When anyone faces any small injury that causes blood to flow outside the body, then we observe that in most of the people there is a mechanism of the body that stops the flow of blood automatically by making a rough dark brown colored layer on the injured body part, this is called blood clotting and the layer called clot. Blood clotting is a part of a series of steps called hemostasis that involves the narrowing of blood vessels, platelet aggregation, clot formation, and the release of growth factors. Not only the clotting but all these events in a series are responsible for stopping the blood loss. Some people have rare medical conditions that impair the ability of the body to form a clot, which is crucial for stopping the blood loss. These medical conditions are referred to as bleeding disorders and can affect the quality of life of a person to such an extent that he/she should be in alert mode at all times to save the body from minor injuries; even a minor injury may be life-threatening for these people. Early diagnosis and appropriate treatment approach may improve the quality of life of the person suffering and can also help to manage the symptoms.
Bleeding disorders may be inherited from parents or may be acquired due to any disease or medicines. Hemophilia and von Willebrand disease are inherited disorders, this means that they are passed from parents to children through genes. Some patients face bleeding disorders due to the use of anticoagulant medicines in inappropriate doses and also due to liver diseases that impair the liver functions and lead to the deficiency of clotting factors along with increased bleeding risks. Bleeding time and clotting time of the blood are the basis of the examination for bleeding disorders. Prothrombin Time and International Normalized Ratio (PT INR) is the test that is used for diagnosis of clotting factors.
Understanding the potential risks of bleeding disorders and taking in the aspect of improving the quality of life of patients by increasing awareness about the disorders, symptoms, and early diagnosis, every year March is dedicated to Bleeding Disorders Awareness Month.
Common Types of Bleeding Disorders
Hemophilia
Hemophilia is a genetic bleeding disorder in which the deficiency of blood clotting factors leads to prolonged bleeding, even on minor injuries, because blood doesn't clot properly. It is a rare but serious disease that mainly affects males due to its X-linked recessive inheritance pattern, and females are only carriers of it because it is a recessive disease. Mutation in the genes responsible for the production of clotting factors, proteins essential for clotting, causes hemophilia. Deficiency of clotting factor VIII is Hemophilia A, and the deficiency of clotting factor IX is Hemophilia B.
The symptoms of hemophilia are excessive bleeding after a minor cut, surgery, or dental procedure. Frequent bruising, blood in stool and urine, and prolonged nosebleeds are also observed in patients suffering from hemophilia. Persistent bleeding after vaccination shots in children and bleeding from the mouth after minor injury when playing with toys.
Hemophilia can not be prevented, but genetic testing is necessary for people with hemophilia and their children to determine the risks of passing and developing this genetic disorder. A permanent cure is not available till now, researchers are working to develop one by gene therapy. Replacement therapy is used in people with severe hemophilia if their body doesn’t produce antibodies against the replaced or recombinant clotting factors administered. Antifibrinolytic medicines can also be used for treatment and avoiding NSAIDs, aspirin is advised to the patients.
Von Willebrand Disease (VWD)
The Von Willebrand factor is a stabilizing protein that helps in the binding of platelets and stabilizes clotting factor VIII. The deficiency or dysfunctioning of this protein is referred to as Von Willebrand disease. Both males and females can be affected by this genetic bleeding disorder because its inheritance pattern is autosomal dominant. The primary reason for the development of Von Willebrand disease is a mutation in the VWF gene; it may also develop due to the production of autoantibodies against this factor in case of an auto-immune disorder. It can be diagnosed by the Von Willebrand factor antigen test, the platelet aggregation test, genetic testing, factor VIII activity testing, etc. Symptoms of the disease are the same as that in hemophilia; it also includes heavy menstrual flow during periods, iron deficiency anaemia, and heavy bleeding after parturation.
For treatment, synthetic hormones are administered in patients that regulate the release of the VW factor and factor VIII. When synthetic hormones seem to be inefficient, then replacement therapy can be used to treat the patient. Antifibrinolytic medicines and hormonal therapy is advised for women to control and regulate the menstrual flow.
Vitamin K Deficiency
Vitamin K is a nutrient essential for blood clotting, Its deficiency is more common in newborns and people with certain medical conditions and less common in healthy adults. Poor diet, malabsorption, liver disease, celiac disease, medicines that interfere with vitamin K absorption, and deficiency at the time of birth count for this acquired bleeding disorder. It can be diagnosed by PT INR test and from the history of the patient regarding diet, medication, and other medical conditions. It can be treated by management of underlying medical conditions, dietary changes, and by use of vitamin K supplements. It can be prevented by a balanced diet if not caused by any medical condition.
Platelet Function Disorders
When there is any disturbance in the number of platelets, functioning of platelets, or both the number of platelets and functioning of platelets, this condition is referred to as platelet function disorder. Platelet function disorder can be acquired by certain medications or autoimmune disorders, and it may be inherited due to any genetic mutation. Platelets in such conditions fail to form a strong clot, which leads to excessive bleeding. This condition can be diagnosed by certain tests such as complete blood count, platelet functioning test, genetic testing, bleeding time, and clotting time test. Its treatment depends on its etiology, either the disorder is genetic or it is acquired.