Disease ( Hemophilia )

The standard treatment of hemophilia today isfactor replacement by intravenous Infusion. The medication is supplied in two vials, one containing the dried blood clotting protein the other sterile water for reconstitution. These are mixed and generally infused at home. There are about 15 different products available.

Some “Milds” use an inhaled hormone product called Stimate® that causes Factor VIII stored in the body to be released into the bloodstream. “Severes” can not use Stimate® because they have no stored factor.

Some people with hemophilia use an oral product for mouth bleeds called Amicar®.

Infusions

Infants to 2 Years - This time can be very Stressful. Boy, do I know! Baby’s and Infant’s veins are small and difficult to hit. Crying and tears from both parents and child and struggles all combine to create a difficult situation. Most parents either take the child to an ER or have a nurse come to the house to do the infusion. That is what we did. We had a nurse that would come over and do the infusions when our boys were infants.

Age 2 – 10 - It gets better. Parents learn how to infuse at home and your child's veins become larger. Amazingly, toddlers begin to hold still for their ”shot”. It is a good idea to give rewards for behaving.

Age 8 – 10 - Your child will learn to self infuse, usually at special hemophilia summer camps. It is a proud moment when your child “sticks” himself for the first time. I still remember the day when my son, Tanner, came home from camp after having “stuck” himself! ;-)

Some people, especially children with hemophilia use a numbing cream called Emla Cream® to numb an area before infusing.

Frequency of Infusions

Since the mid 1990’s , Prophylaxis or "Prophy," as it is commonly called, has become the standard treatment of hemophilia for people with severe and some with moderate hemophilia. Instead of infusing just when they have an injury that causes a prolonged bleeding time, people on prophy infuse 3 times a week in order to keep a sustainable amount of factor in their system.

They continue their treatment of hemophilia by keeping this preventative schedule (prophy) instead of waiting for an injury to happen. This way, except for the infusions, usually they can lead a pretty normal life without too much worrying.

When the do get injured, the doctor may require that they infuse daily for a few days or more depending on the severity of the injury and then return to their prophy schedule.

The treatment of hemophilia for most “Milds” and some “Moderates” is to infuse “as needed.” This is also referred to as infusing “episodically”. The prescription (script) will read “PRN” which means "as needed" if this is the case.

Using a Port

Some parents opt for an implantable device called a “Port” (see below) for easier venous access. We tried that too, but had problems with infection. I have heard that many people are extremely happy with theirs. I even know adults that continue to use a port.

Ports are implanted devices that allow access directly into the vein. They are usually used in babies and infants needing regular infusions. Some people love them and keep them for many years. Some people’s bodies do not seem to accept them and they become problematic. Blood infections (sepsis) can be dangerous.

Types of Ports

External involve tubing that extends outside the body usually exiting the arm or chest creating bathing and swimming issues. Sometimes babies pull them out.

Internal are placed completely under the skin. No bathing or swimming issues but a needle must be used thru the skin to access them.

Some names include: Broviac®, Port-A-Cath®, Hickman®, PICC® line.

Treatment of hemophilia options are best discussed with your doctor.

Von Willebrand's Disease (VWD) is a bleeding disease similar to Hemophilia that affects both males and females equally. Von Willebrand Factor is a protein discovered by Dr. Von Willebrand. It circulates attached to Factor VIII. It is necessary to form a clot. Type 1 (VWD) is widely undiagnosed and may affect up to 2% of the population.

Symptoms

• frequent nose bleeds
• easy bruising
• bleeding from the gums when baby teeth fall out or after tooth extractions
• heavy bleeding during menstruation (menorrhagia)
• menstrual bleeding that lasts longer than 7 days.
• bleeding into the stomach or intestine (gut).

Many people with (VWD) do not notice anything is wrong. They realize they have a bleeding problem only when another person in the family is diagnosed with (VWD) or they have a serious injury or surgery.

Types

Type 1 - Low levels of Von Willebrand Factor. Usually Mild. Affects 70- 80% of people with Von Willebrand's Disease

Type 2 - Normal levels of Von Willebrand Factor but defective. Can by severe. Affects 15-30% of people with Von Willebrand's Disease

Type 3 - No Von Willebrand Factor. Always severe. The rarest of the Von Willebrand diseases.

Treatment

Type 1’s & some Type 2’s use an inhaled hormone product called Stimate® that causes stored Von Willebrand Factor to be released into the bloodstream. It is well tolerated by most patients but can cause headaches, flushing and increased pulse.

Some Type 2’s and all Type 3’s infuse Factor. They must use Humate®-P because it contains Von Willebrand Factor. Manufacturers are working on a non plasma derived factor product that contains Von Willebrand Factor.

Types of Hemophilia and other bleeding disorders

Hempophilia A or classic hemophilia: A person with this type of hemophilia has low levels of or is completely missing factor 8 (Also called FVIII or factor VIII deficiency) 80% of people with hemophilia have Type A Hemophilia. Factor VIII deficiency usually manifests in males.

In about 30% of cases, there is no family history of this bleeding disorder and it is just a spontaneous genetic mutation. About 1 in 5,000 males born in the United States has hemophilia. All economic groups and races are affected equally.

Hemophilia B: This person has low levels of or is completely missing factor 9 (Also called FIX or factor IX deficiency) 20% of people with hemophilia have Type B Hemophilia. Factor IX deficiency usually manifests in males.

Hemophilia B was originally called "Christmas Disease" when it was first diagnosed in 1952. About 30% of cases of Hemophilia B are caused by spontaneous genetic mutation.

Hemophilia B is much less common than Hemophilia A. It occurs in about 1 in 25,000 male births, and affects about 3,300 individuals in the United States. All races and economic groups are affected equally.

Hemophilia C: This person has low levels of or is missing completely factor 11 (Also called FXI or factor XI deficiency) Hemophilia C is 10 times more rare than type A. Factor XI deficiency is different because it can show up in both males and females.

Von Willebrands Disease: A bleeding disease similar to Hemophilia that affects both males and females equally. It is caused by a deficiency of a blood clotting protein called Von Willebrand factor. Von Willebrand factor circulates attached to factor VIII and is necessary to form a clot.

Von Willebrands Disease occurs in 1 - 2% of the population. It is a genetic bleeding disorder that can be inherited from either parent, unlike hemophilia. It affects males and females equally.

Von Willebrand Disease can be difficult to diagnose. A blood clotting test can be performed to measure the amount and characteristics of von Willebrand Factor. Because levels can vary, sometimes a blood clotting test may need to be repeated. A person who might have von Willebrand Disease should be referred to a hematologist who specializes in diagnosing and treating bleeding disorders.

Three levels of Hemophilia severity

Severe 0% - 1% factor level. About 80% of hemophilia sufferers are considered severe. Severe hemophilia sufferers will have excessive bleeding after injuries, surgery and can also have spontaneous bleeding episodes. They can also have joint bleeding and prolonged bleeding into the muscles, sometime times without the person's knowledge. Joint bleeding can cause joint deterioration and arthritis down the road.

Moderate 1% - 5% factor level. About 10% of hemophilia sufferers are considered moderate. Moderate sufferers may have spontaneous bleeding episodes and will probably have prolonged bleeding after injuries.

Mild 5% - 50% factor level. About 10% of hemophilia sufferers are considered mild. These people have prolonged bleeding after a serious injury, trauma or surgery. In many cases, mild hemophilia is not discovered until there is excessive bleeding after a surgery or injury. In fact, it may not even be discovered until adulthood.

What is Hemophilia? Hemophilia is an inherited bleeding disorder that almost always affects males. A person with hemophilia has low or non-existent levels of blood clotting protein called factor. Coagulation factor is necessary for the clotting mechanism in our bodies to work.

There are 13 blood clotting proteins (coagulation factor) along with platelets and fibrin necessary for clotting blood. These 13 blood clotting proteins normally combine to form a clot. If one factor is missing or present at low levels, this causes blood clotting problems and a proper clot will not form.

Types of Hemophilia and other bleeding disorders

Hemophilia A: This person has low levels of or is missing completely factor 8 (Also called FVIII or factor VIII deficiency) 80% of people with hemophilia have Type A Hemophilia. Factor VIII deficiency usually only manifests in males.

Hemophilia B: This person has low levels of or is missing completely factor 9 (Also called FIX or factor IX deficiency) 20% of people with hemophilia have Type B Hemophilia. Factor IX deficiency usually only manifests in males.

Hemophilia C: This person has low levels of or is missing completely factor 11 (Also called FXI or factor XI deficiency) Hemophilia C is 10 times rarer than type A. Factor XI deficiency is different because it can show up in both males and females.

Von Willebrands Disease: a bleeding disease similar to Hemophilia that affects both males and females equally. Von Willebrand factor circulates attached to factor VIII and is necessary to form a clot.

What is Hemophilia severity?

Severe 0% - 1% factor level. About 80% of hemophilia sufferers are considered severe.
Moderate 1% - 5% factor level. About 10% of hemophilia sufferers are considered moderate.
Mild 5% - 50% factor level. About 10% of hemophilia sufferers are considered mild.

Severity levels do not change, as in get better or worse. These levels are genetic and tend to run the same in a given family. "Normal" levels of clotting protein are 50 - 150%.

Note: Severity levels are just a benchmark. Many people with hemophilia have bleeding patterns that reflect the severity level above or below the actual diagnosis. It is believed that this is caused by how well all the other components of the blood clotting cascade are working.

What is Hemophilia Treatment?

Hemophilia is a life-long inherited bleeding disorder. However, since the mid 1990s , prophylaxis or "Prophy," as it is commonly called, has become the standard hemophilia treatment for people with severe and moderate hemophilia. Instead of infusing just when they have a prolonged bleeding time, people on prophy infuse 3 times a week in order to keep a sustainable amount of factor in their system.

In the whole history of hemophilia, the Jews were first to recognize it. They enacted a law that if a women had two sons that died from circumcision her third son would not be required to be circumcised. This shows that they recognized that women carried the hemophilia gene and passed it down to their sons.

The hemophilia blood disorder became known as the royal disease because Queen Victoria was a carrier and passed the carrier status down to many of her daughters. In those days the royal families of many of the nations of Europe would marry into each others families.

This caused several generations of royalty to become affected by the hemophilia gene. The most famous being Alexei son of Alexandra and Nicholas, Czar of Russia. Nicholas and Alexandra were pre-occupied by the health problems of their son at a time when Russia was in turmoil.

The monk Rasputin gained great influence in the Russian court, partly because he was the only one able to help the young Tsarevich. He used hypnosis to relieve Alexei's pain. The use of hypnosis not only relieved pain, but may have also helped slow or stop the boy's hemorrhages. The illness of the heir to the Tsar's throne, the strain it placed on the Royal family, and the power wielded by the mad monk Rasputin were all factors leading to the Russian Revolution of 1917.

Treatment History of Hemophilia

Early 1900s - Fresh blood could be transfused after a sufficient amount was lost. Usually family members would rally to the aid of the child with hemophilia and donate blood on site. Blood storage was not practible at that time. Life expectancy for people with hemophilia was 13 years although some lived longer.

1950s - Plasma became available although it did not contain enough of the needed factor.

1965 - Cryoprecipitate “Cryo” improves treatment a bit. Basically “Cryo” was what settled to the bottom of a bag of plasma. It contained more of the needed factor.It was then frozen and infused, a long hospital procedure.

1970s - Factor concentrates become available.

1980s - Factor concentrates infect 80% of the people with hemophilia in the U.S with HIV, many have since passed away.

1985 - First viral inactivated factor products become available.

1992 - First non plasma derived factor becomes available using recombinant dna technology.

1995 - “Prophy” becomes the standard of treatment in the U.S. Instead of waiting for prolonged bleeding to occur, factor is taken regularly to prevent bleeding and increase quality of life.