Von Willebrand disease and Hemophilia are two rare hematological diseases which are most often due to the deficiency of various components involved in the clotting pathway. The key difference between Von Willebrand disease and Hemophilia is that, in Von Willebrand disease, there is a deficiency of the Von Willebrand factor whereas, in hemophilia, there is either a deficiency of factor VIII or factor IX.
CONTENTS
1. Overview and Key Difference
2. What is Von Willebrand Disease
3. What is Hemophilia
4. Similarities Between Von Willebrand Disease and Hemophilia
5. Side by Side Comparison – Von Willebrand Disease vs Hemophilia in Tabular Form
6. Summary
What is Von Willebrand Disease?
Von Willebrand disease is due to a quantitative or qualitative abnormality of the Von Willebrand factor. The resultant factor VIII deficiency and abnormal platelet functions are the characteristic features of it. The gene responsible for the coding of VWF is in the chromosome 12 and various mutations of this gene are the cause of VW disease.
Types of Von Willebrand Disease
There are 3 main types of VW diseases:
- 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.
Figure 01: Clotting Pathway
Signs and Symptoms
The signs and symptoms vary depending on the type of the disease. Types 1 and Type 2 have relatively mild symptoms. Profuse bleeding following a minor trauma, epistaxis and menorrhagia are the predominant clinical features. Hemarthroses can rarely be present. In type 3 disease, the patient can have severe bleedings but there are no hemorrhages into muscles and joints.
Treatment
Treatment is similar to that of mild hemophilia although there can be changes depending on various clinical circumstances. Desmopressin is usually used whenever there is a possibility. Some plasma-derived factor VIII concentrates are sometimes infused to the patient.
What is Hemophilia?
Hemophilia is a hematological disorder that is almost exclusively seen in males. In a majority of the cases, this disease is due to the deficiency of clotting factor VIII; in which case, it is known as classic hemophilia or hemophilia A. The other less frequently seen form of hemophilia, which is known as hemophilia B, is due to the deficiency of clotting factor IX.
The inheritance of both these factors is through the female chromosomes. Consequently, the chance of a female getting hemophilia is extremely low since it is unlikely for both of their chromosomes to be mutated simultaneously. The women whose only one chromosome is deficient are called hemophilia carriers.
Figure 02: Hemophilia
Clinical Features
- Severe hemophilia (factor concentration is less than 1IU/dL)
This is characterized by spontaneous bleeding from early life typically into the joints and muscles. If not treated properly the patient can get joint deformities and can even be crippled.
- Moderate hemophilia ( factor concentration is between 1-5 IU/dL)
This is associated with severe bleeding following an injury and occasional spontaneous bleedings.
- Mild hemophilia (factor concentration is more than 5 IU/dL)
There are no spontaneous bleedings in this condition. Bleeding occurs only after an injury or during surgeries.
Investigations
- Prothrombin Time is normal
- APTT is increased
- The factor VIII or factor IX levels are abnormally low
Treatment
- Intravenous infusion of factor VIII or factor IX is administered to normalize their levels
The half-life of factor VIII is 12 hours. Therefore, it has to be administered at least twice a day to maintain the appropriate levels. On the other hand, it is sufficient to infuse factor IX once in a week because it has a longer half-life of 18 hours.
What are the Similarities Between Von Willebrand Disease and Hemophilia?
- Both are hematological disorders.
- Both are due to genetic mutations in the relevant genes.
What is the Difference Between Von Willebrand Disease and Hemophilia?
Von Willebrand Disease vs Hemophilia |
|
| Von Willebrand disease is due to a quantitative or qualitative abnormality of the Von Willebrand factor. | Hemophilia is a hematological disorder that is almost exclusively seen in males. |
| Mutation | |
| There is a quantitative or qualitative abnormality of the VWF. | There is a deficiency of either factor VIII which causes hemophilia A or factor IX which gives rise to hemophilia B |
| Types | |
|
The two forms of hemophilia are hemophilia A and B, which are due to the deficiency of factor VIII and IX respectively. |
| Symptoms and Signs | |
| The symptoms and signs vary depending on the type of the disease.
Types 1 and 2 have relatively mild symptoms. Profuse bleeding following a minor trauma, epistaxis and menorrhagia are the predominant clinical features. Hemarthroses can rarely be present. In type 3 disease, the patient can have severe bleedings but there are no hemorrhages into muscles and joints. |
Severe hemophilia (factor concentration is less than 1IU/dL)
This is characterized by spontaneous bleeding from early life typically into the joints and muscles. If not treated properly the patient can get joint deformities and can even be crippled. Moderate hemophilia ( factor concentration is between 1-5 IU/dL) This is associated with severe bleeding following an injury and occasional spontaneous bleedings. Mild hemophilia (factor concentration is more than 5 IU/dL) There are no spontaneous bleedings in this condition. Bleeding occurs only after an injury or during surgeries. |
| Treatment | |
| Treatment is similar to that of mild hemophilia although there can be changes depending on various clinical circumstances.
Desmopressin is usually used whenever there is a possibility. Some plasma-derived factor VIII concentrates are infused to the patient sometimes. |
Intravenous infusion of factor VIII or factor IX is administered to normalize their levels.
The half-life of factor VIII is 12 hours. Therefore, it has to be administered at least twice a day to maintain the appropriate levels. On the other hand, it is sufficient to infuse factor IX once in a week because it has a longer half-life of 18 hours. |
Summary – Von Willebrand Disease vs Hemophilia
Von Willebrand disease and hemophilia are two bleeding disorders that are caused by genetic mutations. Von Willebrand disease is caused by a deficiency of the Von Willebrand factor whereas hemophilia is caused by a deficiency of factor VIII or factor IX. There is a considerable difference between Von Willebrand disease and hemophilia although they share some common features.
Reference:
1. Kumar, Parveen J., and Michael L. Clark. Kumar & Clark clinical medicine. Edinburgh: W.B. Saunders, 2009.
Image Courtesy:
1. “Coagulation full” By Joe D – Own work (CC BY-SA 3.0) via Commons Wikimedia
2. “Hemophilia 02” By National Heart Lung and Blood Institute (NIH) – National Heart Lung and Blood Institute (NIH) (Public Domain) via Commons Wikimedia