What Is von Willebrand Disease?
Von Willebrand disease (VWD) is an inherited
bleeding disorder. It affects your blood's ability to clot. If your blood
doesn't clot, you can have heavy, hard-to-stop bleeding after an injury. The
bleeding can damage your internal organs or even be life threatening, although
this is rare.
In VWD, you either have low levels of a certain
protein in your blood, or the protein doesn't work the way it should. The
protein is called von Willebrand factor, and it helps the blood clot.
Normally, when one of your blood vessels is injured,
you start to bleed. Small blood cells called platelets (PLATE-lets) clump
together to plug the hole in the blood vessel and stop the bleeding. Von
Willebrand factor acts like glue to help the platelets stick together and form
a blood clot.
Von Willebrand factor also carries clotting factor
VIII (8), another important protein that helps your blood clot. Factor VIII is
the protein that's inactive or missing in
hemophilia, another clotting
disorder.
VWD is more common and usually milder than
hemophilia. In fact, VWD is the most common of all the inherited bleeding
disorders. It occurs in about 1 out of every 100 to 1,000 people. VWD affects
both males and females, while hemophilia mainly affects males.
Types of von Willebrand Disease
There are three major types of VWD.
Type 1
In type 1 VWD, you have a low level of the von
Willebrand factor, and you may have lower levels of factor VIII than normal.
This is the mildest and most common form of the disease. About 3 out of 4
people who have VWD have type 1.
Type 2
In type 2 VWD, the von Willebrand factor
doesnt work the way it's supposed to. Type 2 is divided into subtypes:
2A, 2B, 2M, and 2N. Different gene mutations cause each type, and each is
treated differently. This makes knowing the exact type of VWD that you have
very important.
Type 3
In type 3 VWD, you usually have no von Willebrand
factor and low levels of factor VIII. Type 3 is the most serious form of
VWD, but its very rare.
Overview
Most people with VWD have type 1, a mild form. This
type usually doesn't cause life-threatening bleeding, and you may need
treatment only if you have surgery, tooth extraction, or trauma. If you need
treatment, medicines and medical therapies are used.
Some people with severe forms of VWD need to seek
emergency treatment to stop bleeding before it becomes life threatening.
Early diagnosis is important. With the right
treatment plan, even people with type 3 VWD can be helped to live normal,
active lives.
What Causes von Willebrand Disease?
Von Willebrand disease (VWD) is almost always
inherited. Your parents pass the gene for the disease on to you. You can
inherit type 1 or type 2 VWD when only one of your parents passes the gene on
to you. You usually inherit type 3 VWD only if both of your parents pass the
gene on to you. Your symptoms may be different from your parents
symptoms.
Some people carry the genes for the disease but
dont have symptoms. They still can pass the disease on to their
children.
Some people develop a form of VWD later in life as a
result of other medical conditions. This form of VWD is called acquired von
Willebrand syndrome.
What Are the Signs and Symptoms of von Willebrand
Disease?
The signs and symptoms of von Willebrand disease
(VWD) depend on the type and severity of the disease. Many people have such
mild symptoms that they dont know they have the disorder.
If you have type 1 or type 2 VWD, you may have the
following mild-to-moderate bleeding symptoms:
- Frequent large bruises from minor bumps or
injuries
- Frequent or hard to stop nosebleeds
- Extended bleeding from the gums after a dental
procedure
- Heavy or extended menstrual bleeding in women
- Blood in your stools from bleeding in your
intestines or stomach
- Blood in your urine from bleeding in your kidneys
or bladder
- Heavy bleeding after a cut or other accident
- Heavy bleeding after surgery
People with type 3 VWD may have all of the symptoms
listed above, as well as severe bleeding episodes for no reason. These bleeding
episodes can be life threatening if not treated right away. They also may have
bleeding into soft tissues or joints, causing severe pain and swelling.
Heavy menstrual bleeding is often the main symptom
of VWD for women. Doctors call this menorrhagia (men-o-RA-je-a). They define it
as:
- Bleeding with clots larger than about 1-inch in
diameter
- Anemia
or low blood iron
- The need to change pads or tampons more than
every hour
However, just because a woman has heavy menstrual
bleeding doesnt mean she has VWD.
How Is von Willebrand Disease Diagnosed?
Early diagnosis of von Willebrand disease (VWD) is
important to make sure that youre treated and can live a normal, active
life.
VWD is sometimes difficult to diagnose. People with
type 1 or type 2 VWD may not have major bleeding problems. As a result, they
may not be diagnosed until they have heavy bleeding after surgery or some other
trauma.
On the other hand, type 3 VWD can cause major
bleeding problems during infancy and childhood. As a result, children with type
3 VWD are usually diagnosed during their first year of life.
To find out if you have VWD, your doctor will review
your medical history and the results from a physical exam and tests.
Medical History
Your doctor will likely ask questions about your
medical history and your familys medical history. He or she may ask
about:
- Any bleeding from a small wound that lasted more
than 15 minutes or started up again within the first 7 days following the
injury.
- Any extended, heavy, or repeated bleeding that
required medical attention after surgery or dental extractions.
- Any bruising with little or no apparent trauma,
especially if you could feel a lump under the bruise.
- Any nosebleeds that occurred for no apparent
reason and lasted more than 10 minutes despite pressure on the nose, or any
nosebleeds that needed medical attention.
- Any blood in your stools for no apparent
reason.
- Any heavy menstrual bleeding (for women). This
bleeding usually involves clots or lasts longer than 7 to 10 days.
- Any history of muscle or joint bleeding.
- Any medicines you've taken that might cause
bleeding or increase the risk of bleeding. For example, aspirin and other
nonsteroidal anti-inflammatory drugs (NSAIDs), clopidogrel
(Plavix®), warfarin, or heparin.
- Any history of liver or kidney disease, blood or
bone marrow disease, or high or low blood platelet counts.
Physical Exam
The doctor also will do a physical exam to look for
unusual bruising or other signs of recent bleeding. He or she also will look
for evidence of liver disease or
anemia.
Diagnostic Tests
No single test can diagnose VWD. Your doctor will
order a combination of blood tests to diagnose the disease. These tests may
include:
- Von Willebrand factor antigen. This test measures
the amount of von Willebrand factor in your blood.
- Von Willebrand factor ristocetin
(ris-toe-SEE-tin) cofactor activity. This test shows how well the von
Willebrand factor works.
- Factor VIII clotting activity. Some people with
VWD have low levels of factor VIII activity, while others have normal levels.
- Von Willebrand factor multimers. This test is
done if one or more of the first three tests are abnormal. It shows the makeup
or structure of the von Willebrand factor. It helps your doctor diagnose what
type of VWD you have.
- Platelet function test. This test measures how
well your platelets are working.
Your doctor may order these tests more than once to
confirm the diagnosis. He or she may also refer you to a hematologist (a doctor
who specializes in treating blood diseases) to confirm the diagnosis and for
followup care.
How Is von Willebrand Disease Treated?
Your doctor will decide what treatment you need
based on the type of von Willebrand disease (VWD) you have and how severe it
is. Most cases of VWD are mild, and you may need treatment only if you have
surgery, tooth extraction, or an accident.
Medicines are used to:
- Increase the release of von Willebrand factor
and factor VIII into the bloodstream
- Replace von Willebrand factor
- Prevent the breakdown of clots
- Control heavy menstrual bleeding in women
Specific Treatments
- Desmopressin (DDAVP) is a synthetic hormone that
you usually take by injection or nasal spray. It makes your body release more
von Willebrand factor and factor VIII into your bloodstream. DDAVP works for
most patients who have type 1 VWD and for some who have type 2 VWD.
- Von Willebrand factor replacement therapy is an
infusion of a concentrate of von Willebrand factor and factor VIII into a vein
in your arm. This treatment can be used if you:
- Cant take DDAVP or need extended
treatment
- Have type 1 VWD that doesnt respond to
DDAVP
- Have type 2 or type 3 VWD
- Antifibrinolytic drugs help prevent the breakdown
of blood clots. Theyre mostly used to stop bleeding after minor surgery,
tooth extraction, or an injury. They may be used alone or together with DDAVP
and replacement therapy.
- Fibrin glue is medicine thats placed
directly on a wound to stop the bleeding.
Treatments for Women
Treatments for women who have VWD with heavy
menstrual bleeding include:
- Combined oral contraceptives (birth control
pills). The hormones in these pills can increase the amount of von Willebrand
factor and factor VIII in your bloodstream and reduce menstrual blood loss.
Theyre the most recommended birth control method for women with VWD.
- A levonorgestrel intrauterine device. This is a
contraceptive device that contains progestin. Its placed in the uterus
(womb).
- Aminocaproic acid or tranexamic acid. These
antifibrinolytic drugs can reduce bleeding by slowing the breakdown of blood
clots.
- DDAVP.
For some women who are done having children or
dont want children, endometrial ablation is performed. This procedure
destroys the lining of the uterus. It has been shown to reduce menstrual blood
loss in women with VWD.
If you need a hysterectomy (surgical removal of the
uterus) for another reason, this procedure will stop menstrual bleeding and
possibly improve your quality of life. However, hysterectomy carries its own
risk of bleeding complications.
Living With von Willebrand Disease
Preventing bleeding and staying healthy are
important if you have von Willebrand disease (VWD). You should:
- Avoid over-the-counter medicines that can affect
blood clotting, including aspirin, ibuprofen, and other nonsteroidal
anti-inflammatory drugs (NSAIDs).
- Always check with your doctor before taking any
medicines.
- Tell your doctor, dentist, and pharmacist if you
have VWD. Your dentist can talk to your doctor about whether you need medicine
before dental work to reduce bleeding. You also should tell people like your
employee health nurse, gym trainer, and sports coach about your condition.
- Consider wearing a medical ID bracelet or
necklace if you have a serious form of VWD (for example, type 3). In case of a
serious accident or injury, the health care team treating you will know that
you have VWD.
- Exercise regularly and maintain a healthy weight.
Exercise helps keep muscles flexible. It also helps prevent damage to muscles
and joints. Always stretch before exercising.
Some safe exercises or activities are swimming,
biking, and walking. Football, hockey, wrestling, and lifting heavy weights are
not safe activities if you have bleeding problems. Always check with your
doctor before starting any exercise program.
Since your parents, brothers and sisters, and
children may also have von Willebrand disease, you should consider telling them
about your diagnosis and suggesting that they get tested.
Pregnancy and von Willebrand Disease
Pregnancy can be a challenge for women who have VWD.
Although blood levels of von Willebrand factor and factor VIII tend to increase
during pregnancy, women with VWD can have bleeding complications during
delivery. They also are likely to have heavy bleeding for an extended period
after delivery.
However, there are things you can do to reduce the
chances of complications during pregnancy. Consult a hematologist and an
obstetrician who specialize in high-risk pregnancies before you become
pregnant.
Consider using a center that specializes in
high-risk obstetrics and has a hematologist on the staff for prenatal care and
delivery.
Before you have any invasive procedure, such as
amniocentesis, ask your doctor whether anything needs to be done to prevent
serious blood loss.
During your third trimester, you should have blood
tests to measure von Willebrand factor and factor VIII to help plan for
delivery.
You also should meet with an anesthesiologist to
review your choices for anesthesia and to discuss taking medicine to reduce
your bleeding risk.
With these precautions, most women with VWD can have
successful pregnancies.
Children and von Willebrand Disease
If your child has von Willebrand disease thats
severe enough to pose a significant risk of bleeding, anyone who is responsible
for him or her should be told about the condition.
For example, the school nurse, teacher, daycare
provider, coach, or any leader of afterschool activities should know,
particularly if your child has one of the more severe forms of VWD. This
information will help them handle the situation if your child has an injury.
Key Points
- Von Willebrand disease (VWD) is an inherited
bleeding disorder. It affects your blood's ability to clot. This can cause
heavy, hard-to-stop bleeding after an injury.
- In VWD, you either have low levels of a certain
protein in your blood or the protein doesn't work the way it should. The
protein is called von Willebrand factor. Von Willebrand factor also carries
factor VIII.
- There are three major types of VWD: type 1, type
2, and type 3.
- VWD is almost always inherited. Parents pass the
gene for the disease on to their children.
- The signs and symptoms of VWD depend on the type
and severity of the disease. Many people have such mild symptoms that don't
know they have the disease.
- Symptoms include frequent large bruises from
minor bumps or injuries; frequent or hard to stop nosebleeds; heavy bleeding
after surgery, dental work, or a cut or other accident; heavy or extended
menstrual bleeding in women; blood in your stools or urine; or bleeding in your
internal organs and joints.
- VWD is sometimes difficult to diagnose. Many
people don't have major bleeding and aren't diagnosed until they have heavy
bleeding after surgery or some other trauma.
- To find out if you have VWD, your doctor will
review your medical history and the results from a physical exam and tests.
Early diagnosis is important to make sure you're treated and can live a normal,
active life.
- Treatments for VWD include medicines and
therapies to replace or increase the amount of von Willebrand factor in your
blood, prevent the breakdown of clots, and control heavy menstrual bleeding in
women.
- Women with VWD also may be treated with oral
contraceptives, intrauterine devices, or a procedure that destroys the lining
of the uterus, thus reducing menstrual blood loss.
- Preventing bleeding and staying healthy are
important for people with VWD. Avoid over-the-counter medicines that can affect
blood clotting; always check with your doctor before taking any medicines; wear
a medical ID bracelet if you have a serious form of VWD; and alert people like
your dentist, pharmacist, employee health nurse, gym trainer, and sports coach
of your condition.
- Pregnancy can be a challenge for women who have
VWD. Consult a hematologist and an obstetrician who specialize in high-risk
pregnancies before you become pregnant.
- If your child has VWD that’s severe enough
to pose a significant risk of bleeding, anyone who is responsible for him or
her should be told about the condition. This will help them handle the
situation if your child has an injury.
- VWD can't be cured, but it can be treated. With
the right treatment, people who have VWD can lead normal, active lives.
Links to Other Information About von Willebrand
Disease
NHLBI Resources
Non-NHLBI Resources
Clinical Trials
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