During events and meetings within the hemophilia
community, one will often hear references made in regards to von
Willebrand Disease or commonly, vWD. You may think, “I know
a lot about hemophilia, but what is vWD?” Asking outright
is an option; however, it is sometimes difficult to approach people
you don’t know to question them about their medical condition.
Today, many people turn to the internet for medical and health information.
When vWD is entered into a search engine, more than a million hits
come up in less than two seconds. The information ranges from visual
web developers to veterinary studies involving vWD. When you are
just looking to understand the basics, the amount of information
available online can be overwhelming.
What exactly is von Willebrand Disease, where did
it get its name, what are the different types, how is it treated,
who has it, and how did they get it?
Discovery:
In 1926, von Willebrand Disease was first described by Erik Adolph
von Willebrand (1870-1949), a physician from Finland (Geil, 2007).
A medical case involving unexplained bleeding in a five-year-old
girl, who had lost four siblings due to bleeding, caught his attention.
After researching her family history, he found 23 of the 66 people
in the girl’s family were also affected by unexplained bleeding.
Defined:
Like hemophilia, vWD prevents blood clots from forming completely,
resulting in longer bleeding time. A defect of the von Willebrand
protein, and/or low levels of the protein cause the condition. The
vWD protein is also referred to as von Willebrand “Factor,”
or vWF. It does not cause a person to bleed faster. vWF is necessary
in the blood clotting process by actually performing two functions:
One is to help Factor VIII, another blood clotting protein, function
normally in producing a clot. The second is to bind platelets to
the injured blood vessel so that a platelet plug forms, which results
in clotting.
When a break occurs in a blood vessel and bleeding
starts, the vessels constrict. Each of 14 proteins is needed in
the blood clotting process in order to halt the bleeding. Although
the clotting proteins are numbered I through XIV (1 - 14), this
is not the order in which each does its job. vWF is attached to
Factor VIII. In a person with vWD, the development of the platelet
plug is incomplete, formation of a fibrin clot does not occur, and
so bleeding continues.
Incidence:
People from different ethnic and cultural backgrounds can have vWD.
It crosses all socio-economic lines and affects both males and females.
Women are more easily identified because they often have excessive
bleeding during their menstrual cycles and may have problems with
pregnancy and delivery. Almost three percent of people in the United
States have vWD (Geil, 2007), which makes it the most common inherited
bleeding disorder.
Types of vWD:
There are several types of vWD with severity levels ranging from
mild, to moderate, to severe. Unlike hemophilia, the severity of
vWD does not necessarily follow the chromosomes. In other words,
three patients in the same family can have three different levels
of severity. Also unlike hemophilia, the severity level within a
vWD patient may change throughout their life. For example, a mild
may change to a moderate, while a moderate may improve to a mild
level, or worsen to a severe level.
Type I is the most common form, affecting 80% of
vWD patients. Although the factor works properly, there is not enough
of it. Type II-a affects 10-12% of vWD patients. The structure and
function of the vWFactor is defective. Acquired vWD can develop
at any age. This happens when the immune system attacks and destroys
the vWF. When it occurs, it is usually seen in those with other
health issues involving the autoimmune system, such as rheumatoid
arthritis, systemic lupus, or with certain cancers (Geil, 2007).
Laboratory Tests:
Bleeding Time
Measures how long a cut on the skin takes to stop bleeding.
Factor VIII Activity
Measures the level of Factor VIII in the blood.
vWF:Antigen
Measures how much vWF protein is in the blood.
vWF Multimer Analysis
Examines the structure of vWF for abnormalities.
Ristocetin Cofactor Activity
Tests to see how well the vWF works.
Ristocetin-Induced Platelet Aggregation
Determines if the person’s blood has enough vWF to allow platelets
to aggregate (clump) together.
Symptoms:
The most common symptoms of vWD are frequent nosebleeds, bleeding
from gums, excessive and/or prolonged menstrual bleeding for women,
heavy or prolonged bleeding after surgery (including tooth extraction),
and easy bruising or large, unexplained bruising. Additional symptoms
may include excessive bleeding following childbirth or miscarriage,
and digestive or urinary tract bleeding.
Diagnosis:
For a diagnosis of vWD, blood needs to be drawn and several laboratory
tests are required; not only to properly diagnose the disorder,
but to also classify which type and the severity. It is important
to visit a hematologist with experience in the diagnosis and treatment
of vWD. In addition, it is just as important to have the lab work
drawn at a facility experienced in performing the necessary lab
tests because several of these tests require specially trained technicians
and the use of special equipment. In turn, this can add to the accuracy
of the lab results and can prevent receiving the wrong diagnosis.
Treatment:
vWD is often complicated to treat because it varies, not only from
patient to patient, but from one bleeding episode to the next. Minor
bleeding may require no treatment in a patient with mild vWD, but
the same patient having surgery may be prescribed desmopressin or
factor replacement. Women with heavy menstrual periods are sometimes
given oral estrogen (birth control pills) or Stimate® nasal
spray to help control the bleeding. For more severe joint and muscle
bleeds, factor replacement may also be necessary in addition to
RICE (rest the affected area, ice the affected area, compression
or immobilization and elevate above the level of the heart). Activity
restriction may be similar to patients with severe hemophilia (Geil.
2007).
Other treatments for vWD include topical products
that are applied directly to the area that is bleeding. UrgentQR®,
also known as QR Powder, is one such product. It works by creating
a “scab” over the cut. Aminocaproic acid, such as Amicar™,
is used for oral/mucosal bleeding. Amicar™ works to keep the
blood clot intact so that the wound can heal (Geil, 2007).
A hematologist may often refer a person with vWD
to another specialist. For example, a patient with an uncontrolled
or reoccurring nosebleed may have to see an ear, nose, throat doctor
(ENT) for nasal cauterization, or a female to a gynecologist for
correct hormonal management when menstrual bleeding is excessive.
In some cases, pain control medication may be necessary.
Anyone with a bleeding disorder should always avoid aspirin, which
destroys platelets. Whenever taking over-the-counter medications,
check the ingredients for aspirin, which may be listed as the generic
ingredient, acetylsalicylic acid, or ASA. If you are unsure, consult
with the pharmacist.
As with any bleeding disorder, the diagnosis of
vWD and the associated symptoms of excessive menstrual bleeding
can have serious psychological impact on the body image and self-esteem
of a developing young woman. Comprehensive Hemophilia Treatment
Centers have resources available to treat the wide-ranging needs
of individuals and families with vWD. Many resources, including
counseling have been helpful in developing effective coping skills
to manage life when living with a bleeding disorder (Kirtava, Drews,
Lally, Dilley, & Evatt, 2003).
The purpose of this article is to provide basic information
about vWD, its diagnosis, and available treatment options. If you
suspect that you or a loved one may have vWD, consult with your
physician. If necessary, ask for a referral to a qualified hematologist
for testing, diagnosis, and treatment. This article is intended
to be informative only; no medical advice should be assumed. Consult
with your health care professionals before making medical decisions
or changes in your lifestyle.
For additional information, resources, books, brochures
on von Willebrand Disease, or on Project Red Flag, (an organization
devoted to woman with bleeding disorders) visit the National Hemophilia
Foundation website at www.hemophilia.org or HANDI at 1-800-42HANDI.
References
Geil, J.D. (2007). Von Willebrand disease. eMedicine. Retrieved
on June 8, 2007 from the Internet at http://www.emedicine.com/ped/topic2419.htm
James, A. H., Ragni, M.V., Picozzi, V.J. (2006).
Bleeding disorders in premenopausal women: (Another) public health
crisis for hematology? Hematology American Society of Hemotology
Educational Program, 474-485. Retrieved from PubMed Database on
June 7, 2007
Kirtava, A., Drews, C., Lally, C., Dilley, A.,
& Evatt, B., (2003). Medical, reproductive, and psychosicial
experiences of women diagnosed with von Willebrand’s Disease
receiving care in a hemophilia treatment center. A case control
study. Hemophilia, 9(3), 292-297. Retrieved from PubMed Database
on June 7, 2007.
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