Von Willebrand disease is the most common inherited bleeding disorder that causes a delay in the arrest of bleeding. It is present in 1-2% of the population, and while there is no cure for the disease, effective treatments are available. Many people who have the disorder are unaware that they have it. For many females it is investigation for causes of excessively heavy bleeding with their first period that leads to its diagnosis, as the first period is often the first real test of a woman’s clotting system. There is no known racial or ethnic predilection for von Willebrand disease, but it may be less common in African Americans.
The disorder is caused by a defective or abnormally altered gene that causes one of the proteins responsible for the initial arrest of bleeding (called von Willebrand factor) to be low or not function properly. It is a hereditary disorder and can be passed from parents to their children.
The most common symptom of von Willebrand disease in women is heavy menstrual bleeding. This includes having periods lasting more than seven days, with sufficiently heavy blood flow that daily activities are difficult to accomplish. On the heaviest bleeding days, it is common to soak through a tampon or pad every hour. Women with von Willebrand disease may also have heavy bleeding after dental surgery, nose bleeds, and may bruise easily. The excessive bleeding may lead to iron deficiency anemia, and decreased quality of life.
A variety of tests are needed to diagnose von Willebrand disease. First, your doctor will collect information about your medical history and the bleeding problems you have experienced. Blood tests measuring von Willebrand factor and other clotting factors will likely be recommended, usually in specialised centers. If you are diagnosed with von Willebrand disease, family members should also be considered for testing, especially those who are experiencing excessive bleeding.
Treatment varies, depending on how severe your condition is. There are medications to help control bleeding. Tranexamic acid is a medication that can be used during your menstrual period to slow down heavy bleeding. Desmopressin (DDAVP; available as an injection or a nasal spray) can be used at the beginning of your period or prior to a surgical or dental procedure, to help reduce bleeding. Infusions of natural or synthetic von Willebrand factor can also be effective in certain circumstances. Hormonal oral birth control can help reduce menstrual bleeding especially when cycles are irregular. Some treatments such as tranexamic acid and the hormonal birth control pill are also used to control heavy bleeding in patients without von Willebrand disease.
Thrombocytopenia is a condition where blood levels of platelets (also called thrombocytes) are low. Platelets are blood cells that are responsible for clumping together and initiating, together with von Willebrand factor, the early stages of blood arrest, in the case of bleeding.
Problems with low platelets arise because of problems with production of the bone marrow, since this is where platelet are produced. This may occur either because the bone marrow has stopped working (aplastic anemia, myelodysplastic syndrome, radiation or chemotherapy) or is infiltrated with abnormal cells (leukemia, cancer). The bone marrow can also become overwhelmed due to a virus or alcohol. The bone marrow may not function properly if is missing the necessary building blocks (vitamin B12, folate, iron), or if platelets are consumed too fast (autoimmune disorders) or hidden (enlarged spleen, cirrhosis). Immune types are most common in young healthy children and adolescents and can be treated rather successfully.
People with thrombocytopenia tend to bleed a lot when they experience a cut, after surgery, or dental interventions. Small reddish purple spots called petechiae may happen, or dark coloured bruising. Nosebleeds, heavy menstrual bleeding, bleeding gums, and internal bleeding may also happen. Internal bleeding may cause blood in the urine or stool, or very dark vomit. You should see a doctor immediately if you have these symptoms.
Thrombocytopenia is diagnosed based on your medical history, a physical examination, and blood tests to measure platelets. Your doctor may check your body for bruising or petechiae and may feel your spleen to see if it is enlarged. Bone marrow biopsy, CT scan or ultrasound of your spleen and liver may also be part of the testing your doctor recommends.
Sometimes thrombocytopenia is mild enough that no treatment is needed. However, if your platelet count is very low and related to a problem with platelet production in the bone marrow, a transfusion of platelets may be required. Other treatments may also be based on improving the root cause of the low platelet count. For example, if your immune system is causing you to have a low platelet count, treatments such as steroids or immunoglobulins (antibodies) may be used. If your spleen is destroying platelets, you may need to have it removed. Other things you can do to reduce the impact of thrombocytopenia include avoiding activities that may cause bruising or injury, and avoiding alcohol, aspirin, naproxen, and ibuprofen and alcohol, which can all interfere with platelet function.
Platelets are small cells that circulate in the blood. Their job is to cluster together to form an initial temporary clot, wherever there is bleeding happening in the body. Disorders of platelet functioning can also result in poor clotting. These disorders can cause platelets to be less ‘sticky’ than they would normally be, or to cluster together improperly when forming a clot.
Platelet abnormalities can be caused by a number of conditions, including:
Symptoms of platelet function disorders may range from very mild, to very severe. Common symptoms include easy bruising, frequent bleeding from the nose or gums, heavy menstrual bleeding, and prolonged bleeding after injury, surgery, or dental procedures.
Based on your symptoms, your doctor may suspect a platelet function disorder. You may have several blood tests conducted, that evaluate your bleeding time (how long it takes for a small cut to stop bleeding), and the ability of your platelets to stick together (platelet function tests). Based on these results, your doctor may be able to diagnose which platelet disorder you have, or may request more specialized tests.
Platelet disorders that cause heavy menstrual bleeding are often treated with birth control pills or other hormonal birth control methods that can control the frequency or severity of menstruation. There are also medications that can help control nosebleeds and other bleeding, such as Desmopressin, aminocaproic acid, or tranexamic acid. In some cases, a platelet transfusion may be required for severe bleeding, or in preparation for surgery.
Hemophilia is an inherited bleeding disorder where your blood does not clot properly. The condition afflicts mainly males, although females can have symptoms too.
Hemophilia is a genetic disorder caused by a missing or defective gene for the clotting protein called factor VIII (hemophilia A). Sometimes it is inherited from parents, but about a third of the time it results from a spontaneous gene mutation. It occurs in about 1 in 5000 births, and afflicts primarily males.
Hemophilia causes bleeding in the joints, skin, mouth and gums, and into the urine or stool. Frequent nosebleeds and easy bruising are common symptoms. In women who carry the defective gene, heavy menstrual bleeding and excessive bleeding after childbirth may occur.
Blood tests to assess clotting time and measure clotting factors are performed. The specific clotting factors that are missing in hemophilia are Factor VIII (in hemophilia A), and Factor IX (in hemophilia B). In general, the lower the level of these factors in the blood, the more severe the hemophilia will be.
Hemophilia is treated by infusing the missing clotting factor into a vein, either to prevent bleeding episodes, or to treat a bleeding episodes. Individuals with hemophilia should not take drugs that affect platelet functioning, including aspirin and ibuprofen, as these may worsen bleeding.