About Bleeding Disorders

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What are Bleeding Disorders?

A bleeding disorder is a general term used to describe a wide range of medical problems leading to poor blood clotting and abnormal bleeding. When someone has a bleeding disorder, they tend to bleed longer. They do not bleed harder or faster than a person without a bleeding disorder. Small cuts or surface bruises are usually not a problem. More traumatic injuries can result in life-threatening bleeds and crippling deformities of the joints.

What is a Clotting Cascade?

The body initiates the clotting cascade when an injury occurs. At a high level, coagulation works as follows:

Blood vessels constrict – When an injury occurs, the blood vessel at the site of injury contracts to limit the flow of blood to the damaged area.

Platelet plug forms – Within seconds of the injury occurring, small cells found in the blood, called platelets, spread on top of the injured vessel and release chemical signals to attract other cells circulating in the blood. Some of the cells attracted are clotting factors. The first factor to be activated during the clotting cascade is the von Willebrand factor. The vWf is a glue-like protein that forms a plug that prevents blood from flowing to the site of injury.

Fibrin clot is created – Thirteen clotting factors (I-XIII) along with calcium, vitamin K and other proteins work together in a series of complex chemical reactions to form a fibrin clot. The fibrin clot acts as a net over the wound. Depending on the size of the injury, the fibrin clot strengthens over several days or weeks, and when the wound is healed, the fibrin clot dissolves.

If any of the steps in the clotting cascade don’t work properly or are deficient, the person bleeds longer and, therefore, has a bleeding disorder. The type and severity of the disorder is determined based on the protein that is missing from the blood and how much of it is missing.

What is a Clotting Cascade?

The body initiates the clotting cascade when an injury occurs. At a high level, coagulation works as follows:

Blood vessels constrict – When an injury occurs, the blood vessel at the site of injury contracts to limit the flow of blood to the damaged area.

What is Hemophilia?

Hemophilia is an inherited bleeding disorder which causes the blood to not clot properly. Hemophilia is very rare. Currently, about 20,000 males in the United States have the disorder. Blood contains many proteins called clotting factors that help to stop bleeding. People with hemophilia have either a low level of these clotting factors or none at all.

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What is von Willebrand Disease?

von Willebrand Disease (vWD) is the most common bleeding disorder, found in approximately 1% of the U.S. population. vWD is a blood disorder in which the blood does not clot properly. Blood contains many proteins that help the body stop bleeding. One of these proteins is called von Willebrand factor (vWF). People with vWD either have a low level of vWF in their blood or the vWF protein doesn’t work the way it should.

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What about rare clotting factor deficiencies?

Rare clotting factor deficiencies are disorders in which one of several clotting factors is missing or not working properly. Less is known about these disorders because they are diagnosed so rarely. In fact, many have only been discovered in the last 40 years.

What are inherited platelet function disorders?

These are conditions in which platelets don’t work the way they should, resulting in a tendency to bleed or bruise.

What are inhibitors?

In about 10 – 15% of people with hemophilia, the immune system produces an antibody (called an inhibitor) that destroys the clotting factor before it stops the bleeding. It is unclear as to why this happens. People with inhibitors experience much higher treatment costs than those who don’t develop this complication.

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How do genetics influence bleeding disorders?

Hemophilia is a genetic disorder, which means it’s the result of a change in genes that was either inherited (passed on from parent to child) or occurrend during development in the womb. Hemophilia affects mostly boys – about 1 in every 5,000-10,000 is born with hemophilia. Girls are more rarely affected. vWD affects boys and girls equally.

What are Symptom of Bleeding Disorders?

A person with hemophilia can bleed internally or outside the body. People with hemophilia do not bleed more than people without hemophilia, they just bleed longer. The most common types of bleeds are into the joints and muscles.

Other symptoms include, but are not limited to:

Bleeding in the kidneys or bladder, leading to blood in the urine.
Bleeding in the intestines or stomach, leading to blood in the stool.
Bleeding in the large muscles of the body, leading to large bruises.
Bleeding in the joints, leading to joint tightness, swelling, and pain.
Bleeding in the brain, leading to headaches, neck pain, vomiting, changes in behavior and agility, double vision, or seizures. Brain bleeds are very serious and very dangerous.

External bleeding:

Bleeding in the mouth from gum abrasion, cuts, bites, or losing a tooth.
Unexplained nosebleeds.
Heavy and excessive bleeding from small or minor breaks in the skin.
Bleeding that starts and stops for a longer period of time than expected.

Who is Affected by Bleeding Disorders?

About 20,000 people in the United States have hemophilia, while approximately 1.4 million Americans have von Willebrand disease. All ethnic and socioeconomic groups are affected by bleeding disorders.

How are Bleeding Disorders Treated?

There is no cure for hemophilia or von Willebrand disease. Clotting factor replacement therapy which involves the intravenous infusion (i.e. injection) of blood clotting products, enables those with bleeding disorders to lead normal and productive lives. Infusions must be given as soon as possible after the start of bleeding or taken regularly (as prophylaxis) to prevent uncontrolled bleeding. Mild von Willebrand disease may also be treated with an intranasal medicine. The average cost for treating hemophilia is about $60,000 annually, but some may need hundreds of thousands of dollars worth of treatment every year. There are no generic substitutes for these treatments.

Where do People with Hemophilia Receive Medical Care?

According to the Center for Disease Control, 70% of people with hemophilia receive care from Hemophilia Treatment Centers staffed with doctors, nurses, and social workers. HTC’s servicing Maryland patients are the Johns Hopkins Hemophilia Treatment Center, Children’s National Medical Center Hemophilia Treatment Center (DC) and Georgetown Hemophilia Treatment Center (DC). Mortality rates and hospitalization rates for bleeding complications from hemophilia were 40% lower among people who received care in Hemophilia Treatment Centers than among those who did not receive this care. Others may receive care from their primary care physician or a local hematologist.

Where do People with Hemophilia Receive their “Medication”?

People with hemophilia either get their “medication,” i.e. factor, through a 340B pharmacy at their Hemophilia Treatment Center or through a Specialty Pharmacy Company. Specialty Pharmacy Companies are staffed with pharmacists and nurses who not only provide factor, but like HTC’s, ensure patients have the proper supplies, know how to self-infuse at home, and provide a variety of services and information they need to maintain good health. There are almost a dozen pharmaceuticals that manufacture clotting factor. Representatives from these also provide information and support to patients with bleeding disorders.