Von Willebrand Disease Case Study
Von Willebrand disease
When you sustain an injury or if your blood vessels get damaged, it sends out strong signals that are picked up by platelets. These platelets are tiny blood cells rush and spread across the surface of the injury and form clots or plug to stop the bleeding or repair the damage in a process known as adhesion. On any site of injury, these platelets send out chemical signals to other platelets to pile onto the clot formed in a process known as aggregation. Having too many platelets can cause blood clots which may cause a heart attack, stroke or block a major artery. If you have too few or no platelets can be dangerous too because any slight injury can lead to serious blood loss. An example of platelet disorder is …show more content…
the von Willebrand disease.
What is Von Willebrand disease?
Von Willebrand disease is an autosomal inherited bleed disorder that is caused by a defects of von Willebrand factor. The von Willebrand factor is an adhesive plasma protein that helps the platelets to stick with each other and form a clot. This von Willebrand factor also helps to protect a clotting factor called factor 8 (FVIII). When there is a defect in the von Willebrand factor or a reduction in plasma level, then the ability of the blood to clot decreases and may cause prolonged and excessive bleeding after an injury which is known as von Willebrand disease or disorder.
What causes von Willebrand disease?
Von Willebrand disease is a genetic disorder that is caused by a defective gene that is responsible for producing von Willebrand factor. This genetic defect can be passed from one or both parents onto a child.
What are the types of Von Willebrand disease?
Von Willebrand disease is classified according to the level and function of the von Willebrand factor available in the blood. There are the inherited form and the very rare acquired form of Von Willebrand disease. The inherited form has three major types 1-3 and a platelet type.
Type 1: this is the most common and mildest type compared to the other types of von Willebrand disease. This type usually has a mild symptom that most people suffering from this disease are not aware of it. In type 1 von Willebrand disease, there is a general reduced level of von Willebrand factor available in the blood. People suffering from this type 1 do not bleed spontaneously as a result of some level of von Willebrand factor present however they could still bleed excessively during injury or surgery.
Type 2: this type 2 is associated with defect or abnormality occurring in the von Willebrand factor which means that even though the body produces normal amount of the von Willebrand factor however it does not work normally. This type 2 condition is furthered divided into four subtypes based on the type of problem with the von Willebrand factor. The symptoms of this type of von Willebrand disease is milder than type 3 but more severe than type 1.
Type 3: this type of Von Willebrand is rare and it is associated with a very low level or absence of the von Willebrand factor. The absence of this factor means there is often bleeding from the nose, mouth bowel, joint bleed after any slight injury.
Platelet type: this type of disease is associated with a defect occurring in the platelets.
Acquired von Willebrand disease: This type is very rare and as the name implies, they are acquired later in life as a result of different conditions such as hypothyroidism (underactive thyroid) and multiple myeloma cancer that have an impact on the production or the function of Von Willebrand factor.
Who are at risk of getting this disease?
Type 1, type 2 and the platelet type of this disease are autosomal dominant inheritance which means that only one parent has to pass a copy of this defected von Willebrand factor gene to their child for them to get this disease. Type 3 of this von Willebrand disease is autosomal dominant inheritance which means that both parents have to pass a copy of the faulty gene to their child. People who suffer from this disease often have a family history of the disease.
How is von Willebrand disease diagnosed?
It can be quite difficult to diagnose type 1 and type 2 because they are not associated with major bleeding issues compared to type 3 which can be diagnosed in its early stage because of the severe bleeding associated with it since infancy. The sufferer’s family history of abnormal excessive bleeding (genetic test) can sometimes help to diagnose this disorder. When your GP suspect you may have the von Willebrand disease, he would refer you to specialist who diagnose and treat various blood disorders (haematologist). The haemophilia centre is one of the major centre for diagnosing such bleeding disorder. At the centre, the haematologist will carry out various tests to estimate your platelet function, total blood count, ABO blood group, von Willebrand factor profile testing and your clotting capability. You may be advised to visit the centre more than once to repeat certain test and this is because the level of von Willebrand in the body can fluctuate as a result of hormones and stress.
How is Von Willebrand disease treated?
Treatment for this condition often depends on the type and severity. Mild cases of von Willebrand disease does not often require any treatment but instead special precautions and lifestyle changes may be required. In more severe cases, there are treatments used to prevent the bleeding and they include:
Von Willebrand factor concentrate: which Is purified from human plasma and injected directly into the vein
Desmopressin: This can be injected or used as nasal spray.
A dose of desmopressin is usually recommended so as to check If it is effective and also to study its side effects. Some of the side effect associated with using desmopressin is heart palpitation, fluctuating blood pressure, mild headache and facial flushing.
Tranexamic acid which also could be injected or used as mouth wash or tablets.
For women with heavy period, it is often recommended to go for hormone therapy including birth control pills/ oral contraceptive pills, extra pads and an intrauterine device.
How to manage von Willebrand disease?
People with this disease who are scheduled to undertake surgery should make sure that the surgeon or GP is aware so that precaution measures can be taken to avoid excess bleeding.
People diagnosed with this disease should try and avoid activities where there are risks of bruise or bleeding. In the case that such is not avoidable, protective equipment should be worn.
Some medications are known to aggravate the blood’s ability to clot so medications such as ibuprofen or non-steroidal anti-inflammatory drugs and aspirin should be avoided.
Stick to the treatment plans and go for regular check-ups so as to monitor the progress of the
treatment.
When you sustain an injury or if your blood vessels get damaged, it sends out strong signals that are picked up by platelets. These platelets are tiny blood cells rush and spread across the surface of the injury and form clots or plug to stop the bleeding or repair the damage in a process known as adhesion. On any site of injury, these platelets send out chemical signals to other platelets to pile onto the clot formed in a process known as aggregation. Having too many platelets can cause blood clots which may cause a heart attack, stroke or block a major artery. If you have too few or no platelets can be dangerous too because any slight injury can lead to serious blood loss. An example of platelet disorder is …show more content…
the von Willebrand disease.
What is Von Willebrand disease?
Von Willebrand disease is an autosomal inherited bleed disorder that is caused by a defects of von Willebrand factor. The von Willebrand factor is an adhesive plasma protein that helps the platelets to stick with each other and form a clot. This von Willebrand factor also helps to protect a clotting factor called factor 8 (FVIII). When there is a defect in the von Willebrand factor or a reduction in plasma level, then the ability of the blood to clot decreases and may cause prolonged and excessive bleeding after an injury which is known as von Willebrand disease or disorder.
What causes von Willebrand disease?
Von Willebrand disease is a genetic disorder that is caused by a defective gene that is responsible for producing von Willebrand factor. This genetic defect can be passed from one or both parents onto a child.
What are the types of Von Willebrand disease?
Von Willebrand disease is classified according to the level and function of the von Willebrand factor available in the blood. There are the inherited form and the very rare acquired form of Von Willebrand disease. The inherited form has three major types 1-3 and a platelet type.
Type 1: this is the most common and mildest type compared to the other types of von Willebrand disease. This type usually has a mild symptom that most people suffering from this disease are not aware of it. In type 1 von Willebrand disease, there is a general reduced level of von Willebrand factor available in the blood. People suffering from this type 1 do not bleed spontaneously as a result of some level of von Willebrand factor present however they could still bleed excessively during injury or surgery.
Type 2: this type 2 is associated with defect or abnormality occurring in the von Willebrand factor which means that even though the body produces normal amount of the von Willebrand factor however it does not work normally. This type 2 condition is furthered divided into four subtypes based on the type of problem with the von Willebrand factor. The symptoms of this type of von Willebrand disease is milder than type 3 but more severe than type 1.
Type 3: this type of Von Willebrand is rare and it is associated with a very low level or absence of the von Willebrand factor. The absence of this factor means there is often bleeding from the nose, mouth bowel, joint bleed after any slight injury.
Platelet type: this type of disease is associated with a defect occurring in the platelets.
Acquired von Willebrand disease: This type is very rare and as the name implies, they are acquired later in life as a result of different conditions such as hypothyroidism (underactive thyroid) and multiple myeloma cancer that have an impact on the production or the function of Von Willebrand factor.
Who are at risk of getting this disease?
Type 1, type 2 and the platelet type of this disease are autosomal dominant inheritance which means that only one parent has to pass a copy of this defected von Willebrand factor gene to their child for them to get this disease. Type 3 of this von Willebrand disease is autosomal dominant inheritance which means that both parents have to pass a copy of the faulty gene to their child. People who suffer from this disease often have a family history of the disease.
How is von Willebrand disease diagnosed?
It can be quite difficult to diagnose type 1 and type 2 because they are not associated with major bleeding issues compared to type 3 which can be diagnosed in its early stage because of the severe bleeding associated with it since infancy. The sufferer’s family history of abnormal excessive bleeding (genetic test) can sometimes help to diagnose this disorder. When your GP suspect you may have the von Willebrand disease, he would refer you to specialist who diagnose and treat various blood disorders (haematologist). The haemophilia centre is one of the major centre for diagnosing such bleeding disorder. At the centre, the haematologist will carry out various tests to estimate your platelet function, total blood count, ABO blood group, von Willebrand factor profile testing and your clotting capability. You may be advised to visit the centre more than once to repeat certain test and this is because the level of von Willebrand in the body can fluctuate as a result of hormones and stress.
How is Von Willebrand disease treated?
Treatment for this condition often depends on the type and severity. Mild cases of von Willebrand disease does not often require any treatment but instead special precautions and lifestyle changes may be required. In more severe cases, there are treatments used to prevent the bleeding and they include:
Von Willebrand factor concentrate: which Is purified from human plasma and injected directly into the vein
Desmopressin: This can be injected or used as nasal spray.
A dose of desmopressin is usually recommended so as to check If it is effective and also to study its side effects. Some of the side effect associated with using desmopressin is heart palpitation, fluctuating blood pressure, mild headache and facial flushing.
Tranexamic acid which also could be injected or used as mouth wash or tablets.
For women with heavy period, it is often recommended to go for hormone therapy including birth control pills/ oral contraceptive pills, extra pads and an intrauterine device.
How to manage von Willebrand disease?
People with this disease who are scheduled to undertake surgery should make sure that the surgeon or GP is aware so that precaution measures can be taken to avoid excess bleeding.
People diagnosed with this disease should try and avoid activities where there are risks of bruise or bleeding. In the case that such is not avoidable, protective equipment should be worn.
Some medications are known to aggravate the blood’s ability to clot so medications such as ibuprofen or non-steroidal anti-inflammatory drugs and aspirin should be avoided.
Stick to the treatment plans and go for regular check-ups so as to monitor the progress of the
treatment.