Rare Factor Deficiencies Treated at Karmanos

Treatment of Rare Factor Deficiencies

What are rare factor deficiencies?

In the U.S., a rare disease is defined as one that affects fewer than 200,000 people. Rare factor deficiencies were only identified within the past 60 to 70 years.

These conditions involve deficiencies in clotting factors I, II, V, VII, X, XI, XII, and XIII, and can lead to excessive and spontaneous bleeding. Factor XIII deficiency is the rarest, affecting approximately 1 out of 5 million people. Factor XI deficiency is the most common rare factor disorder, affecting about 1 in 100,000 people.

Types of rare factor deficiencies

• Factor I (fibrinogen) deficiency involves fibrinogen, a protein that helps platelets stick together and form a clot after injury. It is passed down in an autosomal recessive pattern, meaning a child must inherit the altered gene from both parents.
• Factor II (prothrombin) deficiency occurs when the body produces too little of the blood-clotting protein called factor II (prothrombin), or when the protein does not function properly. Inherited factor II deficiency follows an autosomal recessive pattern. However, it can also be acquired.
• Factor V deficiency, also known as Owren disease or parahemophilia, only affects 1 in 1 million people. This disorder can be inherited or acquired. Factor V deficiency occurs when the body produces too little of factor V or when the protein does not function properly. Severe cases may result in bleeding in the brain (intracranial hemorrhage), lungs, or gastrointestinal tract. Acquired factor V deficiency is less common than inherited factor V deficiency.
• Factor VII deficiency, also known as Labile Factor or proconvertin deficiency, is one of the most common of the rare bleeding disorders, affecting about 1 in 500,000 people. Low levels or poor function of factor VII can delay clotting and increase bleeding. The severity of symptoms may depend on the diagnosis. People with mild symptoms may not be diagnosed until later in adulthood. Factor VII deficiency can be inherited from both parents or acquired.
• Factor X deficiency, also known as the Stuart-Prower factor, affects 1 in 1 million people. This deficiency can be inherited, with symptoms appearing in infancy or early childhood, or acquired.
• Factor XI deficiency, also called Hemophilia C or Rosenthal syndrome, is typically associated with mild bleeding problems. Most cases are inherited, but acquired forms can also occur.
• Factor XII deficiency, also known as Hageman factor deficiency, affects 1 in 1 million people. It is passed down in an autosomal recessive pattern. Although factor XII plays a role in clotting, it is not essential for normal blood clotting. Most individuals with this deficiency do not experience abnormal bleeding or clinical symptoms. It can also be acquired later in life.
• Factor XIII deficiency, also known as fibrin-stabilizing factor deficiency, is the rarest clotting factor deficiency, occurring in about 1 in every 5 million births. It is inherited in an autosomal recessive pattern. Factor XIII is the clotting factor that works to make the clot strong and stable. Without enough functional factor XIII, clots may form but break down too quickly. This condition may be underdiagnosed because symptoms often appear only after significant bleeding.

Causes of rare factor deficiencies

Rare factor deficiencies are most often caused by inherited autosomal recessive genetic mutations. This means that both parents must carry a genetic mutation. Acquired factor deficiencies can develop later in life because of certain antibiotics, malignancies, infections, liver disease, blood cell disorders, nephrotic syndrome, sepsis, disseminated intravascular coagulation, protein disorders, vitamin K deficiency, autoimmune disease, blood-thinning medications, or exposure to bovine thrombin.

Signs and symptoms of rare factor deficiencies

The common signs and symptoms of rare factor deficiencies vary depending on the type and severity of the condition. Some of the most common symptoms include:

• Bleeding in the muscles, joints or under the skin.
• Delayed wound healing.
• Easy bruising.
• Excessive bleeding after surgery, injury or dental work.
• Excessive bleeding from the umbilical cord at birth.
• Frequent and unexplained nosebleeds, including nosebleeds that last longer than 10 minutes.
• Internal bleeding (in the GI tract, muscles or joints).
• Intracranial bleeding.
• Menorrhagia (heavy and prolonged menstrual bleeding).
• Nose, gum and mouth bleeds.
• Recurrent miscarriages.
• Soft tissue bleeding and bruising.
• Spontaneous bleeding.
• Swollen or painful joints.

How are rare factor deficiencies diagnosed?

Your health care provider may assess symptoms and discuss family history. Providers may check for rare factor deficiencies to assess how effectively the blood clots. These tests may include one or more of the following:

• Prothrombin time (PT/INR): Measures how quickly the blood forms clots based on prothrombin.
• Partial thromboplastin time (PTT): Assesses the clotting time based on the action of clotting factors.
• Specific factor assays: Measures the exact activity level of the suspected factor in the blood.

Treatment options for rare factor deficiencies

Rare factor deficiencies are treated depending on the specific missing protein. Some treatments focus on replacing the missing clotting factor, while others focus on replenishing fresh frozen plasma, which slows the breakdown of blood clots. Some cases of rare factor deficiencies do not require treatment.

Information about rare factor deficiencies, causes, risk factors, diagnosis and treatment.