Bleeding Disorders

Bleeding disorders are a group of diseases that are characterized by abnormalities in the process of blood coagulation. Due to certain genetic or environmental factors, these derangements may be present at birth or acquired later in life. Whatever the reason, blood clot formation or natural bleeding control by the body is affected in each disease. 

Bleeding control that is also called hemostasis, is achieved in the body at two levels:

1. Primary hemostasis is done by platelets forming a platelet plug. 
2. Secondary hemostasis is done by a regulated pathway in which various factors and proteins are involved, resulting in the formation of blood clots eventually.

Bleeding disorders are caused by:

1. Complete absence or deficiency of blood clotting factors that may be acquired or hereditary.
2. Or vascular disorders that interfere with the normal blood clot formation pathway. These disorders are usually genetically acquired.

Bleeding disorders are classified according to the abnormality of blood clotting factors or proteins involved in the coagulation pathway or vascular diseases. The various types include:

Factor deficiencies or disorders

• Fibrinogen disorders
• Thrombophilic disorders
• Coagulation disorders: such as factor V deficiency, factor VII deficiency, factor X deficiency, factor XI deficiency, factor XII deficiency, factor XIII deficiency, Hemophilia A, Hemophilia B

Vascular disorders that include:

• Purpuras
• Disseminated Intravascular Coagulation (DIC)
• Collagen vascular disorders
• Due to abnormal circulating proteins, such as multiple myeloma, etc. 

Bleeding disorders are prevalent worldwide. They affect people of all ages and gender. Males are most affected by hemophilia A and B. Other bleeding disorders are more prevalent in females. They remain underdiagnosed, misdiagnosed, and undiagnosed in large parts of the world because severe bleeding only manifests during trauma or surgery, and minor symptoms such as epistaxis are generally ignored by treating physicians. 

Following are the risk factors for bleeding disorders:

1. Family history and genetics 
2. Oral contraception
3. Tissue damage 
4. Pregnancy 
5. Obesity
6. Lack of physical activity 
7. Trauma 
8. Surgical trauma 
9. Hypothyroidism 
10. Blood-thinning medications 
11. Female gender

Signs and symptoms of bleeding disorders include:

1. Anemia 
2. Frequent bruising 
3. Hemorrhage 
4. Thrombosis 
5. Intra Abdominal hemorrhage with severe abdominal pain
6. Joint pains and joint inflammation 
7. Blood in urine
8. Epistaxis (bleeding from the nose)
9. CNS bleeding

Complications of bleeding disorders include:

1. Profuse bleeding during surgical procedures that can be life-threatening
2. Spontaneous abortion
3. Postpartum thrombosis 
4. Toxic shock syndrome
5. Amniotic fluid embolism

Following tests are done to diagnose bleeding disorders:

• Complete blood count
• Prothrombin time (PTT) with activated prothrombin time (aPTT)
• Sometimes thrombin time (TT) may also be used
• Bleeding time 
• Clotting time
• Liver function tests

Specific tests for each disorder include:

• Fibrinogen antigen levels for fibrinogen disorders. To measure firmness and strength of clot, procedures such as thromboelastography may also be used
• Thrombophilic disorders are usually diagnosed by PCR testing
• Hemophilia A and B are diagnosed by assessing factor activity levels below 40% of the normal.

Differential diagnoses of bleeding disorders include:

1. Platelet disorders 
2. Vasculitis 
3. Leukemia 
4. Vitamin K deficiency 
5. Alcohol abuse 
6. Abuse 
7. Vitamin C deficiency 
8. Cushing’s disease 
9. Marfan syndrome 
10. Drug-induced

Treatment of bleeding disorders aims to treat the underlying condition or disorder, supportive management of bleeding complications, and treatment aimed at the blood coagulation pathway. 

1. Fibrinogen disorders are best treated by transfusing cryoprecipitate.
2. DIC can be corrected by platelet transfusions or by administering cryoprecipitate. Transfusions with heparin, dalteparin, and recombinant activated human factor VII may also be used. It is important to control the ongoing disease-causing DIC that may require surgical intervention such as excision of necrotic tissue or drainage of an abscess. Other important factors for treatment include temperature control, antibiotic therapy, and fluid replacement.
3. Transfusion with Fresh Frozen Plasma (FFP) can be done for coagulation disorders.  Plasma-derived factors can be used for treating deficiencies of factors X, XI, XIII, and IX. Antifibrinolytic drugs and desmopressin may also be used for treating these disorders.

The prognosis for bleeding disorders varies depending on the condition and the extent of systemic involvement. The consequences for some individuals can be simple, resulting in anemia or maybe lethal for some resulting in considerable morbidity and even death. People with bleeding disorders who are compliant with treatment and show extra care in day-to-day activities generally have a good prognosis. Outlook for people who are categorized as high responders is not hopeful.

• Inherited bleeding disorders can not be prevented in children whose parents are either carriers for them or have a strong family history. Genetic counseling should be offered to such families for effective management. 
• Some inherited bleeding disorders can be prevented by abstaining from cousin marriages, common in under-developed countries. 
• People with diagnosed bleeding disorders should be educated about their condition and adopt a healthy and safe lifestyle that does not make them vulnerable to bleeding. In case any complications develop, they should seek medical care immediately. 
• Children with bleeding disorders should be provided with extra protection against trauma in the form of safety belts, helmets, knee pads, and elbow pads, etc., to prevent them from bleeding. 
•  Women with bleeding disorders are at an increased risk of developing complications during pregnancy and afterward. They should take proper care and treatment during pregnancy to prevent them. 
• Certain bleeding disorders such as hemophilia are transferred from carrier mothers to newborn babies. If the mother is a known carrier, prenatal screening of the disease with procedures such as chorionic villous sampling (CVS) should be done for early detection and intervention.
• Vitamin K deficiency is most common in newborn babies, making them prone to bleeding. To prevent that, newborn babies should be given vitamin K injections shortly after birth.