What is Hemophilia?

Hemophilia is a hereditary disorder in which one of the proteins that causes blood to clot is missing, reduced or does not function adequately, which leads to a delay or disruption in blood clotting and results in prolonged bleeding.

Types of Hemophilia

The two most common types of hemophilia are Factor VIII and Factor IX Deficiency. Factor VIII Deficiency also is called classic hemophilia or hemophilia A. Factor IX Deficiency is often known as Christmas disease or hemophilia B. Hemophilia occurs in about one of every 5,000 males born in the United States. About 80 percent of persons with hemophilia have Factor VIII Deficiency. Blood tests are needed to tell the difference in types of hemophilia as the bleeding patterns, signs and symptoms are identical. However, the type of treatment to stop bleeding depends upon the type of hemophilia.

Causes of Hemophilia

The first two steps in clotting work normally for persons with hemophilia. However, persons with hemophilia do not have enough of one of the clotting factors needed to make fibrin strands. Without the fibrin strands, a firm clot does not form. Bleeding will only temporarily stop since the clot easily dissolves.

Severity and Symptoms

Persons with hemophilia do not bleed any faster than persons without a bleeding disorder. Generally external bleeding (cuts, scrapes) does not cause any problems. In children, bleeding is closely related to the stages of development and to physical activity. For babies and toddlers, the most common sites of bleeding are the mouth and head. Older children and adults often have bleeding into joints and muscles, especially the knees, ankles and elbows. While the most common bleeding in hemophilia is not life threatening, bleeding in a few places of the body is very dangerous. Examples of life-threatening bleeds are bleeds into the head, neck, spinal cord or stomach/intestines.

Treatment

There is no cure for hemophilia at this time. The current treatment is to replace the missing clotting factor in the blood by injecting intravenously (into a vein) products containing concentrated amounts of the missing clotting factor. Clotting factor is now given "prophylactically" to prevent bleeding.

What is von Willebrand Disease?

von Willebrand Disease is the most common of all inherited bleeding disorders. It is caused by a deficiency in von Willebrand factor, a clotting protein.

von Willebrand Factor is a glue-like "adhesive" protein that carries and protects Factor VIII in the bloodstream. It also helps platelets stick to the blood vessel walls at the injury site. When there is not enough von Willebrand factor or when von Willebrand factor does not work correctly, a person has von Willebrand Disease.

This disease is characterized by prolonged bleeding after surgery or trauma. In severe cases, the prolonged bleeding may occur without a known injury. Von Willebrand Disease is diagnosed with a detailed patient and family history and blood tests. These tests are sensitive to monthly hormonal changes, stress, medications and exercise; therefore, sometimes the tests must be repeated for accuracy.

Treatment of von Willebrand Disease

There are effective treatments for bleeding related to von Willebrand Disease. The type of treatment depends on the individual’s type and severity of von Willebrand disease and the specific bleeding problems. A variety of medications can be given to stop an active bleed or to prevent bleeding from happening during surgery or other invasive procedures.  For more severe von Willebrand’s Disease, there are preparations of von Willebrand factor that are given intravenously. Milder forms of the disease often respond to DDAVP (desmopressin acetate) which can be given either intravenously or as a nose spray. Birth control pills are usually the best treatment of choice for bleeding related to heavy menstrual periods. An antifibrinolytic medication is often used in conjunction with the above medications to help stop or prevent bleeding. This medication is especially helpful in controlling bleeding in the mouth, often associated with dental work.

Female Bleeding Disorders

The diagnosis of bleeding disorders in females is often met with surprise. Many people think that females do not have bleeding disorders. It is true that one type of inherited bleeding disorders called hemophilia mainly affects males. However, a number of other bleeding disorders affect both females and males. Moreover, some women who carry the gene for hemophilia may have bleeding symptoms even though they do not have the disease. Many of these bleeding disorders have only been identified in the past 30 to 40 years.

Symptoms and Diagnosis

Females with bleeding disorders often have gynecological symptoms, in addition to easy bruising, nose bleeds, gum bleeds or bleeding with injury or surgery. About 1/5 of females with prolonged, excessive menstrual bleeding actually have an inherited bleeding disorder. Other women bleed between cycles or continuously through the month. Because the uterus is capable of losing a great deal of blood in a short period of time, females with these symptoms may have low iron levels. Additionally, prolonged bleeding after delivery of a child also may be a symptom of bleeding disorders in women.

Diagnosis of a bleeding disorder is sometimes delayed for females who do not have a family member with a known bleeding disorder. The use of birth control pills and other hormone therapies can affect the testing for some inherited bleeding disorders such as von Willebrand Disease. Additionally, some girls with bleeding disorders may ask other female family members about their symptoms. Since the disease is inherited and often unrecognized, family members may reassure the girl by telling them "it’s normal for our family to have very heavy periods." Unfortunately, undiagnosed bleeding problems may lead to surgical treatment such as a hysterectomy that may not be the best treatment of the bleeding problem.

Treatment and Care

Several types of bleeding disorders affect females, and the treatment depends on the exact type of disorder and the type of bleeding. The treatment may involve replacing the missing clotting protein, such as von Willebrand factor, by infusion of a blood product. In other cases, natural or synthetic hormone replacement and other oral medications may control the bleeding.

What are Storage Pool Deficiencies?

Storage Pool Deficiencies are a group of disorders caused by problems with platelet granules. Granules are little sacs inside the platelet in which proteins and other chemicals important to its function are stored. There are two types of granules: alpha granules and dense granules. 

Some storage pool deficiencies are caused by a lack of granules, but the most common ones are caused by a failure of the platelets to empty the contents of the granules into the bloodstream (this is called the secretory or release mechanism). 

Delta Storage Pool Deficiency is a platelet function disorder caused by a lack of dense granules and the chemicals normally stored inside them. Without these chemicals, platelets are not activated properly and the injured blood vessel does not constrict to help stop bleeding. This type of bleeding problem can be a feature of other inherited conditions (such as Hermansky-Pudlake syndrome and Chediak-Higashi syndrome). 

Grey Platelet Syndrome is a very rare platelet function disorder caused by a lack of alpha granules and the chemicals normally stored inside them. Without these proteins, platelets can not stick to the blood vessel wall, clump together the way they should, or repair the injured blood vessel. 

Symptoms

Symptoms of storage pool deficiencies vary from one individual to the next, but they are usually mild to moderate. People with this condition may experience:

• Easy bruising
• Nose bleeds
• Bleeding from gums
• Heavy or prolonged menstrual bleeding or bleeding after childbirth
• Abnormal bleeding after surgery, circumcision, or dental work

Diagnosis

The diagnosis of storage pool deficiencies requires a careful medical history and a series of tests that should be performed by a specialist at a hemophilia treatment center. These tests look at the way platelets clump together (platelet aggregation) and the presence of granules under an electron microscope.  

Treatment

Most people with storage pool deficiencies only need treatment during surgical procedures (including dental work) and after injury or trauma. When needed, storage pool deficiencies may be treated with:

• antifibrinolytic drugs (such as Amicar)
• Desmopressin (may not be useful in alpha granule deficiency)
• platelet transfusions

General Precautions

People with these conditions should not take Aspirin, nonsteroidal anti-inflammatory drugs (such as ibuprofen and naproxen), and blood thinners, which can make their bleeding symptoms worse. 

Please inform our treatment center before any surgeries, dental work, other invasive procedures, or in the event of trauma. 

 

Acquired Bleeding Disorders

Acquired bleeding disorders are conditions that were not present at birth but lead to unusual or uncontrolled bleeding. Such disorders include Acquired von Willebrand Disease, Acquired platelet function disorders, and Acquired Coagulation Factor Inhibitors. These disorders usually are associated with another disease, such as cancer, systemic lupus erythematosus, diabetes, disorders of the vascular or connective tissue system, chronic renal failure, liver disease, and many others.

 

Thrombophilia

What is Thrombophilia?

Thrombophilia is a term used to describe a group of conditions leading to an increased tendency to develop dangerous blood clotting in veins or arteries. These conditions can be divided into two types: 1) those present at birth (congenital or inherited) or 2) those that may occur as the result of another condition (acquired).

What is a Clot?

The blood clotting system is activated when a blood vessel is injured. Platelets circulating near by the “first responders.” Platelets stick to the injured vessel wall and recruit more platelets to the site. This clumping or aggregation of platelets forms a temporary plug that protects the vessel wall from further bleeding. At the same time, proteins are activated to make a tissue glue called fibrin. Fibrin is laid down at the site of the platelet plug, making it secure. Over time, scar tissue forms to complete the healing process.

What Keeps Blood from Clotting?

The clotting process is very efficient, ensuring that haphazard clotting does not occur throughout the blood stream. Blood plasma contains many proteins that either inhibit the formation of a clot or dissolve the clot by breaking down the fibrin. Thus, a delicate balance of clotting and bleeding results. This allows blood clots to form appropriately to injury to the vessel wall and to breakdown the clot when it is no longer needed.

Where do Clots Occur?

Clots may occur in either the venous system (veins that deliver blood to the heart) or the arterial system (the system that delivers blood from the heart to the tissues). Symptoms of a blood clot depend upon the part of the vascular system in which they occur, the extent of the clot and whether the clot breaks away from the vessel wall and travels to another part of the body. 

What Conditions Can Lead to Acquired Thrombophilia?

Many conditions increase the risk for developing a dangerous clot. These include physiological factors (surgery, increased age, bed rest, obesity, pregnancy), medications (birth control pills, some cancer medications) and other diseases (cancer, diabetes, systemic lupus). These risk factors are cumulative, meaning that multiple conditions that could lead to inappropriate clotting provide a greater risk of thrombosis.

What are the Types of Inherited Thrombophilias?

Certain genetic mutations have been associated with increased risk of bleeding. These include Factor V Leiden (resistance to Protein C), Protein C deficiency, Protein S deficiency, Antithrombin III deficiency, Prothrombin 20210 mutation (elevated prothrombin levels) and Homocystinuria. Presence of the inherited predisposition alone seems to only be a small risk for certain families. However, the presence of an additional acquired risk factor (mentioned above) poses a greater risk for dangerous clot formation.   

What Kinds of Treatment are Available?

Individuals with thrombophilia may receive medications that affect the coagulation system. One class of medications decreases the person’s ability to make a clot. These include aspirin, heparin, low molecular weight heparin and coumadin. Another class of medications called thrombolytic agents is used to dissolve clots under certain circumstances. Individuals with thrombophilia may receive these medications only during a time of increased risk of thrombosis or for a prolonged period of time, even a lifetime.