What is a Bleeding Disorder?

Bleeding disorders are a group of disorders that share the inability to form a proper blood clot. They are characterized by extended bleeding after injury, surgery, trauma or menstruation. Sometimes the bleeding is spontaneous, without a known or identifiable cause. Improper clotting can be caused by defects in blood components such as platelets and/or clotting proteins, also called clotting factors.

The body produces 13 clotting factors. If any of them are defective or deficient, blood clotting is affected; a mild, moderate or severe bleeding disorder can result.

Resource: National Hemophilia Foundation

Hemophilia and von Willebrand Disease

Hemophilia and von Willebrand disease (vWD) are the most common inherited bleeding disorders. They are caused by a lack of a specific clotting factors needed to control bleeding. Hemophilia is an inherited X-linked genetic condition that primarily affects males. Von Willebrand disease is a genetic disorder affecting both men and women, caused by a genetic change on the twelfth chromosome.

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Von Willebrands Disease video from NHF

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Bleeding Disorders

Hemophilia

Hemophilia is a genetic bleeding disorder that prevents the blood from clotting normally. Certain bleeding episodes, such as brain bleeding, may be life threatening. Hemophilia occurs primarily in males; however, a female may, on occasion, be affected. Woman who are carriers of hemophilia may have low factor VIII or IX activity, may be symptomatic and may be considered to have Hemophilia. They can often require the same factor replacement as males during trauma, surgery and child birth. All carriers of hemophilia should be tested before surgery and other medical procedures.

The two types of hemophilia are factor VIII deficiency, also known as hemophilia A, and factor IX deficiency (hemophilia B), or Christmas disease. The main symptom of hemophilia is uncontrolled bleeding, characteristically into muscles and joints. Repeated bleeding results in pain, swelling and, if left undertreated or untreated, causes permanent damage. There are three levels of severity: mild, moderate and severe. Individuals with mild hemophilia have prolonged bleeding usually only with surgery, tooth extraction, or major injuries. Individuals with moderate hemophilia may have internal bleeding into joints or muscles following relatively minor trauma, such as a sprain or hard fall. In severe hemophilia, bleeding episodes are more frequent. They can occur with no apparent injury or cause, in addition to prolonged bleeding with trauma and surgery. Bleeding can be as common as two or three times weekly for those severely affected and not on prophylactic therapy treatment. Frequent episodes are both painful and expensive.

While hemophilia is most commonly genetically inherited, approximately one third of all newly diagnosed cases occur in families with no prior history. Instead, the disorder results from a spontaneous genetic mutation. Hemophilia A, which accounts for 80% of all hemophilia patients, occurs in approximately 1 in 5,000 male births. Hemophilia B, accounts for 20% of all case and occurs in 1 out of every 10,000 male births. There are approximately 17,000 people with hemophilia in the United States. Of these, approximately 65% are classified as severe, 15% moderate, and 25% mild, depending upon the level of clotting factor (protein) found in their blood. The worldwide incidence of hemophilia is estimated at more than 400,000 people. Approximately 70% of people around the world do not have access to treatment. While treatment exists; it is costly and may require lifelong infusions of replacement clotting factor. Hemophilia is treated with blood and/or genetically engineered replacement therapies and can have an estimated cost for treatment at $300,000.00 yearly. Currently, there is no cure.

Von Willebrand Disease

Von Willebrand disease is also a genetic bleeding disorder that prevents the blood from clotting normally. It is caused by a deficient or defective blood protein known as von Willebrand factor. Although less widely known than hemophilia, von Willebrand disease (vWD) is estimated to affect over two million people in the U.S., and as many as 1 in 100 people. VWD is a milder disorder with fewer and less severe symptoms, although a severe form can occur. Of the three main types, type 1 (the mildest form of the disease) accounts for 70% of cases. Both males and females can have von Willebrand disease. Symptoms include frequent nosebleeds, a tendency to bruise easily, and excessive bleeding following surgery. With severe vWD, joint bleeding much like hemophilia can occur.

In women, the disease may also cause heavy, prolonged bleeding during menstruation and excessive bleeding following childbirth. It is often undiagnosed or incorrectly attributed to a gynecologic condition. Testing is extremely complicated for a correct diagnosis, which will often lead to a missed diagnosis. Surveys conducted by the Center for Disease Control have shown that on an average, it takes 16 years for a woman with a bleeding disorder to be diagnosed from the onset of symptoms.

Rare Bleeding Disorders

Rare bleeding disorders are deficiencies in clotting factor I, II, V, VII, X, XI and XIII. In general, these rare bleeding disorders are passed down in an autosomal recessive fashion, which means they affect men and women equally. This also means that when the factor deficiency is inherited from only one parent, the child will be a carrier of the condition, though he or she will usually not have symptoms. New mutations may also appear; in these cases, the family history will be negative.

Factor V deficiency occurs when people have low levels of factor V. Factor V helps a protein called thrombin form a stable clot to stop bleeding. Without thrombin, the body can’t form a stable clot. Factor V is inherited from both parents and occurs in 1 in every million individuals and can affect both men and women. Symptoms can include but are not limited to: bleeding from the mouth or nose, easily bruising and in women heavy menstrual bleeding, swelling and painful joints, bleeding after surgery or dental work and blood in the urine.

Factor VII deficiency is more common among the rare bleeding disorders. It occurs in 1 in every 300,000-5,000,000 people. People with factor VII deficiency have low levels of factor VII in their blood. Factor VII is needed to start the blood-clotting process and when it is low or missing, fibrin cannot be formed and blood clotting cannot begin. Factor VII is inherited for both parents and occurs equally in men and women. There are a wide range of symptoms depending on the severity of the deficiency.

Platelet Disorders

Our blood contains small, sticky cells called platelets. Platelets stick to blood vessels and try to block the bleeding upon an injury. They also send out a chemical signal that attracts other platelets. Those platelets stick to the platelets at the injury site to form a plug that stops the bleeding. Platelets sometimes do not work as they should and when that happens, a person has a platelet disorder.

Glanzmann Thrombasthenia occurs when a protein that helps platelets work properly is defective. Numerous proteins help platelet work properly. One of those is glycoprotein. These proteins work together like a bridge to connect platelets with each other. When they are defective or missing, platelets cannot form a plug to stop the bleeding. Glanzmann Thrombasthenia is inherited from both parents and can occur in both men and women. It is not well know how often Glanzmann Thrombasthenia occurs. Symptoms can include excessive bleeding after surgery or injury, easy bruising, swelling, painful joints, and in women, heavy menstruation.

Platelet Storage Pool Deficiency occurs when granules that help platelets carry signals from one end of a platelet to the other, do not work properly. This means platelets cannot form a plug to stop bleeding. There are different types of platelet storage pool deficiency. Sometimes, there are not enough granules to send the signal and other times there are enough, but they cannot be put together correctly. The platelet disorder can happen in men and women depending on the type of deficiency and is inherited from one or both parents. The prevalence of platelet storage pool deficiency is not well known. Symptoms can be easy bruising, bleeding from the nose or gums, heavy menstrual bleeding and excessive bleeding after surgery or injury.

Gray platelet syndrome (GPS) is a rare inherited bleeding disorder which results from the absence or reduction of alpha-granules in platelets which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. About 60 cases from various populations around the world have been described in literature to date. GPS is caused by a gene mutations and inherited in an autosomal recessive manner. Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds.

Women with Bleeding Disorders

Women also have bleeding disorders like males. However, many healthcare providers are not aware of the prevalence of bleeding disorders in females. Women can be affected by several different bleeding disorders such a von Willebrand Disease (vWD); platelet defects; Hemophilia A,B,C; and other more rare clotting disorders, as well as disorders involving the fibrinolytic system. The prevalence of bleeding disorders in females is unknown.

Although rare, cases of severe Hemophilia A and B are found in women. Either the women inherited a hemophilia gene from both her mother who is a carrier and her father who has hemophilia, or she is a genotypic carrier who has experienced extreme lyonization of the hemophilia gene, causing the women’s normal gene for the production of Factor VIII or IX to be “turned off”. Women who have moderate to severe hemophilia will have the same bleeding symptoms as males with the added features of gynecological and obstetrics complications.

References:

For additional information on women with bleeding disorders:

Foundation for Women & Girls with Blood Disorders
Victory for Women with Blood Disorders
Blood Sisterhood - Hemophilia Federation of America