is von willebrand disease considered a rare disease

What is the difference between von williebrand and hemophilia?

Von Willebrand Disease vs Hemophilia

• Type 1 – this is an autosomal dominant variety of VW disease. There is a partial quantitative deficiency of the VWF
• Type 2 – type VW disease is also an autosomal dominant disorder characterized by a qualitative abnormality of the VWF
• Type 3 – there is a recessive inheritance which is associated with an almost complete deficiency of VWF.

How do I treat the acquired von Willebrand syndrome?

Substances

• Hemostatics
• Immunoglobulins, Intravenous
• Recombinant Proteins
• von Willebrand Factor
• recombinant FVIIa
• Factor VIIa
• Deamino Arginine Vasopressin

Is Aleve safe to take with von Willebrand disease?

Women with bleeding disorders should avoid taking non-steroidal anti-inflammatory drugs for period pain, unless prescribed by a doctor with expertise in VWD (ie, Naprosyn/naproxen, ibuprofen, etc – these have many brand names; ask your local pharmacist to check for you).

What causes von Willebrand disease (vWD) type 2N?

Type 2N von Willebrand disease (VWD) refers to patients with a factor VIII (FVIII) deficiency caused by a markedly decreased affinity of von Willebrand factor (VWF) for FVIII. It is inherited as an autosomal recessive trait but is clinically similar to mild hemophilia. The differential biologic diagnosis, which is of major importance for providing relevant genetic counseling and optimal treatment, is based on the measurement of plasma VWF capacity to bind FVIII.

Is von Willebrand disease considered a disability?

The condition is medically equal to a condition in the Listing of Impairments. If someone can prove that his or her von Willebrand disease is medically equal to any listing in the Listing of Impairments then that person may qualify for Social Security disability.

How serious is von Willebrand disease?

Von Willebrand factor helps blood cells stick together (clot) when you bleed. If there's not enough of it or it does not work properly, it takes longer for bleeding to stop. There's currently no cure for VWD, but it does not usually cause serious problems and most people with it can live normal, active lives.

How many people in the world have von Willebrand disease?

People with bleeding disorders global population 2020 In 2020, almost 210 thousand people were living with hemophilia worldwide. At that time a further 84 thousand people were living with von Willebrand disease.

Is Acquired von Willebrand disease rare?

Prevalence is unknown, but Acquired von Willebrand syndrome (AVWS) is a rare disease that is underdiagnosed, with just over 300 cases reported in the literature so far.

What is the life expectancy for von Willebrand disease?

The life expectancy for people with VWD is normal. What's more, some researchers are finding that mild VWD could be a health benefit. They explain it this way. Von Willebrand disease makes it more difficult for platelets to stick together.

Are you born with von Willebrand disease?

Most people who have VWD are born with it. It almost always is inherited, or passed down, from a parent to a child. VWD can be passed down from either the mother or the father, or both, to the child. While rare, it is possible for a person to get VWD without a family history of the disease.

Does von Willebrand make you tired?

The weakening, fatigue and other disruptive effects of VWD can be stopped. Even childbirth can be made safe for a mother and baby. If you have unexplained bleeding symptoms, remember to ask your doctor, “Could I have von Willebrand disease?”

Who is most likely to get von Willebrand?

Prevalence. Von Willebrand disease (VWD) occurs with equal frequency among men and women, affecting up to 1% of the general population. However, women are more likely to experience symptoms of VWD because of the increased bleeding it causes during their menstrual periods, during pregnancy, and after childbirth.

Can you have surgery with von Willebrand disease?

The results from this retrospective study indicate that surgery can be safely performed by providing adequate and timely hemostasis during and after the procedure in patients with vWD. Perioperative and postoperative bleeding complications are rare when patients are closely and carefully monitored.

Can you get the Covid vaccine if you have von Willebrand?

Patients with von Willebrand disease or a rare bleeding disorder should consult with their hematologist regarding special precautions prior to receiving the vaccination. All rare bleeding disorder patients (including those with thrombocytopenia and/or platelet function disorders) should be vaccinated.

Can I donate blood with von Willebrand disease?

Simply put, anyone with a bleeding disorder or symptoms of a bleeding disorder should not donate blood.

How common is acquired von Willebrand disease?

Acquired von Willebrand syndrome: data from an international registry. Our recent experience suggests that up to 4.5% of patients with a clinical and laboratory diagnosis of vWD may have the acquired form. Estimation of prevalence and natural history of acquired von Willebrand disease [abstract].

What is von Willebrand disease?

Related Pages. Von Willebrand disease (VWD) is a blood disorder in which the blood does not clot properly. Blood contains many proteins that help the blood clot when needed. One of these proteins is called von Willebrand factor (VWF). People with VWD either have a low level of VWF in their blood or the VWF protein doesn’t work the way it should.

What is VWD type 2?

Type 2. With this type of VWD, although the body makes normal amounts of the VWF, the factor does not work the way it should. Type 2 is further broken down into four subtypes―2A, 2B, 2M, and 2N―depending on the specific problem with the person’s VWF.

How long does VWD bleeding last?

This bleeding may be characterized in the following ways: After a cut to the skin, the bleeding lasts more than 5 minutes.

Why is VWF important?

Because the treatment is different for each type, it’s important that a person know which subtype he or she has. In Type 2A, the VWF is not the right size and doesn’t help the platelets attach together in order to form a clot. In Type 2B, the VWF attaches to platelets at the wrong time (when there is no injury).

How many people in the US have VWD?

This means that 3.2 million (or about 1 in every 100) people in the United States have the disease. Although VWD occurs among men and women equally, women are more likely to notice the symptoms because of heavy or abnormal bleeding during their menstrual periods and after childbirth.

What type of blood clotting protein is most common in VWD?

Type 1. This is the most common and mildest form of VWD, in which a person has lower-than-normal levels of VWF. A person with Type 1 VWD also might have low levels of factor VIII (8), another type of blood-clotting protein. About 85% of people treated for VWD have Type 1.

Does VWF work in blood?

People with VWD either have a low level of VWF in their blood or the VWF protein doesn’t work the way it should. Normally, when a person is injured and starts to bleed, the VWF in the blood attaches to small blood cells called platelets.

History and Disease Characteristics

Originally described by Erik von Willebrand in the Aland Islands, Finland, von Willebrand disease (vWD) is the most common inherited bleeding disorder with autosomal dominant transmission. 1 vWD is caused by a deficiency or dysfunction of the von Willebrand factor (vWF) protein.

Types of Von Willebrand Disease

vWD is classified as type 1 (partial quantitative vWF deficiency), type 2 (qualitative vWF deficiency), or type 3 (total vWF deficiency). Type 2 is further subdivided into 4 variants according to the qualitative characteristics of the dysfunctional vWF protein. These are labeled 2A, 2B, 2N, and 2M.

Etiology

vWD can be inherited or acquired. All 3 types listed above are hereditary forms of vWD. Children inherit type 1 or type 2 vWD from either parent. For type 3, a child must inherit the mutant gene from both parents.

Symptoms

Type 1 vWD, the most prevalent type, is characterized by mucocutaneous bleeding that is mild in comparison with the mild to moderate mucocutaneous bleeding found in types 2A, 2B, and 2M. Type 2N is characterized by symptoms similar to those of hemophilia A, which include excessive bleeding, especially postoperatively.

Epidemiology

vWD is estimated to affect 1 in every 100 to 10,000 people. 3 Because predominantly minor bleeding occurs in type 1 and type 2 vWD, it is suspected that these types are underdiagnosed because many affected individuals may not come to medical attention. 3 Type 1 vWD accounts for 60% to 80% of all cases. Type 2 accounts for 20% to 30% of cases.

Diagnosis

A personal and family history of bleeding raises the possibility of vWD. Screening tests measure plasma concentrations of vWF antigen (vWF:Ag), ristocetin cofactor (RCoF) activity, the prothrombin time (PT), factor VIII coagulant activity, and the activated partial thromboplastin time (aPTT) to confirm a diagnosis of vWD. 4

Treatment

Nontransfusional and transfusional compounds are the 2 main categories of medication used to treat vWD.

How is von Willebrand disease inherited?

How von Willebrand Disease Is Inherited. Most people who have von Willebrand disease (VWD) are born with it. VWD is caused by genetic changes that are almost always inherited (passed down) from a parent to a child. A person’s genes provide instructions on how to make proteins, such as the von Willebrand factor (VWF) protein.

How does VWD affect autosomal recessive inheritance?

In autosomal recessive inheritance, both parents have one VWD allele and one normal allele, but they don’t have the disorder; only a person with two VWD alleles will have the disorder. To have VWD, the child must get the VWD allele from both parents (1 in 4 chance, or 25%). A child may also get the VWD allele from one parent (1 in 2 chance, or 50%). If this happens, the child will not have VWD but can pass the VWD allele to his or her children. There is also a 1 in 4 (25%) chance that the child will not get a VWD allele; in this case, the child will not have VWD and can’t pass it down to his or her children.

What happens if one parent has type 1 VWD?

If one parent has severe type 1 VWD that was inherited from both of his or her parents, meaning that he or she has 2 VWD alleles, and the other parent does not have an allele that can cause VWD, all children will get only one VWD allele and have type 1 VWD that is less severe than the parent who has 2 VWD alleles.

What is each copy of a VWD called?

Each copy is called an allele. In people who have VWD, there is a change in the gene for making the VWF protein, called a VWD allele. VWD can be passed down from either the mother or the father or both parents to the child.

Can a child get a VWD allele?

A child may also get the VWD allele from one parent (1 in 2 chance, or 50%). If this happens, the child will not have VWD but can pass the VWD allele to his or her children. There is also a 1 in 4 (25%) chance that the child will not get a VWD allele; in this case, the child will not have VWD and can’t pass it down to his or her children. ...

Can a child pass VWD to his or her children?

There is also a 1 in 2 (50%) chance that the child will not get the VWD allele; in this case, the child will not have VWD and can’t pass it down to his or her children. Rarely, both parents may have VWD.

Can both parents have VWD?

Rarely, both parents may have VWD. When this happens, the child could get either one VWD allele and one normal allele and have VWD like the parents (1 in 2 chance, or 50%) or get two VWD alleles and have a more severe form of the disease than the parents (1 in 4 chance, or 25%).

Who Is Affected?

Types of VWD

Causes

Signs and Symptoms

Diagnosis

Treatments