What is Bleeding Disorders?
Your body has built-in systems to stop bleeding when you get hurt. It’s important to understand these natural processes, as this knowledge can help identify when something is wrong in your body and might be causing abnormal bleeding. Your blood’s clotting system, or ‘hemostatic system’, keeps your blood flowing freely and prevents clumps of blood cells, called ‘platelets’, from forming clots. This is done with the help of several substances found in your blood: ‘prostacyclin’, ‘antithrombin III’, and ‘nitric oxide’, all found inside the cells that line your blood vessels (‘endothelial cells’).
These substances naturally present in the blood prevent clots from forming by converting a substance called ‘plasminogen’ into ‘plasmin’, which breaks down ‘fibrin’ (one of the main components of a blood clot). If your blood vessels get damaged or injured, several steps kick into gear to control the bleeding. The first thing that happens is that your blood vessels will constrict or tighten up at the injury site, restricting the blood flow. Then, your system starts a first, rapid response, or ‘primary hemostasis’. Platelets, a type of blood cells specialized in clotting, start releasing a substance known as ‘von Willebrand factor’ (vWF), which helps them stick together and form a temporary plug at the injury site.
As the temporary plug or clot is being formed, vWF keeps binding to ‘collagen’ and ‘Factor VIII’ (other components that contribute to the clot) to make sure the clot stays in place. After this temporary platelet plug is established, a more complex process known as the ‘clotting cascade’ starts, reinforcing the initial clot with a stronger, permanent one made of fibrin. This system operates in a sequence where various substances known as ‘clotting factors’ get activated, resulting in the formation of a sturdy clot at the injury site. If any of these clotting factors are missing, it can cause problems forming a firm clot, which can result in excessive bleeding.
Bleeding disorders can either be inherited (passed down through families) or acquired (developed at any point in your life). Inherited bleeding disorders usually involve a deficiency of the clotting factors we mentioned earlier. Acquired bleeding disorders are generally broader and depend more closely on other health conditions you might have. This summary mostly focuses on inborn blood clotting disorders, also known as ‘congenital coagulopathies’. Acquired bleeding disorders won’t be discussed further in this summary.
What Causes Bleeding Disorders?
Hemophilia is a genetic disorder that often gets passed down through families and is more frequent in males due to its connection with the X chromosome. This condition is diagnosed when there’s an unusual amount of specific proteins, called Factor VIII or IX. These proteins play a crucial role in the blood clotting process, and a reduction in their amount can lead to bleeding issues. Interestingly, about one-third of hemophilia cases are not inherited but are caused by a sudden change or mutation in the person’s genes.
Von Willebrand disease is another genetic disorder that affects blood clotting, and anyone can inherit it from their parents, regardless of their gender. Yet, this illness differs from hemophilia, as the symptoms can vary significantly from one person to another. People with two copies of the gene (homozygotes) for Von Willebrand disease often experience the most severe symptoms. The symptoms are due to a deficiency or dysfunction of a protein known as the von Willebrand factor, which is essential for blood clot formation.
It’s important to mention that both of these bleeding disorders can affect anyone, regardless of their racial or ethnic background.
Risk Factors and Frequency for Bleeding Disorders
Hereditary bleeding disorders are caused by either the lack of or insufficiency in certain clotting proteins. These disorders occur due to issues with how proteins interact in the process of blood clotting. The three most common types of these disorders are hemophilia A, hemophilia B, and von Willebrand disease.
- Hemophilia A, also known as Factor VIII deficiency, is a genetic disorder that’s passed down via the maternal X chromosome and affects around 1 in 5000 males, making it the most common inherited blood clotting disorder.
- Hemophilia B, also known as Factor IX deficiency or Christmas disease, is an X-linked genetic disorder that also affects blood clotting, but is less common, affecting 1 in 30000 male births.
- The name “Christmas disease” comes from Steven Christmas, the first person diagnosed with Hemophilia B in 1952.
- Since hemophilia is genetic, it is more common in populations where closely related people have children together.
- Females can carry the hemophilia gene without showing any symptoms, or they might show a partial deficiency of the specific blood clotting factors.
- Von Willebrand disease is passed down through families and affects men and women equally. However, women are more likely to show symptoms because they can experience more bleeding during their menstrual cycles.
- This disease was first described in 1926 by Finnish physician Erik Adolf von Willebrand. According to the CDC, it affects around 1% of people.
Signs and Symptoms of Bleeding Disorders
Hemophilia is a health condition which can vary in its severity. Those affected by a mild form may only show symptoms following intense physical trauma or surgery. In contrast, those with a moderate to severe form of the disease exhibit characteristics such as bleeding from the gums or other moist surfaces in the body, bruising easily, and forming bruises that fill with blood (hematomas).
The worrying aspect of hemophilia is when bleeding occurs in the joints, especially in the ankles, knees, and elbows. This is known as hemarthrosis, which can trigger inflammation causing painful, swollen joints that limit movement. The condition can lead to a damaging cycle where the joints get damaged resulting in more inflammation, providing another site for bleeding to happen. Over time, this can result in hemophilic arthropathy, which is characterized by narrowing joints, bone cysts, and a decreased range of motion. Bleeding into muscle tissue from light injuries can cause a decrease in red blood cells leading to anemia, and pressure on important structures and nerves, leading to what is known as compartment syndrome.
Bleeding can also occur less frequently in the urinary and gastrointestinal tracts. People with hemophilia are at a significant risk of experiencing bleeds in the brain, which is a life-threatening situation. In newborns, hemophilia can show as a blood-filled swelling on the head after delivery through the birth canal and heavy bleeding following circumcision.
Von Willebrand Disease, on the other hand, is another bleeding disorder which can show signs and symptoms starting from childhood. An easily noticeable symptom is the tendency to bruise and bleed easily. While some people with a mild form of the condition may not show symptoms at all, others with insufficient or malfunctioning vWF (a particular blood protein) may experience an increased tendency to bleed from the mucous membranes and frequent nosebleeds. Women with von Willebrand disease may suffer from severe menstrual bleeding, which is often the first sign of the disease leading them to seek medical help and receive a diagnosis. Similar to hemophilia, these patients may also go unnoticed until they experience significant trauma or undergo a major surgery.
Testing for Bleeding Disorders
If you are suspected of having a bleeding disorder, you will typically undergo a series of laboratory tests to confirm the diagnosis. However, the exact types and range of these tests can change from hospital to hospital. The usual starting point includes tests to examine the count and functionality of your platelets (a type of blood cell that helps form clots), the quickness of your blood clotting process and the percentage of working clotting factors in your blood.
The platelet count, which should normally be between 150,000 to 500,000 per ml of blood, is crucial because not only should you have enough platelets, but they should also be working correctly. The “bleeding time” test checks how well your platelets are functioning.
The prothrombin time (PT) and international normalized ratio (INR) tests are used to check the functionality of several clotting factors that are created in your liver with vitamin K’s help. In certain cases, if you are taking a specific medication such as warfarin, these clotting factors might be interfered with, affecting the PT and INR test results. The INR value, which usually lies between 0.8 to 1.2, helps estimate how many of your clotting factors are working. For instance, an INR of 2 to 3 corresponds to about 10% of active clotting factors. Normal blood coagulation needs at least 30% of these clotting factors.
An additional test, partial thromboplastin time (aPTT), measures the efficiency of certain factors like the von Willebrand Factor and factors VIII, IX, XI, XII in the blood clotting process.
For example, if a person has hemophilia, a condition that affects the blood’s ability to clot, their aPTT test results will likely be higher, showing they have fewer of these factors, while their PT/INR, bleeding time and platelet count will remain normal. If aPTT results are elevated, the doctor will usually recommend more specific tests to look at the levels of individual factors, in particular Factor VIII and IX.
If von Willebrand disease is suspected, which affects the blood clotting process, your tests will show longer bleeding times and lower levels of the von Willebrand Factor. This condition is usually confirmed through multiple tests over a time, as the levels of the von Willebrand Factor can change due to various factors like stress, pregnancy, exercise, and inflammation. The aPTT might also be slightly elevated in about half the patients with von Willebrand disease due to low levels of Factor VIII.
Treatment Options for Bleeding Disorders
Treating hemophilia often involves providing the patient with the missing clotting factor, either regularly as a preventative measure or on a need-to basis during episodes of bleeding. This therapy typically uses lab-made versions of the Blood Clotting Factor VIII and IX, which reduce the risk of virus transmission.
For those with von Willebrand disease, treating may involve using a drug called desmopressin (DDAVP) or cryoprecipitate, which is a type of frozen blood plasma. DDAVP helps release von Willebrand factor (vWF), a protein that helps blood to clot, in patients with type 1 von Willebrand disease. It can be administered through an IV, under the skin, or through the nose, which is convenient for home treatment. It is important to note, though, that some patients with type 1 von Willebrand disease and those with type 2 or 3 von Willebrand disease may need additional treatments or not respond to DDAVP at all due to certain characteristics of their disease.
For those who aren’t suitable for DDAVP or require additional supplementation, there are products that contain both Factor VIII and vWF. One such option is a human plasma-derived concentrate of Factor VIII, which has high levels of vWF and has undergone a pasteurization process to inactivate any potential viruses.
An alternative option is Alphanate, a commercial product that contains not only Factor VIII, but also an essential component for vWF support. It is approved for use in both adults and children who have either Hemophilia A or von Willebrand disease and require treatment or prevention for bleeding, whether spontaneous or trauma-related, including surgery.
There is also a product available that contains Factor IX concentrate, which also has undergone purification techniques to eliminate the risk of viral transmission.
Fresh frozen plasma (FFP), cryoprecipitate, and platelet transfusions are other potential treatments that contain Factor VIII and vWF, although they are less preferred due to the need for large volumes to achieve adequate clotting factor levels and potential risk of viral transmission.
In some cases, antifibrinolytic acid therapy may also be useful for preventing or treating bleeding episodes. These medications work by inhibiting the breakdown of blood clots (fibrinolysis) and promoting clot formation.
Finally, for women with Type 1 von Willebrand disease who have heavy periods (menorrhagia), hormonal treatments like oral contraceptives and depot medroxyprogesterone could help by significantly increasing the levels of circulating vWF.
What else can Bleeding Disorders be?
The list of medical conditions that could potentially cause abnormal blood clotting include:
- Cancer
- Severe failure of the liver
- Low platelet count in the blood (Thrombocytopenia)
- Lack of Vitamin K
- Antithrombin III deficiency, a condition that increases the risk of blood clots
- Excessive blood transfusion
- Disseminated intravascular coagulation, a severe condition that involves widespread clotting and bleeding
- Lupus anticoagulant, a disorder related to the autoimmune disease Lupus, that increases the risk of blood clots
- Protein C deficiency, a disorder that increases the risk of blood clots
- Protein S deficiency, a disorder that increases the risk of blood clots
- Idiopathic thrombocytopenic purpura (ITP), a disorder that can cause excessive bruising and bleeding
- Side effects from certain medications
What to expect with Bleeding Disorders
People with inborn bleeding disorders can lead normal, fulfilling lives with the right medical treatment, education, and a strategy for handling injuries or surgeries. It’s a good idea for these individuals to wear a medical ID bracelet. This way, if they’re in a significant accident or can’t verbally share their medical history, they’ll still receive appropriate care.
