What is Polycythaemia ?
In simple terms, it is the increase in the number of red cells. It is detected by doing a simple blood test. The haemoglobin measurement is high and there are a number of reasons for a high haemoglobin.
Common causes are: Smoking, Heart diseases (usually from birth), lung diseases, kidney diseases and then polycythaemia due to bone marrow overproduction of red cells which is called polycythaemia vera.
Polycythemia vera is a disease in which too many red blood cells are made in the bone marrow.
In polycythemia vera, the blood becomes thickened with too many red blood cells. The number of white blood cells and platelets may also increase. These extra blood cells may collect in the spleen and cause it to swell. The increased number of red blood cells or platelets in the blood can cause bleeding problems and make clots form in blood vessels. This can cause serious health problems such as stroke or heart attack. In patients older than 65 years, the risk of stroke and heart attack is higher, and polycythemia vera is more likely to become acute myeloid leukemia or chronic idiopathic myelofibrosis.
What are the signs and symptoms ?
Possible signs of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side, headache, Itching all over the body, especially after a hot bath, dizziness.
Polycythemia vera often does not cause early symptoms. It is sometimes found during a routine blood test. Symptoms may occur as the number of blood cells increases. Other conditions may cause the same symptoms.
How is it diagnosed ?
Bone marrow test and a genetic test (JAK2) will be done to diagnose polycythemia vera. It will be arranged once other common causes of polycythaemia are ruled out. You will be given information on the bone marrow test.
How to treat Polycythaemia ?
If polycythaemia is secondary to other medical condition then specific treatment to control/ cure the underlying medical condition is required. Smoking is a common cause and should be stopped. If it due to overproduction of red cells by the bone marrow then there are specific treatments which depends upon the severity of the disease, age and presence of other risk factors. It will be explained to you by your haematologist (Doctor). In general following modality of treatments are used:
1.Blood letting (Blood donation) : This is simply taking out excess blood periodically as per the symptoms and the blood count. Some people may experience fainting and may need some rest and oral fluids after taking the blood. Some patients need saline given through a needle in the arm.
2.Hydroxyurea : This is a type of chemotherapy agent which is used to control the excessive blood cell production in the bone marrow. It is in the form of a capsule and has to be closely monitored with regular blood counts. It should not be taken without close supervision and needs to given by a doctor experienced in managing it's side-effects.
3.Interferon : It is an injection which controls the excessive cell division and growth. It has various side-effects and is expensive.
What is the prognosis (outlook) for Polycythaemia ?
If you have polycythaemia vera (bone marrow disease) then there is small chance that it may transform into serious disease like acute leukaemia (blood cancer). This risk increases with increasing age. It can also transform into Myelofibrosis (enlarged spleen with decreasing blood counts). We will explain these risks in detail if you wish.
Any further information will be given by your haematologist.
What is von Willebrand Disease ?
Von Willebrand disease (VWD) is an inherited bleeding disorder. It affects your blood's ability to clot. If your blood doesn't clot, you can have heavy, hard-to-stop bleeding after an injury. The bleeding can damage your internal organs or even be life threatening, although this is rare. In VWD, you either have low levels of a certain protein in your blood, or the protein doesn't work the way it should. The protein is called von Willebrand factor, and it helps the blood clot.
Normally, when one of your blood vessels is injured, you start to bleed. Small blood cells called platelets clump together to plug the hole in the blood vessel and stop the bleeding. Von Willebrand factor acts like glue (adhesive) to help the platelets stick together and form a blood clot.
Von Willebrand factor also carries clotting factor VIII, another important protein that helps your blood clot. Factor VIII is the protein that's inactive or missing in haemphilia, another clotting disorder. VWD is more common and usually milder than haemophilia. In fact, VWD is the most common of all the inherited bleeding disorders. It occurs in about 1 out of every 100 to 1,000 people. VWD affects both males and females, while haemophilia mainly affects males.
Types of von Willebrand Disease
There are three major types of VWD.
In type 1 VWD, you have a low level of the von Willebrand factor, and you may have lower levels of factor VIII than normal. This is the mildest and most common form of the disease. About 75% of people who have VWD have type 1.
In type 2 VWD, the von Willebrand factor doesn't work the way it's supposed to. Type 2 is divided into subtypes: 2A, 2B, 2M, and 2N. Different gene mutations cause each type, and each is treated differently. This makes knowing the exact type of VWD that you have very important.
In type 3 VWD, you usually have no von Willebrand factor and low levels of factor VIII. Type 3 is the most serious form of VWD, but it's very rare.
What Causes von Willebrand Disease ?
Von Willebrand disease (VWD) is almost always inherited. Your parents pass the gene for the disease on to you. You can inherit type 1 or type 2 VWD when only one of your parents passes the gene on to you. You usually inherit type 3 VWD only if both of your parents pass the gene on to you. Your symptoms may be different from your parents'symptoms. Some people carry the genes for the disease but don't have symptoms. They still can pass the disease on to their children. Some people develop a form of VWD later in life as a result of other medical conditions. This form of VWD is called acquired von Willebrand syndrome.
What Are the Signs and Symptoms of von Willebrand Disease ?
The signs and symptoms of von Willebrand disease (VWD) depend on the type and severity of the disease. Many people have such mild symptoms that they don't know they have the disorder.
If you have type 1 or type 2 VWD, you may have the following mild-to-moderate bleeding symptoms:
• Frequent large bruises from minor bumps or injuries
• Frequent or hard to stop nosebleeds
• Extended bleeding from the gums after a dental procedure
• Heavy or extended menstrual bleeding in women
People with type 3 VWD may have all of the symptoms listed above, as well as severe bleeding episodes for no reason.
• Heavy menstrual bleeding is often the main symptom of VWD for women. Doctors call this menorrhagia
How is VWD treated ?
Treatment is required in case of persistent bleeding.
• Desmopressin (DDAVP) is a synthetic hormone that you usually take by injection or nasal spray. DDAVP works for most patients who have type 1 VWD and for some who have type 2 VWD.
• Von Willebrand factor replacement therapy is an infusion of a concentrate of von Willebrand factor and factor VIII into a vein in your arm.
Treatments for Women
Treatments for women who have VWD with heavy menstrual bleeding include:
• • Combined oral contraceptives (birth control pills
Living with von Willebrand Disease
Preventing bleeding and staying healthy are important if you have von Willebrand disease (VWD). You should:
• Avoid over-the-counter medicines that can affect blood clotting, including aspirin, ibuprofen, and other nonsteroidal anti-inflammatory drugs (NSAIDs).
• Always check with your doctor before taking any medicines.
• Tell your doctor and dentist that you have VWD. Your dentist can talk to your doctor about whether you need medicine before dental work to reduce bleeding.
• Exercise regularly and maintain a healthy weight. Exercise helps keep muscles flexible. It also helps prevent damage to muscles and joints. Always stretch before exercising.
Always check with your doctor before starting any exercise program. Since your parents, brothers and sisters, and children may also have von Willebrand disease, you should consider getting them tested.
Bleeding disease card
You should always carry a "Bleeding disease card" which will be given to you after the diagnosis