Von Willebrand Disease(VWD): Von Willebrand Disease, also known as VWD is an inherited bleeding disorder. Maximum people with this condition inherited it from a parent. They possess a faulty gene that creates problems with a protein important to the blood-clotting process.
People with Von Willebrand Disorder have difficulty with a protein in their blood called von Willebrand factor (VWF) that helps control bleeding. They do not have adequate of the protein or it does not work the way it should. It takes prolonged for blood to clot and for bleeding to stop.
Von Willebrand Disease is the usual common bleeding disorder, swaying up to 1% of the US population. It is carried on chromosome 12 and happens equally in men and women.
There’s currently no cure for Von Willebrand Disorder, but it doesn’t usually create serious difficulties and most people with it can continue normal active lives.
Von Willebrand Disease Symptoms
The Von Willebrand Disease Symptoms vary greatly from person to person. The symptoms of VWD may start at any age.
The main Von Willebrand Disease Symptoms are:
- Frequent nosebleeds or that are difficult to stop
- Bleeding gums
- Bleeding for a long time with minor cuts
Symptoms of von Willebrand disease in women-Symptoms of a heavy period that may indicate von Willebrand disease-
- The presence of the menstrual flow of blood clots larger than 1 inch in diameter.
- The need to change your menstrual pad more often than hourly.
- The need to use repeated sanitary protection to manage the menstrual flow.
- Manifestations of anaemia, including tiredness, fatigue or shortness of breathing.
There are three foremost types of Von Willebrand Disorder based on defects in Von Willebrand Factors(VWF). And the fourth type of Von Willebrand disease is, acquired VWD, it is not genetic.
Type 1 Von Willebrand Disease is observed in 60%-80% of patients. People with type 1 Von Willebrand Disorder have a quantitative deficiency of VWF. Levels of von Willebrand factor in the blood range of 20%-50% of normal. The symptoms are ordinarily mild.
Type 2 Von Willebrand Disease is found in 15%-30% of patients. People with type 2 have a qualitative insufficiency in their von Willebrand factor. Type 2 Von Willebrand Disorder is separated down into four subtypes: type 2A, type 2B, type 2M and type 2N, depending on the appearance and behaviour of multimers, molecular chains of VWF. Symptoms denote mild to moderate.
Type 3 Von Willebrand Disease is found in 5%-10% of patients. People with type 3 Von Willebrand Disorder have a quantitative lack of von Willebrand factor. Symptoms are typically critical and include uncontrollable bleeding episodes, usually into their joints and muscles.
Acquired Von Willebrand Disorder- This type of Von Willebrand Disease in adults results after a determination of an autoimmune disease, such as lupus, or from heart disease or some sorts of cancer. It can also happen after taking certain medications.
How Von Willebrand Disease Inheritance?
Von Willebrand Disease is frequently a genetic disorder. This implies it is passed down into the genes from parent to child. The modified gene in von Willebrand ailment is on one of the normal chromosomes, not on one of the sex chromosomes (like haemophilia). This implies that, unlike haemophilia which attacks more males, von Willebrand Disease afflicts males and females in the same numbers.
The Von Willebrand Factor gene is positioned on the short arm p of chromosome 12 (12p13.2). It becomes 52 exons spanning 178kbp. Types 1 and 2 Von Willebrand disease are inherited as autosomal dominant traits and type 3 is inherited as autosomal recessive. Occasionally, type 2 also inherits recessively. Von Willebrand disease occurs in nearly 1% of the population and affects men and women equally. There are two foremost Von Willebrand Disease inheritance-
If one parent has a genetic fault that causes VWD-
In maximum type 1 and type 2A, 2B and 2M Von Willebrand Disease, the VWD gene is dominant. This implies that if one parent has a VWD gene, they become a one in two (50%) chance of passing the gene on to each of their children. Their children may or may not produce symptoms.
If both parents have a fault in the VWD gene-
In type 3 and type 2N and some type 1 and 2A Von Willebrand Disorder, the VWD gene is recessive. If both parents bring this type of VWD, they may not produce symptoms but there is a one in four (25%) chance that their children could inherit a copy of the VWD gene from both of them and produce symptoms, usually severe.
There is a one in two (50%) probability that their children will inherit only one copy of the VWD gene from them and transfer the gene but not have symptoms, like their parents. There is further a one in four (25%) probability that their children will not inherit the VWD gene at all.
The chances of Von Willebrand Disease inheritance type 1 Von Willebrand disease can likewise be affected by other circumstances, including blood group – people with blood group O are numerous often affected than somebody with blood group A or B.
If one member of a family is diagnosed with Von Willebrand Disorder, the doctor may suggest examining other members to see whether they have Von Willebrand Disease as well.
Von Willebrand Disease Diagnosis
A medical history is important to help determine if other relatives have been diagnosed with a bleeding disorder or have experienced symptoms. A clotting factor test designated an assay, and experiments measuring platelet function also may be done. The von Willebrand factor antigen test estimates the amount of VWF in blood plasma. Patients with VWD typically have <50% of normal VWF in their plasma. After VWD is established, a test to determine the exact type is done.
VWD can be difficult to diagnose and repeated testing may be needed to confirm the diagnosis. It should be regarded that von Willebrand factor can increase due to stress, exercise, the use of oral contraceptives, pregnancy, and hyperthyroidism.
Many people’s marks are mild and they may not be diagnosed until they have a major bleeding problem, eg from an injury. Though, if they have a severe form of VWD, they will usually have major bleeding problems as a baby will often be diagnosed within their first year of life.
Test for Von Willebrand Disease
The physician may order various laboratory tests on blood samples:
Von Willebrand factor(VWF) antigen: to estimate the amount of von Willebrand factor in the blood.
Von Willebrand factor(VWF) ristocetin cofactor action and/or the collagen binding assay: to show how well the von Willebrand factor works.
Factor VIII clotting activity: to estimate how well the von Willebrand factor binds to the factor VIII protein and keeps the level of factor VIII in the blood. Some people with VWD have low levels of factor VIII, while others have normal levels
Von Willebrand factor multimers: if some tests suggest you have Von Willebrand disease, this test is used to show the makeup or structure of the von Willebrand factor and helps to diagnose the type of VWD.
Platelet function test: to estimate how well your platelets are working.
Allowing the laboratory test results is complex and needs to be done by a haematologist and laboratory with experience in VWD.
Von Willebrand disease can only be diagnosed with specialized blood tests. Routine blood tests often give normal results, which is why the person’s history of bleeding is so important.
There are a variety of issues related to diagnosing Von Willebrand disease, including:
- Other family members may need to be tested for VWD.
- Decisions will need to be made, in consultation with your Haemophilia Centre or Service, about which treatment options will be the most suitable.
- Haemophilia Centre social workers, counsellors, and nurses are available to help people deal with these issues.
Von Willebrand Disease Treatment
Von Willebrand disease is a permanent condition with no cure, treatment can assist prevent or stop bleeding incidents. Your strategy depends on:
- The type and severity of your condition of the Von Willebrand disease.
- How you’ve responded to earlier treatment.
- Your other medications and health conditions.
- Your physician may suggest one or more of the subsequent treatments increase your von Willebrand factor, encourage blood clots or, in women, check heavy menstrual bleeding:
Desmopressin- This remedy is available as an injection known as DDAVP or nasal spray (Stimate). It’s a synthetic hormone, alike to the natural hormone vasopressin. It restrains bleeding by exciting your body to deliver more von Willebrand factor already deposited in the lining of the blood vessels. DDAVP is ordinarily efficient in people with type 1 and remarkable subtypes of type 2 disease of Von Willebrand Disease.
Many physicians consider DDAVP the first approach to use in the management of von Willebrand disease. Some women use the nasal spray at the start of their menstrual periods to manage excessive bleeding. It can also be useful when applied before a minor surgical procedure.
Replacement therapies- include infusions of prepared doses of concentrated blood-clotting factors comprising von Willebrand factor and factor VIII. These treatments can be useful for all disease types. Your physician may suggest them if DDAVP isn’t an option for you or was incapable.
Another replacement treatment approved by the FDA for managing adults 18 and older is a genetically superintended (recombinant) von Willebrand factor product (Vonvendi). Because recombinant factor is obtained without plasma, it may decrease the risk of a viral infection or allergic response.
Contraceptives-For females, these can be beneficial for controlling heavy bleeding throughout menstrual periods. The estrogen hormones present in birth control pills can increase levels of von Willebrand factor and factor VIII action. This result is likely available with birth control applications, though further study is required to confirm it.
Clot-stabilizing medications- Anti-fibrinolytic remedies — such as tranexamic acid (Cyklokapron, Lysteda, others) and aminocaproic acid (Amicar) — can help check to bleed by slowing the breakdown of blood clots. Physicians often prescribe these drugs before or following a surgical procedure or tooth removal.
Drugs applied to cuts- A fibrin sealant also known as the Tisseel VHSD, placed straight on a cut helps curtail bleeding. These items are applied like glue using syringes.
If you have VWD, it’s a safe idea to:
- Tell your doctor or dentist about your VWD if you’re expected to have an operation – you may require taking medicine to decrease the risk of bleeding before and afterwards.
- Tell your physician about your VWD if you require a vaccination – they can perform the injection exactly under your skin to withdraw painful bleeding in your muscles.
- Avoid aspirin and anti-inflammatory medications like ibuprofen except your specialist recommend you it’s secure to use them, as these can cause bleeding worse – use other drugs such as paracetamol instead.
Ask your specialist if any activities you require to avoid.
Von Willebrand Disease Complications
Von Willebrand disease Complications may include:
- Anaemia- Females who undergo heavy menstrual bleeding can exhibit iron deficiency anaemia.
- Swelling and pain-If unusual bleeding happen in the joints or soft tissue, swelling and sharp pain can occur.
- Death from bleeding-Rarely, with von Willebrand disease someone may experience uncontrolled bleeding that seat be life-threatening and requires emergency medical attention.