VON WILLEBRAND DISEASE

INTRODUCTION -

Von Willebrand disease (vWD) is the most common hereditary blood-clotting disorder in
humans. An acquired form can sometimes result from other medical conditions.[1] It arises from
a deficiency in the quality or quantity of von Willebrand factor (vWF), a multimeric protein that
is required for platelet adhesion. As well as humans, it is known to affect several breeds of dogs.
The three forms of vWD are: hereditary, acquired, and pseudo or platelet type. The three types of
hereditary vWD are: vWD type 1, vWD type 2, and vWD type 3. Type 2 contains various
subtypes.[2] Platelet type vWD is also an inherited condition.[3] In 2008 a new diagnostic
category of "Low VWF" was proposed to include those individuals whose Von Willebrand
Factor levels were below the normal reference range but not low enough to be Von Willebrand
Disease (levels in the 30-50 IU/dL range).

Patients with Low VWF can experience bleeding, despite mild reductions in VWF levels.vWD
type 1 is the most common type of the disorder, with mild bleeding symptoms such as
nosebleeds and occasionally more severe symptoms can occur. Blood type can affect the
presentation and severity of symptoms of vWD.

DEFINITION –

A genetic blood disorder marked by prolonged, excessive, or abnormal bleeding that commonly
results in recurrent nosebleeds, heavy menstrual flow, and bleeding from the gums, is caused by
deficient or defective von Willebrand factor, and typically occurs in a mild form that is less
serious than hemophilia

NOTE: Von Willebrand disease is inherited chiefly as an autosomal dominant trait in which only
one parent must pass on a copy of the defective gene on a chromosome other than a sex
chromosome.
CAUSES-

Von Willebrand disease is almost always inherited. “Inherited” means that the disorder is passed
from parents to children though genes.

You can inherit type 1 or type 2 von Willebrand disease if only one of your parents passes the
gene on to you. You usually inherit type 3 von Willebrand disease only if both of your parents
pass the gene on to you. Your symptoms may be different from your parents’ symptoms.

Some people have the genes for the disorder but don’t have symptoms. However, they still can
pass the genes on to their children.

Some people get von Willebrand disease later in life as a result of other medical conditions. This
type of von Willebrand disease is called acquired von Willebrand syndrome.

Mutations in the VWF gene cause von Willebrand disease. The VWF gene provides instructions
for making a blood clotting protein called von Willebrand factor, which is essential for the
formation of blood clots. After an injury, clots protect the body by sealing off damaged blood
vessels and preventing further blood loss. Von Willebrand factor acts as a glue to hold blood
clots together and prevents the breakdown of other blood clotting proteins. If von Willebrand
factor does not function normally or too little of the protein is available, blood clots cannot form
properly. Abnormally slow blood clotting causes the prolonged bleeding episodes seen in von
Willebrand disease.

The three types of von Willebrand disease are based upon the amount of von Willebrand factor
that is produced. Mutations in the VWF gene that reduce the amount of von Willebrand factor
cause type 1 von Willebrand disease. People with type 1 have varying amounts of von
Willebrand factor in their bloodstream. Some people with a mild case of type 1 never experience
a prolonged bleeding episode. Mutations that disrupt the function of von Willebrand factor cause
the four subtypes of type 2 von Willebrand disease. People with type 2 von Willebrand disease
have bleeding episodes of varying severity depending on the extent of von Willebrand factor
dysfunction, but the bleeding episodes are typically similar to those seen in type 1. Mutations
that result in an abnormally short, nonfunctional von Willebrand factor generally cause type 3
von Willebrand disease. Because there is no functional protein, people with type 3 von
Willebrand disease usually have severe bleeding episodes.
Treatment

Von Willebrand disease is a permanent condition with no cure, treatment can assist prevent or
stop bleeding incidents. Your strategy depends on:

The type and severity of your condition of the Von Willebrand disease.

How you’ve responded to earlier treatment.

Your other medications and health conditions.

Your physician may suggest one or more of the subsequent treatments increase your von
Willebrand factor, encourage blood clots or, in women, check heavy menstrual bleeding:

Desmopressin- This remedy is available as an injection known as DDAVP or nasal spray

(Stimate). It’s a synthetic hormone, alike to the natural hormone vasopressin. It restrains
bleeding by exciting your body to deliver more von Willebrand factor already deposited in the
lining of the blood vessels. DDAVP is ordinarily efficient in people with type 1 and remarkable
subtypes of type 2 disease of Von Willebrand Disease.

Many physicians consider DDAVP the first approach to use in the management of von
Willebrand disease. Some women use the nasal spray at the start of their menstrual periods to
manage excessive bleeding. It can also be useful when applied before a minor surgical
procedure.

Replacement therapies- include infusions of prepared doses of concentrated blood-clotting

factors comprising von Willebrand factor and factor VIII. These treatments can be useful for all
disease types. Your physician may suggest them if DDAVP isn’t an option for you or was
incapable.

Another replacement treatment approved by the FDA for managing adults 18 and older is a
genetically superintended (recombinant) von Willebrand factor product (Vonvendi). Because
recombinant factor is obtained without plasma, it may decrease the risk of a viral infection or
allergic response.

Contraceptives-For females, these can be beneficial for controlling heavy bleeding throughout
menstrual periods. The estrogen hormones present in birth control pills can increase levels of von
Willebrand factor and factor VIII action. This result is likely available with birth control
applications, though further study is required to confirm it.

Clot-stabilizing medications- Anti-fibrinolytic remedies — such as tranexamic acid

(Cyklokapron, Lysteda, others) and aminocaproic acid (Amicar) — can help check to bleed by
slowing the breakdown of blood clots. Physicians often prescribe these drugs before or following
a surgical procedure or tooth removal.

Drugs applied to cuts- A fibrin sealant also known as the Tisseel VHSD, placed straight on a cut
helps curtail bleeding. These items are applied like glue using syringes