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What is a Bleeding Disorder?

When a person has a bleeding disorder his/her blood doesn't clot normally. This is caused by insufficient amounts of clotting factor – a protein that works with platelets to help blood clot. Each person's blood contains many different types of clotting factors and the absence of any of these can result in a bleeding disorder.

A bleeding disorder can cause a person to bleed for longer than normal following an injury. They may also experience spontaneous bleeding in joints, muscles or other parts of their bodies. This bleeding can damage organs and tissue and may be life threatening.

Types of Bleeding Disorders

Hemophilia

About 1 in 10,000 people are born with hemophilia, an inherited condition that affects mainly males. Hemophilia causes a person to bleed for a longer time than normal. The most common type of hemophilia is type A which occurs when a person doesn't have enough clotting factor eight. Hemophilia type B is less common and is caused by low amounts of clotting factor nine.

Symptoms

Symptoms of hemophilia types A and B include:

  • Large bruises
  • Bleeding into muscles and joints
  • Spontaneous bleeding in the body for no apparent reason
  • Prolonged bleeding following a cut, dental extraction or surgery
  • Bleeding for a long time following an accident

Diagnosis

  • Hemophilia is diagnosed using:
  • Personal and family histories
  • Physical exams
  • Blood tests that determine how long it takes for blood to clot and whether a person has low levels or missing clotting factor eight (for type A) or nine (for type B)
  • Chorionic villus sampling or fetal blood sampling can be used to diagnose a fetus in-utero if the mother is a known carrier of hemophilia

Treatment

The main treatment for hemophilia is replacement therapy. During this treatment, the patient receives the appropriate clotting factor an injection or intravenous drip. Replacement therapy may be given on a regular (preventative) basis, or it may be used as needed to stop bleeding when it occurs.

Other treatments for hemophilia may include:

  • Desmopressin
  • Antifibrinolytic medicines
  • Gene therapy
  • Pain medication
  • Steroids
  • Physical therapy

Von Willebrand Disease (VWD)

This is the most common of the bleeding disorders, affecting 1% of the population. Men and women with VWD have a problem with a protein in their blood called von Willebrand factor (VWF) which helps the blood to clot. Generally, these individuals experience symptoms that are mild and many don't know that they have a disorder until there is a serious injury or need for surgery. There are three types of VWD:

  • Type 1: Lower than normal levels of VWF and generally mild symptoms
  • Type 2: Moderate symptoms due to a defect in the VWF structure that causes it to not work properly
  • Type 3: Little or no VWF is present causing severe symptoms including bleeding into muscles and joints, sometimes without injury

Symptoms

Many people with VWD have few or no symptoms. When symptoms do occur, they are more prominent in women than men and can include:

  • Bruising easily
  • Frequent of prolonged nose bleeds
  • Bleeding from the gums
  • Prolonged bleeding from minor cuts
  • Heavy or prolonged menstrual bleeding (in women)
  • Bleeding in the upper and lower gastrointestinal tract
  • Prolonged bleeding following injury, surgery, dental work
  • Prolonged bleeding in women following childbirth

Diagnosis

VWD is not easy to diagnose and often requires the assistance of a hematologist who specializes in bleeding disorders. Tools used to diagnose VWD include:

  • Personal and family histories
  • Physical exams
  • Blood tests that measure a person's VWF level and activity, as well as the amount of clotting factor eight in their blood

Treatment

The primary treatment for VWD is a man-made hormone called desmopressin which is administered through an injection or nasal spray. Desmopressin causes the body to release more VWF into the blood stream and is effective for people with VWD types 1 and 2. Replacement therapy is used for those who can't take - or don't respond to – desmopressin, or who have VWD types 2 or 3. During replacement therapy, the individual receives concentrated VWF through injection or intravenous drip.

Other treatments for VWD may include:

  • Antifibrinolytic medicines
  • Fibrin glue
  • Birth control pills or devices (for women with heavy menstrual bleeding)
  • Endometrial ablation or hysterectomy (for women who have finished having children)


Rare Clotting Factor Deficiencies

This is a group of inherited bleeding disorders caused by a problem with one or several clotting factors. Less is known about these disorders because they are diagnosed so rarely.

What is Thrombosis?

Thrombosis is the presence of a blood clot in a blood vessel. This is a condition that can cause serious complications or death if not diagnosed and treated. Thrombosis can be caused by a genetic predisposition or defect, or other factors including:

  • Surgery
  • Hormonal contraceptives
  • Pregnancy
  • Long periods of inactivity or immobility
  • A medical condition (such as cancer or inflammatory bowel disease)
  • Obesity
  • Old age
  • Inherited clotting disorder

While there can be many types of thrombosis, the ones that are most commonly seen by the Penn Comprehensive Hemophilia and Thrombosis Program are deep vein thrombosis and pulmonary embolism.

Deep Vein Thrombosis (DVT)

DVT occurs when a blood clot forms in a deep vein – usually in the lower leg, thigh and pelvis. The most serious complication of DVT is when a clot breaks loose and travels through the bloodstream to the lungs, causing a pulmonary embolism. DVT can also cause high blood pressure in the veins (venous hypertension), leg pain, skin ulceration and impaired mobility.

Symptoms

Only about half of the people with DVT experience symptoms. The following are the most common symptoms of DVT that occur in the affected part of the body:

  • Swelling
  • Pain
  • Tenderness
  • Redness of the skin

Diagnosis

Deep vein thrombosis is diagnosed using the following:

  • Duplex ultrasound - Evaluates the flow of blood in the veins using sound waves
  • Venography - A type of X ray that can be used to determine if a clot is present
  • D-dimer - A blood test that can rule out a clot
  • Magnetic Resonance Imaging (MRI)
  • Computerized tomography (CT) scan

Treatment

Medication is the primary treatment for preventing and treating DVT. Compression stockings are sometimes recommended to prevent DVT and relieve pain and swelling. In severe cases the clot may be removed surgically.


Pulmonary Embolism (PE)

PE occurs when a blood clot in the vein breaks loose and travels into the lungs where it obstructs the blood vessels and reduces or prevents blood flow to the lungs. This can result in heart failure or sudden death if left untreated.

Symptoms

A person with any of the following symptoms of pulmonary embolism should seek medical attention immediately:

  • Difficulty breathing
  • Faster than normal or irregular heart beat
  • Chest pain or discomfort which worsens with a deep breath or coughing
  • Anxiety
  • Coughing up blood
  • Very low blood pressure, lightheadedness or fainting

Diagnosis

Pulmonary embolism is diagnosed using:

  • Computerized tomography (CT) scan
  • Pulmonary ventilation or perfusion scan – Looks at how the lung is working and whether it is getting enough blood
  • Pulmonary angiogram – Helps identify clots in the lung using contrast (dye) and an X ray

Treatment

A PE requires immediate medical attention for treatment. In life-threatening cases, thrombolytic medications are used to dissolve the clot. Blood thinning medications may be prescribed to prevent more clots from forming.

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