Bleeding Disorders: What You Need to Know

When a part of the body is injured and starts bleeding, it’s amazing how quickly healing begins to protect from further damage. Within moments, blood begins a process called coagulation, sending clotting proteins to seal the wound and stop the bleeding. It’s like the body’s built-in emergency response team. For most people, this system works seamlessly, preventing further blood loss. But for those with a bleeding disorder such as hemophilia, their blood fails to form proper clots, making this life-saving process much more slower. 

Internal bleeding is a common and serious problem for people with bleeding disorders such as hemophilia. It often happens in muscles and joints, causing pain and swelling. In rare cases, bleeding can occur in the brain, especially after a head injury. Bleeding in the brain or spinal cord can lead to serious neurological issues that need urgent medical care. Signs to look out for include sudden, intense headaches, stiffness or pain in the neck, unexpected vomiting, sudden weakness or numbness in the limbs, trouble with vision, and difficulty speaking or understanding speech. These symptoms can be life-threatening and should not be ignored. This is why raising awareness about bleeding disorders during Bleeding Disorders Awareness Month is important.

For our contribution to education about bleeding disorders this month, let’s take a look at what exactly a bleeding disorder is and the ways they can be treated and managed.

How is blood clotting supposed to work?

Blood is made up of several components, including red blood cells, white blood cells, platelets, and special molecules called clotting factors, all carried around the body in a liquid called plasma. When a blood vessel gets damaged, such as from a cut or an internal injury, blood begins to leak out. The body immediately detects the damage and responds to stop the bleeding. 

To slow down the bleeding, the blood vessel narrows (a process called vasoconstriction). This reduces the amount of blood flowing to the injured area, giving the body time to form a clot. Clotting takes place in a process called the clotting cascade, where platelets move to the site of the injury and stick to the damaged area and to each other to form a temporary plug. Platelets also release chemical signals that attract more platelets, making the plug stronger.

The clotting cascade is a domino-like sequence where the damaged blood vessel activates tissue factors to help stop the bleeding. These tissue factors trigger a chemical reaction, causing platelets to create a chemical called thrombin, which converts fibrogen into fibrin in the last step of the cascade. Fibrin is a tough, thread-like substance that surrounds the platelet plug, holding it in place and making it more stable. The clot grows strong enough to stop any further blood loss, and over the next several days or weeks it eventually is broken down and shed once the wound heals.

How does blood clotting work in people with bleeding disorders?

People with bleeding disorders have trouble forming stable blood clots, which are needed to stop bleeding.

Bleeding disorders come in many forms and are classified based on which part of the blood clotting process is affected. These disorders occur when components of the clotting cascade are missing, not working properly, or available in the wrong volume. The main types of bleeding disorders are:

Hemophilia

Hemophilia is a condition that is highly inheritable, where the blood lacks a clotting factor that helps it clot properly. While it is usually inherited from a parent, about one-third of cases occur because of a random gene mutation in the fetus. It’s estimated that in the United States, around 33,000 people have hemophilia.

Hemophilia A, also known as factor VIII deficiency or classic hemophilia, occurs when the body lacks or has defective factor VIII, a protein needed for blood clotting. Hemophilia B, also called factor IX deficiency or Christmas disease (so called because the first reported case was a patient named Stephen Christmas), happens when factor IX, another clotting protein, is missing or not working properly. Hemophilia A is about four times more common than hemophilia B. Hemophilia B is the type that descendants of Queen Victoria of England inherited.

Hemophilia is carried by the X chromosome, one of the two sex chromosomes (X and Y). Females have two X chromosomes, one from each parent (XX), while males have one X chromosome from their mother and the Y chromosome from their father (XY). The gene is recessive, so even if a female gets the gene from her father, the other version of the gene from her mother suppresses it, and she will not develop hemophilia. She is considered a carrier of hemophilia and she can pass the gene on to her sons because there is no corresponding gene on the father’s Y chromosome to suppress it..

Symptoms of hemophilia

Mild hemophilia occurs when clotting factor concentrates range from at least 6% but less than 50%. People with this condition usually only experience excessive bleeding after major injuries, surgeries, or other significant trauma. In many cases, mild hemophilia isn’t diagnosed until prolonged bleeding happens after an event like surgery, an injury, or a tooth extraction. Some individuals may not have their first bleeding episode until adulthood. Women with mild hemophilia can have heavy periods and are at risk of excessive bleeding in childbirth.

Moderate hemophilia occurs when clotting factor concentrates range between 1% and 5%. Individuals with this condition often experience bleeding after minor injuries. In some cases, bleeding can happen without any clear cause; these are known as spontaneous bleeding episodes.

Severe hemophilia occurs when clotting factor concentrates are below 1%. Individuals with this condition often bleed badly even after minor injuries and may also experience frequent spontaneous bleeding, especially in their joints and muscles.

How is hemophilia diagnosed?

To check for hemophilia, doctors run tests to see how quickly a person’s blood clots. They also use a test called a clotting factor assay to figure out the type and severity of the condition. When there is no known family history, signs of hemophilia often become apparent only after he incidence of prolonged bleeding or frequent bruising. In some cases, hemophilia is evident when excessive bleeding occurs after a circumcision.

For many girls, the most common sign of a bleeding disorder is having very heavy periods. A hemophilia diagnosis is only sought after symptoms become more severe and persistent. In many cases, girls are not tested for the condition until they reach puberty. 

How is hemophilia treated?

Hemophilia is usually treated with a process called clotting factor infusion, which helps the blood clot properly. There are two types of clotting factors: plasma-derived and recombinant. Plasma-derived clotting factor is made from human blood plasma, while recombinant clotting factor is created in a lab using DNA technology. Clotting factor replacement therapies are delivered through an injection into a vein, usually in the arm or hand or through a chest port.

Patients with severe hemophilia often follow a regular treatment plan called prophylaxis or prophy. This involves taking their medication on a set schedule, such as daily or every other day, to keep enough clotting factor in their blood to prevent bleeding.

Von Willebrand Disease (VWD)

Blood clotting requires many different proteins, including a key one called von Willebrand factor (VWF). Normally, VWF helps blood clot by attaching to another clotting protein, factor VIII, and to platelets in blood vessel walls. This process forms a platelet plug, which is an important step in stopping bleeding. However, in people with VWD, this protein may be missing, present in low amounts, or not functioning properly, so the platelet plug either doesn’t form properly or takes longer to develop. 

There are two different ways that VWD can be inherited, which determines the type of VWD present.

Von Willebrand disease is the most common inherited bleeding disorder, affecting roughly 1 in 100 individuals. It impacts men and women equally, but women often experience more noticeable symptoms, such as heavy menstrual bleeding.

What are the Types of VWD?

Von Willebrand Disease is categorized into three primary types, while a fourth type, known as acquired VWD, develops later in life and is not inherited.

• Type 1 VWD affects about 60% to 80% of patients with the condition. In this type, the level of VWF in the blood is lower than normal, typically between 20% and 50% of the normal amount.
• Type 2 VWD occurs in about 15% to 30% of cases. In this type, the quantity of von Willebrand factor (VWF) in the blood is normal, but it doesn’t work properly.
• Type 3 VWD affects about 5% to 10% of patients. In this form of the condition, there is little to no VWF in the blood. 

Type 1 VWD is what’s called an autosomal dominant version of VWD, caused by changes in only one copy of the gene inherited from either parent who carries it. A child then has a 50/50 chance of inheriting VWD. However, if both parents have the defective gene, the chances are 75/25 that the child will inherit the condition, and there is a 25/75 chance that a child will inherit both copies of the gene, in which case the symptoms of VWD are more acute.

Type 3 VWD comes from a recessive gene, and children will only inherit the condition if both parents are carrying the recessive.

Acquired VWD develops in adults, often as a result of them developing an underlying condition such as an autoimmune disease (e.g., lupus), heart disease, or some forms of cancer. It may also happen as a side effect of medications.

What are the Symptoms of VWD?

The key signs of von Willebrand disease include frequent nosebleeds (more than five per year) that last over ten minutes and prolonged bleeding from cuts or injuries that also last more than ten minutes. People with VWD may bruise easily, often with large, raised bruises bigger than a quarter.

Other symptoms can include heavy bleeding after surgeries, dental procedures, or having a family history of similar bleeding issues. Those with relatives diagnosed with bleeding disorders like von Willebrand disease or hemophilia may also be at higher risk.

For females who are menstruating, heavy periods (requiring very frequent tampon or pad changes) or periods lasting longer than seven days can be a sign. Excessive bleeding after childbirth or miscarriage may also indicate the condition.

How is VWD Diagnosed?

Doctors can use several blood tests to diagnose von Willebrand disease. One is the VWF antigen test, which checks the amount of von Willebrand factor in the blood. Other tests look at how well the blood clots and how platelets function. VWF levels can change due to factors like stress, exercise, pregnancy, birth control pills, or hyperthyroidism, so some tests may need to be repeated for accurate results. Once a diagnosis of VWD is made, further testing is done to determine the specific type.

How is VWD Treated?

The treatment options for von Willebrand Disease vary based on how severe the condition is and the specific cause. In some cases, bleeding is so mild that no treatment is needed.

The most common treatment is desmopressin acetate (DDAVP), which helps release von Willebrand factor from the body’s cells. DDAVP is available in two forms:

• Injectable DDAVP: This is given either into a vein or under the skin in the doctor’s consulting room and is commonly used to treat milder cases of VWD, especially type 1.
• Nasal Spray: A high-dose nasal spray such as Minirin is also used for milder cases of VWD, typically type 1. This spray has the potential to increase clotting factors without the use of blood products.

Severe cases of von Willebrand disease (VWD) are treated with clotting factor replacement therapies in the same manner as hemophilia. Birth control pills, such as Cerazette, may also be used to reduce heavy menstrual bleeding. These pills work by raising the levels of VWF in the blood.

Aminocaproic acid and Lysteda (tranexamic acid) are medications that help stop blood clots from breaking down too quickly. These drugs are commonly used for dental procedures, and nose or mouth bleeds. 

Living with a bleeding disorder

Living with a bleeding disorder requires proactive management and access to the right resources. Patients should work closely with their healthcare providers, especially through specialized Hemophilia Treatment Centers available across the USA, to create a care plan tailored to their needs. Organizations like the National Bleeding Disorders Foundation offer valuable information, educational programs, and advocacy support, while local support groups can provide a sense of connection and shared experience. 

Though there may be challenges, consistent treatment, staying informed, and building a supportive network can help individuals effectively manage their condition and lead a balanced, fulfilling life.

FAQs

How do you know if you have a bleeding disorder?

There are several signs and symptoms that could indicate a bleeding disorder. These include frequent nosebleeds, excessive bruising, prolonged bleeding from cuts or injuries, heavy or prolonged menstrual periods, and bleeding into joints or muscles. If you experience any of these symptoms, speak with a healthcare provider to determine if further testing is necessary.

What is the most serious type of bleeding?

Arterial bleeding occurs when blood vessels are severely damaged, often caused by a penetrating wound or blunt force trauma, and is considered the most serious form of bleeding.

Can you live a normal life with a bleeding disorder?

Living with a bleeding disorder can be challenging and may require lifestyle considerations and modifications that may not be considered normal. However, with proper management, those with bleeding disorders can lead a long and healthy life.

What stops bleeding fast?

The quickest way to stop bleeding is by pressing firmly on the wound and raising the injured area. In those with bleeding disorders, further medical intervention may be required.