Hemophilia Symptoms and Treatment
- Usually an inherited, congenitalbleeding disorder characterized by lack of blood clotting factors, especially factors VIII and IX
- An X-linked disorder primarily affecting males; females act as carriers
- Occurs in 1 in 5000 males
- No racial predilection; found in all ethnic groups
Pathophysiology and Etiology
- Spontaneous mutations may cause the condition when the family history is negative for the disease.
- The basic defect is in the intrinsic phase of the coagulation cascade. The blood clotting factors are necessary for the formation of prothrombin activator, which acts as a catalyst in theconversion of prothrombin to thrombin.
- The rate of formation of thrombin from prothrombin is almost directly proportional to the amount of prothrombin activator available.
- The rapidity of the clotting process is proportional to the amount of thrombin formed.
- The result is an unstable fibrin clot.
- Platelet function and number are normal. Therefore, small lacerations and minor hemorrhages are usually not a problem.
Signs and Symptoms
- Abnormal bleeding
- Prolonged bleeding episodes after circumcision
- Easily bruise
- Spontaneous soft tissue hematomas
- Hemarthrosis or hemorrhages on the joints
- Spontaneous hematuria
- GI bleeding
- prothrombin and bleeding time are normal
- partial thromboplastin time – prolonged
- prothrombin consumption – decreased
- thromboplastin – increased
- assays for specific clotting factors – abnormal
- gene analysis – detects carrier state for prenatal diagnosis
- Prompt, early, appropriate treatment is the key to preventing most complications.
- Must replace missing coagulation factor (VIII or IX) through the administration of type-specific coagulation concentrates during bleeding episodes.
- Factor VIII – made from cryoprecipitate that has been viral inactivated, monoclonal or detergent purified.
- Factor IX – made from fresh frozen plasma that has been viral inactivated by solvent detergent.
- No viral inactivated concentrate exists for Hemophilia C; fresh frozen plasma is given to supply factor XI.
- Mild and moderate VIII-deficient hemophiliacs may respond to desmopressin (DDAVP).
- Antifibrinolytics are given as adjunctive therapy for mucosal bleeding to prevent clot breakdown.
- Supportive therapies: NSAIDs, physical therapy, orthotics.
- Synovecty – orthopedic surgical intervention.
- airway obstruction
- degenerative joint changes with osteoporosis and muscle atrophy
- intestinal obstruction
- compression of nerves by paralysis
- intracranial bleeding
- Provide emergency care for bleeding.
- Immobilize the affected part and elevate above the level of the heart.
- Administer recombinant factor VIII or factor IX coagulation concentrate.
- Apply fibrinolytic agents to wound for oral bleeding.
- Avoid rectal thermometers.
- Avoid injections if possible.
- Maintain a safe environment and teach patients and parent safety measures.
- Be aware that increased pain usually means that bleeding continues and further replacement therapy may be needed.
- Enhance family coping.
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