disorder. It involves a mutation in the factor V gene, making the blood more prone to clotting.
• Prothrombin G20210A Mutation: This is the second most common inherited cause. It increases the production of prothrombin, a protein involved in blood clotting.
• Protein C deficiency, protein S deficiency, antithrombin deficiency: These are less common inherited conditions where the body doesn't produce enough of these natural anticoagulants.
  
• Other rare genetic mutations: Various other gene mutations can affect clotting factors and increase the risk of thrombosis.
• Family history: A family history of blood clots increases your risk, especially if a close relative developed a clot at a young age.

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Blood clotting disorders screening and diagnosis

If you have a personal or family history of blood clotting disorders, or if you have certain medical conditions or situations, your doctor may order a screening test. The specific reasons a screening test is ordered often include:

• Personal history:
  • Unexplained or recurrent venous thromboembolism (VTE), such as DVT or PE.
  • Arterial thrombosis (e.g., stroke, heart attack) at a young age (typically under 50) without other obvious risk factors.
  • Unusual site thrombosis (e.g., in the liver, mesenteric veins, or cerebral veins).
  • Recurrent miscarriages, especially in the second or third trimester.
  • Unexplained bleeding problems.
• Family history:
  • A known family history of inherited thrombophilia (increased risk of blood clots).
  • Family members with unexplained VTE or arterial thrombosis at a young age.
• Certain medical conditions or situations:
  • Those assigned female at birth planning to use oral contraceptives or hormone replacement therapy, especially if there is a personal or family history of thrombosis.
  • Pregnant women with a history of VTE or a strong family history of thrombophilia.
  • Patients undergoing major surgery or prolonged immobilization.
  • Individuals with autoimmune disorders (e.g., lupus).
  • Unexplained fetal loss.

Tests for suspected bleeding disorders

If your doctor suspects you may have a bleeding disorder, they may order additional blood tests. In some cases, imaging studies such as ultrasound, CT scans, or MRIs may be used to detect blood clots in the veins or arteries.

Tests for suspected bleeding disorders may include:

• Complete blood count (CBC): Measures red blood cells, white blood cells, and platelets.
• Platelet count: Determines the number of platelets in the blood.
• Prothrombin time (PT) and international normalized ratio (INR): Measures how long it takes for blood to clot. It assesses the function of certain clotting factors.
• Partial thromboplastin time (PTT): Another test that measures how long it takes for blood to clot. It assesses different clotting factors than the PT/INR.
• Fibrinogen level: Measures the amount of fibrinogen (a clotting factor) in the blood.
• Von Willebrand factor (VWF) studies: Measures VWF levels and activity. This is used to diagnose von Willebrand disease.
  
• Platelet function tests: Assess how well platelets are working.
• Clotting factor assays: Measure the levels of specific clotting factors (e.g., Factor VIII, Factor IX, Factor XI).

Tests for suspected clotting disorders (thrombophilia) may include:

• Activated protein C resistance (APCR) assay: Screening test for Factor V Leiden mutation.
• Factor V Leiden genetic testing: Confirms the presence of the Factor V Leiden mutation.
  
• Prothrombin (Factor II) mutation genetic testing: Detects the prothrombin G20210A mutation.
• Protein C and Protein S activity assays: Measure the levels and function of Protein C and Protein S, natural anticoagulants.
• Antithrombin activity assay: Measures the level and function of antithrombin, another natural anticoagulant.
• Lupus anticoagulant (LA) testing: Detects the presence of lupus anticoagulants, which are antibodies associated with an increased risk of thrombosis.
  
• Anticardiolipin antibody testing: Measures the levels of anticardiolipin antibodies, also associated with thrombosis.
• Beta-2 glycoprotein I antibody testing: Measures the levels of beta-2 glycoprotein I antibodies, another type of antibody linked to thrombosis.
• Homocysteine level: Elevated homocysteine levels can increase the risk of blood clots. 

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Types and severity of blood clotting disorders

Blood clotting disorders involve problems with the body's ability to form blood clots properly. These disorders can result in either excessive clotting (thrombophilia) or insufficient clotting (bleeding disorders), both of which can have significant health consequences or side effects.

Blood clotting disorders, also known as coagulation disorders or thrombophilia, don't have a universal "staging" system like cancer. Instead, they are classified based on the underlying cause, the specific clotting factors affected, and the severity of symptoms. Your AHN care team will help you understand your specific prognosis.

Bleeding (hemorrhagic) disorders

Bleeding disorders are conditions that affect your body's ability to stop bleeding properly. Normally, when you get a cut or injury, your blood forms a clot to plug the damaged blood vessel and stop the bleeding. In bleeding disorders, this clotting process doesn't work as it should, which can lead to prolonged or excessive bleeding. Bleeding disorders can be caused by problems with:

• Platelets: These are tiny blood cells that help form clots. Not having enough platelets (thrombocytopenia) or having platelets that don't work correctly can lead to bleeding.
• Clotting factors: These are proteins in the blood that work together in a specific order to form a clot. If one or more of these factors are missing or not working correctly, it can disrupt the clotting process.
• Blood vessels: Problems with the structure or function of blood vessels can also contribute to bleeding disorders.

There are many different types of bleeding disorders. They can be genetic or acquired due to a medical condition or health event. Some of the most common bleeding disorders include:

• Inherited bleeding disorders: These are passed down through families.
  • Hemophilia A and B: These are hereditary disorders that result in excessive bleeding.
  • Von Willebrand Disease (VWD): Affects the von Willebrand factor, a protein that helps platelets stick together, causing bleeding.
• Acquired bleeding disorders: These develop during your lifetime and are not caused by genetic factors.
  • Vitamin K deficiency: Vitamin K is needed to produce several clotting factors.
  • Liver disease: The liver makes many clotting factors, so liver damage can affect clotting.
  • Disseminated intravascular coagulation (DIC): A complex condition where the body's clotting system goes into overdrive, leading to both clotting and bleeding.
  • Thrombocytopenia: Low platelet count, which can be caused by various factors, including medications, autoimmune disorders, or infections.

Clotting (thrombotic) disorders

Your blood's ability to clot is a vital process. It stops you from bleeding too much when you're injured. However, sometimes this system can be overactive or not work correctly, leading to what we call clotting disorders. These disorders can cause either excessive clotting (thrombophilia) or excessive bleeding (bleeding disorders), though often the term "clotting disorder" refers to those that cause too much clotting. There are many different types of clotting disorders, some are inherited (passed down through families), and some are acquired (developed during your lifetime). Common disorders that cause too much clotting include:

• Factor V Leiden: This is the most common inherited clotting disorder. It increases the risk of developing abnormal blood clots, most often in the legs or lungs.
• Prothrombin G20210A mutation: Similar to Factor V Leiden, this genetic mutation increases the risk of blood clots.
• Antithrombin deficiency: Antithrombin is a natural anticoagulant (something that prevents clotting). A deficiency in antithrombin increases the risk of abnormal clotting.
• Protein C and protein S deficiency: Protein C and S are also natural anticoagulants. Deficiencies in these proteins can lead to increased clotting.
  

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Blood clotting disorders treatment

Treatment for your blood clotting disorder will be tailored to your specific needs. Whether you're dealing with a condition that causes too much clotting or too much bleeding, the aim is to bring your blood's ability to clot back into a healthy balance.

If your blood clots too easily, known as hypercoagulation, the main goal is to prevent dangerous clots from forming in your blood vessels. Common treatments include:

• Anticoagulants (blood thinners): These medications don't actually thin your blood, but they make it take longer to form a clot. They come in different forms:
• Pills: Warfarin (Coumadin) is a classic example, but newer options like rivaroxaban (Xarelto), apixaban (Eliquis), edoxaban (Savaysa), and dabigatran (Pradaxa) are also frequently used. These newer ones often require less monitoring than warfarin.
• Injections: Heparin (various types) is usually given as an injection, often when a quick effect is needed, or during pregnancy when some oral anticoagulants aren't safe.
• Antiplatelet drugs: These medications, like aspirin or clopidogrel (Plavix), make your platelets (blood cells that help with clotting) less sticky, reducing the chance of clots forming. They're often used to prevent clots in arteries, which can cause heart attacks or strokes.
• Thrombolytics ("clot busters"): These are powerful drugs used in emergencies to dissolve dangerous blood clots that are already blocking blood flow (like in a stroke or severe pulmonary embolism).
  
• Compression stockings: These special socks can help improve blood flow in your legs and prevent clots, especially if you're at risk due to prolonged sitting or standing.
• Lifestyle changes: Staying active, maintaining a healthy weight, and drinking plenty of water can all help improve blood flow and reduce your risk of clots.

If your blood doesn’t clot easily (a bleeding disorder), the goal is to help your blood clot properly to prevent excessive bleeding. Here are some common treatments:

• Replacement therapy: If you're missing a specific clotting factor (like in hemophilia), you can receive infusions of that factor to help your blood clot normally. These infusions can be given preventively or to stop a bleeding episode.
• Desmopressin (DDAVP): This medication can help release stored clotting factors in your body, improving your blood's ability to clot. It's often used for mild forms of hemophilia or von Willebrand disease.
• Antifibrinolytic drugs: These medications, like tranexamic acid or aminocaproic acid, help prevent blood clots from breaking down too quickly, which can help control bleeding.
• Topical treatments: For minor cuts or nosebleeds, special bandages, glues, or sprays containing clotting factors can be used to stop the bleeding.
• Platelet transfusions: If your platelet count is low or your platelets aren't working properly, you may need a platelet transfusion to help your blood clot.

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Blood clotting disorders FAQs

Blood clotting disorders can be confusing. Your AHN care team is here to help answer your questions and provide resources to empower you to feel confident in your treatment plan. To get started, we’ve provided answers to some frequently asked questions our patients often have. This knowledge can help you prepare for conversations with your doctor.

What are the most common blood clotting disorders and conditions?

The most common blood clotting disorders depend on whether we're talking about disorders causing too much clotting (hypercoagulation) or disorders causing too much bleeding (bleeding disorders). Here's a breakdown:

• Hypercoagulation (too much clotting):
  • Deep vein thrombosis (DVT): Blood clots that form in the deep veins, usually in the legs.
    
  • Pulmonary embolism (PE): A blood clot that travels to the lungs, blocking blood flow. DVTs and PEs are often related and are sometimes called venous thromboembolism (VTE).
    
  • Factor V Leiden thrombophilia: An inherited condition that increases the risk of developing abnormal blood clots, most often in the legs or lungs.
    
  • Antiphospholipid syndrome (APS): An autoimmune disorder that increases the risk of blood clots.
    
• Bleeding disorders (too much bleeding):
  • Von Willebrand disease (VWD): The most common inherited bleeding disorder, caused by a deficiency or defect in von Willebrand factor, a protein that helps blood clot.
    
  • Hemophilia A and B: Inherited bleeding disorders caused by a deficiency in clotting factor VIII (Hemophilia A) or factor IX (hemophilia B).
    
  • Thrombocytopenia: A condition in which you have a low number of platelets (blood cells that help with clotting). This can be caused by various factors, including medications, autoimmune disorders, or infections.

What are the causes of blood clotting disorders?

The causes of blood clotting disorders are varied and depend on the specific disorder. Generally, they include:

• Inherited (genetic) factors: Some people inherit genes that make them more likely to develop blood clots or bleeding problems. Examples include Factor V Leiden, prothrombin gene mutation, hemophilia, and von Willebrand disease.
• Acquired factors: These are conditions or situations that develop during your lifetime that can affect your blood's ability to clot:
• Lifestyle factors: Prolonged immobility (e.g., long flights, bed rest), obesity, smoking, and birth control pills can increase the risk of blood clots.
• Medical conditions: Cancer, autoimmune disorders (like lupus), heart disease, and liver disease can affect blood clotting.
• Medications: Some medications, like certain cancer drugs or hormone therapies, can increase the risk of blood clots. Other medications, like aspirin or blood thinners, can increase the risk of bleeding.

Are blood clotting disorders curable?

Whether a blood clotting disorder is curable depends on the specific condition and its cause:

• Inherited disorders: Many inherited blood clotting disorders, like hemophilia or Factor V Leiden, are not curable in the sense that the genetic defect cannot be reversed. However, they can often be effectively managed with medication and lifestyle changes to prevent or treat clotting or bleeding episodes.
• Acquired disorders: Some acquired blood clotting disorders can be cured if the underlying cause is treated. For example, if a blood clotting problem is caused by a medication, stopping the medication may resolve the issue. If it's related to another medical condition, treating that condition may improve the blood clotting disorder. Your AHN care team can help determine if this is a possibility.

In some cases, even if a cure isn't possible, the symptoms and risks associated with a blood clotting disorder can be well-managed with ongoing treatment and monitoring.

How do you tell if you have a blood clotting disorder?

The signs and symptoms of a blood clotting disorder can vary depending on whether you have a condition that causes too much clotting or too much bleeding:

• Signs of too much clotting (hypercoagulation):
  • Symptoms of DVT: Pain, swelling, redness, and warmth in the leg.
  • Symptoms of PE: Sudden shortness of breath, chest pain (especially with breathing), rapid heart rate, coughing up blood. This requires immediate medical attention.
  • Other symptoms: Unexplained miscarriages, stroke, or heart attack at a young age.
• Signs of too much bleeding (bleeding disorders):
  • Easy bruising
  • Frequent or prolonged nosebleeds
  • Heavy menstrual periods
  • Bleeding gums
  • Prolonged bleeding after cuts, surgery, or dental work
  • Blood in the urine or stool
  • Joint pain and swelling caused by bleeding into the joints

If you experience any of these symptoms, it's important to talk to your doctor. They can perform blood tests and other evaluations to determine if you have a blood clotting disorder and recommend appropriate treatment.

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Contact us

Call the Division of Hematology and Cellular Therapy at 412-578-4484. We have anemia specialists available at AHN West Penn Hospital, Mellon Pavilion and AHN Allegheny General Hospital. Once scheduled, our staff will instruct you on what is needed so that our doctors get access to your medical records. 

We also provide telehealth services if you live far from our offices and would like to work with one of our hematologists.

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