Bleeding Disorders

Bleeding disorders have been around for thousands of years.

According to the National Hemophilia Foundation (NHF), they
were mentioned as early as the second century AD in the Talmud, a
collection of Jewish Rabbinical writings. When someone has a
bleeding disorder, NHF says they usually have a defect in their
blood vessels, or abnormalities in the blood itself. For most of us,
tiny cells in our blood, called platelets, work together around an injury to help form a
clot over the wound. This, according to NHF, happens within seconds of the injury. In
people with bleeding disorders, problems with the platelets and/or the lack of certain
clotting factors can cause sufferers to bleed for a longer period of time. The cause can
be the result of inherited factors, as is the case with hemophilia or von Willebrand
Disease (see below) but there can be non-genetic causes too.

Non-genetic causes

For example, hemolytic uremic syndrome (HUS) is characterized by destruction of

red blood cells, damage to the lining of blood vessel walls, low platelet count and, in
severe cases, kidney failure. (Read about "Kidney Disease") Most cases of HUS occur
after an infection in the digestive system caused by the Escherichia coli bacterium
found on contaminated food like meat, dairy products and juice. (Read about "E.
Coli" "Food Safety") The National Institute of Diabetes and Digestive and Kidney
Diseases (NIDDK) says 90 percent of children with HUS who receive careful
supportive care survive past the initial stages of the condition, and most of those will
have no long-term effects. Immune Thrombocytopenic Purpura (ITP) is another
disorder of the blood. Antibodies, part of the immune system (Read about "The
Immune System"), attach to blood platelets and cause their destruction.
Thrombocytopenia refers to the condition in which there are not enough platelets,
leading to easy bruising and excessive bleeding. Purpura refers to the purplish-
looking areas of the skin and mucous membranes (such as the lining of the mouth)
where bleeding has occurred as a result of decreased platelets. NIDDK says some
cases of ITP are caused by drugs and others are associated with infection, pregnancy
or immune disorders such as systemic lupus erythematosus. (Read about "Lupus")
About half of all cases are classified as "idiopathic," meaning the cause is unknown.

Other non-genetic factors listed by NHF include some of the following as reasons for
bleeding disorders:

 vitamin K deficiency (Read about "Vitamins & Minerals")

 liver disease (Read about "The Liver" "Liver Cancer")
 various drugs such as aspirin and warfarin
 cancers such as leukemia (Read about "Leukemia")
 eclampsia as a result of pregnancy (Read about "Preeclampsia")
 snake venom

Bleeding problems can range from mild to severe, depending upon the reason and
how soon treatment begins.

Genetic causes
The three main types of bleeding disorders with a genetic connection are:

 hemophilia A
 hemophilia B
 von Willebrand Disease

Hemophilia, according to NHF, is a bleeding disorder caused by a lack of one of the

blood clotting factors. Hemophilia has often been called the "Royal Disease". It is
genetic in nature, being passed to sons by a mother who is a carrier of the defective
gene. Queen Victoria, who ruled England from 1837 to 1901, passed the gene on to
her daughters who then married into various European royal families.

One of Victoria's sons had hemophilia and died of a brain hemorrhage (Read about
"Stroke") at the age of 31. Through a granddaughter of Victoria, the only son of the
last Russian Czar was hemophilic.

The National Heart Lung and Blood Institute (NHLBI) estimates that there are about
20,000 hemophiliacs in the United States. It is thought that about 400 children are
born each year with the condition.

Hemophilia A

Hemophilia A is a hereditary disorder with a deficiency in the clotting factor VIII. The
end result is excessive and prolonged bleeding.

NHF says hemophilia A is the most common form of hemophilia:

 accounting for about 80 percent of all hemophilia cases

 occurring in 1 out of 10-thousand live male births
 mainly affecting men

Genetics

Hemophilia A, according to NHF, is caused by a defective gene. Mothers are the

carriers of the disease. About half of the male children of female carriers have the
disease and half of the female children of female carriers will be carriers. All female
children of fathers with the disease are carriers of the trait, according to NHF. People
with no family history (Read about "Family Health History") can also develop
hemophilia A. NHF says this accounts for a third of all cases. It usually happens after
a new or spontaneous gene mutation.

Symptoms

The severity of hemophilia A symptoms depends on the type of gene abnormalities

and how it affects the activity of factor VIII. People whose clotting activity is 5
percent of normal may have mild hemophilia. While they may rarely have bleeding
episodes, NHF says surgery or injury may lead to uncontrolled bleeding which can be
deadly.

NHF says symptoms of hemophilia A include:

  prolonged bleeding from cuts, surgery, and tooth extractions
 spontaneous bleeding
 bleeding into joints
 blood in stool or urine (Read about "Gastrointestinal Bleeding" "The Urinary
System")

NHF says recurring bleeding into joints and muscles can cause crippling deformities.
Bleeding can also swell the base of the tongue and block the airway. Even a slight
bump on the head can trigger substantial bleeding causing brain damage and even
death. (Read about "Head Injury")

Diagnosis

According to NHF, people with hemophilia A will usually experience their first
bleeding episode before they are 18 months old. A doctor may suspect the disease in a
child with unusual bleeding. Often, the diagnosis is made when an infant bleeds
excessively following his circumcision. (Read about "Circumcision") Blood tests can
determine whether clotting is slow. The severity of the disease can be determined by
measuring the percentage of factor VIII activity in the blood.

Treatment

Thanks to advances over the last 35 years, NHLBI says people with hemophilia can
lead a somewhat normal lifestyle with a normal life span. Hemophilia can now be
treated by infusing the missing clotting factor. In the 1970's factor VIII concentrate
products allowed people with hemophilia A to have home treatment, according to
NHLBI. The introduction of these products also largely put an end to the need for
transfusion of whole blood or plasma in the hospital.

NHF recommends hepatitis B vaccine (Read about "Hepatitis B") because of the
increase risk of exposure to hepatitis from frequent infusions of blood products. The
threat of being infected with HIV (Read about HIV in "HIV / AIDS") has also
diminished over the last two decades according to NHF, thanks to better screening of
donated blood. (Read about "Blood Donation Guidelines") In the past, NHF says mild
hemophilia A could also be treated with an infusion of cryoprecipitate or
desmopressin acetate (DDAVAP). The drugs would release the factor VIII that the
body has stored in the lining of its blood vessels. Today experts may recommend
desmopressin injection or nasal spray.

Hemophilia B

Hemophilia B, according to NHF, is caused by the deficiency of a blood clotting

factor known as factor IX. The disease is also known as Christmas disease; named
after Stephen Christmas, a British boy first diagnosed with the disorder. According to
NHF, hemophilia B is:

 a hereditary disease characterized by prolonged bleeding

 affects 1 out of about 35-thousand men
 less common than hemophilia A
Small wounds and injuries are not usually a problem for sufferers of hemophilia B.
However, uncontrolled internal bleeding can lead to permanent damage to joints and
muscles, according to NHF.

Genetics

Just like hemophilia A, hemophilia B is transmitted through the mother who is the
carrier of an inherited sex-linked recessive trait with the defective gene on the X
chromosome. Half of the male children of women who carry the trait will have the
disease, and half of the female offspring of female carriers will be carriers, according
to NHF. All female children of a father with hemophilia B will be carriers. Male
children of a father with hemophilia B will be completely unaffected.

Symptoms

The severity of the symptoms of hemophilia B depends on how the activity of factor
IX is affected, according to NHF. Severe forms of the disease will usually be evident
early. Prolonged bleeding typically is noticed when an infant is circumcised. Mild
cases, NHF says, may go unnoticed until later in life, perhaps after a surgery or
trauma. Symptoms according to NHF include:

 prolonged bleeding
 spontaneous bleeding
 blood in urine or stool
 hemorrhage in gastrointestinal and urinary tracts (Read about "The Urinary
System")
 nosebleeds
 bruising

Diagnosis

A child whose bleeding is unusual can undergo blood tests to find out if their clotting
ability is unusually slow, according to NHF. If that is the case, a doctor can determine
whether the disease is hemophilia B and how the activity of factor IX is affected.

Treatment

Infusing the missing clotting factor is the key to treating people with hemophilia B,
according to NHF. The amount depends on a number of factors including:

 size of the patient

 severity of bleeding
 location of bleeding

NHF says the hepatitis B vaccine is recommended for people with hemophilia B
because of exposure to blood products. However, advances over the last 20 years in
screening blood donors have increased the safety of blood products used to treat
hemophilia, according to NHLBI.
Plasma and plasma concentrates contain clotting factors and many can be used by
patients in their own homes. To prevent any crisis, NHF says factor IX concentrates
can be used at home at the first signs of bleeding. People with severe forms of the
disease may need as many as three infusions a week.

Cautions

NHF recommends that people with hemophilia avoid situations that might provoke
bleeding. They also need to avoid certain drugs that can aggravate bleeding such as:

 aspirin (Read about "Aspirin")

 warfarin
 heparin
 nonsteroidal anti-inflammatory medications

von Willebrand Disease

Named for the Finnish physician who first described the bleeding disorder, von
Willebrand disease is a hereditary deficiency of the von Willebrand factor in the
blood. The factor, according to NHF, is a protein that affects platelet function.
Platelets are tiny particles in the blood that join together at an injury to prepare for a
blood clot, according to NHF. When there is too little von Willebrand factor or the
factor is abnormal, the platelets don't gather properly. The end result is bleeding that
doesn't stop as quickly as it should, although it usually stops at some point. According
to NHF, von Willebrand disease:

 is the most common genetic disorder of platelet function

 occurs in 1 to 2 percent of the population
 affects men and women of all racial and ethnic groups

Variations of von Willebrand Disease

According to NHF there are many variations of von Willebrand disease including:

 Type I: Most common and mildest form of the disease. The von Willebrand
factor levels are lower than normal and factor VIII levels may also be low.
 Type II: The von Willebrand factor is abnormal.
 Type III: Severe von Willebrand disease. A total absence of von Willebrand
factor and low levels of factor VIII.
 Pseudo von Willebrand disease: Platelets are defective rather than the von
Willebrand factor.

Symptoms

NHF says von Willebrand disease can be traced through a family's history. (Read
about "Family Health History") Some members of a family will have symptoms while
others may just be carriers of the gene. Symptoms are as follows according to NHF:

 bruising
 recurrent nosebleeds
  heavy menstrual periods (Read about "Menstrual Disorders")
 longer than usual bleeding after routine surgery

Diagnosis

NHF says diagnosing von Willebrand disease can be somewhat challenging. Usually
someone who has the disease has a parent who had bleeding problems. When a
physician hears of the symptoms of von Willebrand disease, like nosebleeds, and easy
bruising, NHF recommends that testing be done to determine whether it's von
Willebrand disease. Testing may help discover if the number of platelets is normal but
bleeding time is prolonged.

Treatment

People with von Willebrand disease have many choices when it comes to treating
their disorder, according to NHF. Some people may never need any treatment. Others
can turn to infusions or even a nasal spray to deal with symptoms and prevention.

The National Hemophilia Foundation's Medical and Scientific Advisory Council

(MASAC) recommends the following:

 a nasal spray or injection of desmopressin acetate (DDAVP)

 viral-inactivated factor VIII preparations with von Willebrand factor

NHF says surgery is always a risk for people with the disease, as is menstruation,
pregnancy and childbirth for women diagnosed with von Willebrand disease. (Read
about "Childbirth" "Healthy Pregnancy") Hemorrhage could occur. Using aspirin and
any nonsteroidal anti-inflammatory can make matters worse, according to NHF.

Future for bleeding disorders

While treatments for bleeding disorders have become safer over the last 30 years,
there is still no cure for disorders like hemophilia and von Willebrand disease.
According to NHLBI, gene therapy would be the next major advance in treating
bleeding disorders. Studies continue on different viral and non-viral gene transfer
methods for the delivery of the factor VIII and factor IX gene. NHLBI says work is
ongoing with animal studies, but the promise of making the leap from animals to
humans could take time. Nevertheless, NHLBI says progress continues in hopes of
finding a cure.

Related Information:

Birth Defects

Blood Disorders Glossary