Bleeding Disorders

Articles

Mar 1

Our blood can affect practically every function in the body. Typically, bleeding disorders involve blood clotting so it is important to understand and address bleeding disorders in the proper way during the process of coagulation (blood clotting). Some individuals have an imbalance in their clotting process: On one side of the spectrum, blood may clot too easily, but others may bleed and experience a lack of coagulation. Depending on the conditions present in a specific individual, treatment and management varies.

Causes of Bleeding Disorders

Bleeding disorders can occur at birth, can be due to genetic proclivity, or can occur later in life. The most common cause of bleeding disorders in inherited at birth from either one or both parents. Often, bleeding disorders can come as a surprising diagnosis because other family members may exhibit symptoms, but others may not. Since genetic abnormalities can develop at any point in your family history, a sudden development of a bleeding disorder is not uncommon.

Types of Bleeding Disorders

Hemophilia

While hemophilia is widely known, it is actually a rare disease. There are only approximately 20,000 individuals in the US with hemophilia. In this disorder, individuals tend to bleed for a longer duration than typical individuals. Mild cases of hemophilia may go unnoticed and only present issues during things like surgery or major injury. Those with moderate hemophilia are more likely to be diagnosed during childhood or at birth. Injuries that are minor in nature such as a thump to the knee present more problems in moderate cases. Severe cases of hemophilia will likely include spontaneous bleeding in the body. Because bleeding in some areas of the body, such as the head or throat, are life-threatening, management of this disorder is necessary for severe cases. The reason those with hemophilia bleed is due to a lack of a factor involved in blood clotting. Blood requires multiple factors (proteins) to allow it to clot properly. If just one is missing or deficient, clotting will not proceed with ease.

Hemophilia A

Often referred to as “classic” hemophilia, type A is related to the factor VIII gene. The clotting process is delayed due to a lack of factor VIII production and the process is disrupted. Because hemophilia A is carried through the X chromosome, fathers cannot pass the gene onto their sons but are guaranteed to pass it to their daughters.

Hemophilia B

The factor IX gene is involved in hemophilia B. The mutation that occurs in factor IX results in a deficiency of that factor, thus disrupting the clotting process. As with type A, hemophilia B is carried on the X chromosome and has the same implications of inheritance.

Hemophilia C

Also called Rosenthal Syndrome, hemophilia C is more rare than other types of hemophilia. Symptoms of this type can vary from mild to severe. Some individuals will not need to address the disorder except in cases of surgery or injury. Hemophilia C occurs not through the X chromosome and can be caused by a spontaneous mutation or can be inherited from both parents. This disorder is a result of a deficiency in factor XI, which delays or prevents the clotting process from proceeding.

Factor VII

As the most common form of hemophilia, factor VII can be inherited from both parents. Individuals with factor VII often experience nosebleeds, gum bleeding, and bruise easily. In cases of severe factor VII, individuals can experience bleeding in the muscles or within the skin. Babies are typically diagnosed with factor VII after a prolonged bleed occurs in their first few months of life. Parents may notice more severe bruises than would typically occur as a child learns to crawl or walk.

Von Willebrand Disease

Also an inherited bleeding disorder, Von Willebrand disease (VWD) prevents blood clotting similarly to hemophilia. It is the most common form of bleeding disorder and affects both men and women. This disorder is due to the Von Willebrand factor, which carries the all-important factor VIII. Usually those with Von Willebrand disease have much less Von Willebrand factor than necessary for proper coagulation.

Factor V Leiden

In contrast to hemophilia and Von Willebrand’s disease, factor V Leiden causes the blood to clot too easily. Factor V deficiency and factor V Leiden have the opposite issue. With factor V Leiden, children inherit a mutated form of the factor, causing abnormal clotting patterns. Depending on the location of the abnormality, life-threatening circumstances can occur. Children who possess other chronic health issues are more likely to experience clots in the veins of their legs or at the site of a catheter. It is important that those diagnosed maintain regular activity to help prevent the formation of blood clots.

Children who are diagnosed with bleeding disorders can work with their healthcare professionals to test and measure their factor production and determine the right course of treatment for their specific case. At times, symptoms are absent and bleeding disorders may not have an impact on daily life until such events as pregnancy, injury, or surgery. For this reason, it is important to know if these conditions exist as early as possible. If you suspect your child may have inherited a bleeding disorder consult your doctor for testing.

Therapists can work with your children if they have been diagnosed with a bleeding disorder. Changes to daily routine or limiting certain activities can be difficult to engage at times. Your child’s therapist can help navigate things for the whole family and create the highest level of independence for your child.