World Hemophilia Day falls on 17thApril every year and is dedicated to stepping up awareness of hemophilia and other bleeding disorders. The key objective of this day is to create mass awareness of bleeding disorders, raise funds and improve treatment and care for victims of this condition.
This year, The World Federation of Hemophilia's (WFH's) has expanded its mission to step up awareness of various types of bleeding disorders, reflected in its theme "The Many Faces of Bleeding Disorders - United to Achieve Treatment for All". The WFH has gone the extra mile to encourage awareness campaigns in cities, organize events, and walkathons on this day in order to improve diagnosis, management and care for bleeding disorders.
AdvertisementUnderstanding Bleeding Disorders
Bleeding Disorders are also called clotting disorders. In simple terms, when one gets injured, it begins to bleed. The body mechanism kick starts the clotting process, which forms a blood clot to arrest bleeding. The clotting mechanism in the body is facilitated by 13 different blood components or proteins called factors and by cells called platelets. A bleeding disorder arises when there are insufficient amount of platelets or clotting factors in the body or they are not functioning properly.
Bleeding disorders can be inherited or acquired.
Inherited bleeding disorders are genetic and can run in families. It is fortunately a rare condition, triggered by the deficiency or improper function of a single coagulation or clotting factor. The most common inherited bleeding disorder is Hemophilia A triggered by the deficiency of factor VIII and Von Willebrand's disease triggered by deficiency of Von Willebrand factor. Hemophilia B is the second most common type of bleeding disorder, also known as factor IX deficiency or Christmas disease
Acquired bleeding disorders are more common and varied, triggered due to certain conditions like chronic liver disease, or due to side effects of some medications.
Some of the causes of Acquired bleeding disorders are:
· Vitamin K deficiency
· Liver dysfunction or disease
· Inability of Bone marrow to produce sufficient platelets
· Massive Blood transfusion
· Intake of certain drugs (quinine, sulfa antibiotics, may decrease number of platelets. Aspirin and nonsteroidal anti-inflammatory drugs may also have the same effect on platelets)
· Platelet count may decrease due to the presence of medical conditions such as leukemia, HIV, kidney failure, liver disease, multiple myeloma, and systemic lupus erythematosus
· Cardiopulmonary bypass surgery
Treatment of Acquired bleeding disorders
The underlying condition which has triggered the bleeding disorder needs to be resolved, and till such time the bleeding disorder may improve or worsen. For example, if the condition is caused by deficiency of Vitamin K, vitamin supplementation may restore normalcy. If the blood disorder is due liver disease or to a cancer, the condition will wax and wane according to the way the disease progresses. If the bleeding disorder is caused by the development of factor antibodies, increased amounts of factor replacements may be the solution. The treatment will be based on the underlying cause of the condition.
· The most common Bleeding disorder is Von Willebrand disease
· Victims of bleeding disorder can be both men and women, though the rare inherited blood disorder, Hemophilia A affects only men. Women are usually carriers of this condition.
· Access to adequate diagnosis and treatment is still deficient for victims of bleeding disorders.
· Carriers of inherited bleeding disorder can experience bleeding complications.
Inherited Bleeding Disorder - Hemophilia A, B and Von Willebrand Disease
Hemophilia A is a rare, X-chromosome linked bleeding disorder which primarily afflicts males. It is caused by the deficiency or complete absence of factor VIII in the blood. Women are carriers of this condition, and pass on the condition to male children. The severity of the bleeding disorder is dependent on the activity level of factor VIII - an extremely low level may trigger life-threatening bleeding. If the level is moderate, bleeding may occur only during surgeries or dental procedures.
Hemophilia B is the second most common type of bleeding disorder, also known as factor IX deficiency or Christmas disease, named after the first case diagnosed with the disorder. The condition is mostly genetic, although in thirty percent of cases, the condition shows up without any family history of the disease. Hemophilia B is causedby deficiency or complete absence of clotting factor IX. Hemophilia B can be mild or severe depending upon the level of clotting factor present in the blood.
· Uncontrolled bleeding after an injury, surgery, accident, or even tooth removal is the most common symptom.
· Unexplained bleeding inside the body
· Internal bleeding in the joints, elbows, knees
· Red mark or spot on the skin
· Bleeding can also happen in the brain which can be life threatening in the absence of immediate treatment.
· Other complications of hemophilia are hemorrhage, hemarthrosis, menorrhagia, and gastrointestinal bleeding
Blood coagulation tests to evaluate blood clotting as well as genetic tests are conducted to make a precise diagnosis.
Bleeding from hemophilia can have fatal consequences hence treating it is very important. The disease cannot be cured, but it can be treated with effective management and proper knowledge of the disease.
Replacement Therapy: This is an important method to treat hemophilia. It is done by replacing the missing or limited clotting factor. For Hemophilia A, clotting factor VIII is given. Hemophilia B needs clotting factor IX. The treatment involves preventive or prophylactic therapy, which is given in a regular basis. Demand therapy is given only when there is a need to stop bleeding.
Home treatment with replacement therapy: It is done by infusions into the veins. Home treatment helps in treating the patient faster, thereby reducing complications. Doctor visits are reduced and also the treatment is cost effective.
Desmopressin: A man-made factor Desmopressin (DDAVP) treats mild Hemophilia A. It stimulates the factor VIII and von Willebrand factor to increase the protein levels in the blood. Desmopressin is given by an injection or as nasal spray.
Antifibrinolytic medicines: It is a pill that keeps clots from breaking down. These pills are given before dental work, mouth or nose bleeding treatment and for mild intestinal bleeding.
Gene Therapy: Scientists are doing their best to correct the defective genes responsible for hemophilia. The therapy is still on a trial basis.
Von Willebrand disease
Von Willebrand's disease is quite a common blood coagulation disorder triggered by the deficiency or defect in the plasma protein, the von Willebrand factor. Von Willebrand factor is a protein which ensures platelets stick to the blood vessels in the injured area.
Bleeding easily, nose bleeding, gum bleeding, excessive bleeding after surgery, heavy menstrual bleeding, mucosal bleeding, gastrointestinal bleeding and Menorrhagia are some of the symptoms of the condition.
There are three distinct types of Von Willebrand's disease.
Type 1 VWD is a mild and common form of VWD, afflicting 3 out of 4 people diagnosed with the condition. This condition is characterized by low level of von Willebrand factor and factor VIII
Type 2 VWD is a condition caused by a dysfunctional von Willebrand factor or can be triggered by different gene mutations. Type 2 VWD can be of subtypes 2A, 2B, 2M, and 2N.
Von Willebrand factor is practically absent In Type 3 VWD, accompanied by low levels of factor VIII. This condition is rare but extremely severe.
Most victims of VWD have type 1 which does not cause serious complications. Treatment may be required only during surgery, trauma or during dental procedures. Proper diagnosis and treatment can help those with severe form of the disease to lead normal lives.
A combination of tests is required to diagnose Von Willebrand disease.
The tests will include Von Willebrand antigen test, Factor VIII clotting activity, Von Willebrand factor multimers and platelet function test to ascertain the function of the platelets. A hematologist may also be consulted to confirm the diagnosis. These tests may need to be performed several times to confirm the diagnosis.
Treatment for von Willebrand disease (VWD) is dependent on the type of VWD and its severity. Since most cases are not so severe, treatment may come into picture only during surgery, tooth extraction or an accident.
Desmopressin (DDAVP) is administered by injection or nasal spray activating the release of additional von Willebrand factor and factor VIII into the bloodstream. DDAVP treatment effectively treats most Type 1 cases and some Type 2 cases as well.
Von Willebrand factor replacement therapy is also used where a concentrate of von Willebrand factor and factor VIII is infused into a vein in the arm.
Finally, most bleeding disorders have no cure. The ideal way for most bleeding disorders is to diagnose, monitor and manage to avoid undue blood loss and associated complications. The type and extent of treatment will depend on the severity of the deficiency or condition.
Ideally, treatment for bleeding disorders must go beyond just enabling medicines. Education, assistance, and support for patients of blood disorder, especially inherited conditions like Hemophilia, are a must. Children with blood disorder need special attention to help them look beyond the condition and lead normal lives.