Hemophilia

Hemophilia

Hemophilia is a set of bleeding diseases in which one or more components of the clotting processes are deficient. It is a sex-related, hereditary illness that only affects men in its classic form. Blood usually bleeds into muscles, joints, and mucous membranes. Inverse relationship between severity and factor level, as in:

• 1 -5\% moderate, bleeding after mild injury.
• < 1 \% severe, bleeding after minimal injury.

Types

• Hemophilia A- factors VIII deficiency (75%) v hemophilia.
• Hemophilia B (Christmas disease); factor deficiency (10% - 12%) of all hemophilia.
• Hemophilia C: factor XI deficiency (auto recessive, affects both sexes).

Pathophysiology of Hemophilia

Three mechanisms work together to facilitate he when a blood vessel is injured. (1) The blood v constricts to limit the volume of blood that is lost (2) circulating platelets form a plug at the site of injury (3) the blood undergoes coagulation.

For coagulation to occur, a number of clotting factor proteins must be activated sequentially. Because of this benefit, the platelet plug can be stabilized by a fibrin m that forms on top of it, allowing the vessel wall to heal.

Only two of the 13 proteins involved in the cascade process of coagulation—factors VIII and IX—are absent or insufficient, and the coagulation process will still begin but not finish: bleeding will continue for a long time while the platelet plug is unstable.

Signs and Symptoms

• Prolonged bleeding after minor injury
  • At birth after cutting of the cord,
  • Following circumcision,
  • Following IM immunization,
  • Following the loss of baby teeth,
  • Increased bruising as child learns to crawl and walk.
• Bruising and hematomas but no petechiae.
• Nose bleeds with no obvious cause.
• Hemarthrosis
  • Repeated bleeding in a joint results in a swollen and painful joint with limited mobility,
  • May result in contractures and possible degeneration of joints,
  • Knees, ankles, elbows, wrists are most often affected.
• Blood in urine or stool.

Emergency Signs and Symptoms

• Sudden pain, swelling, and warming of large joints and muscles of arms and legs,
• Bleeding from an injury if severe form of hemophilia Painful, lasting headache,
• Repeated vomiting,
• Extreme fatigue,
• Neck pain,
• Double vision.

Diagnosis

• Platelet function, count, BT and PT: normal
• Low factor VIII in hemophilia A, low factor IX in hemophilia B,
• aPTT: prolonged
• Prothrombin consumption: decreased
• Assays for specific clotting factors: abnormal
• DNA testing for hemophilia A will detect carriers of the disease
• Amniocentesis will diagnose hemophilia prenatally.

Treatment of Hemophilia

Treatment depends on the severity and site of bleeding and weight and height of the patient. Common treatment includes:

• Analgesic and corticosteroids to decrease pain and swelling
• Desmopressin to raise plasma levels of factor VIII
• Regular infusion of the deficient clotting factors

Nursing Management

• Control acute bleeding episode:
  • Apply ice compress for vasoconstriction,
  • Immobilize area to prevent clots from being dislodged,
  • Elevate affected extremity above the heart level,
  • Provide manual pressure or pressure dressing for 15 minutes,
  • Maintain a calm environment to decrease the pulse rate,
  • Administer hemostatic agent as ordered e.g. topical application of adrenalin,
  • Avoid sutures, cauterization, aspirin all exacerbate bleeding.
• Provide care for hemarthrosis:
  • Immobilize joint and control acute bleeding,
  • Elevate the joint in a slightly flexed position,
  • Avoid excessive handling of joints,
  • Administer analgesic as ordered; avoid aspirin,
  • Instruct to avoid weight bearing exercise for 48 hours after bleeding episode; if bleeding is in lower extremities,
  • Provide active and passive ROM exercises after bleeding is controlled (48 hours) as long as exercises don't cause pain or irritate the trauma site for bleeding and maintain bleeding.
• Monitor for bleeding  and maintain bleeding precautions.
• Assess neurological status.
• Prepare to administer factor VIII concentrate or desmopressin (DDAVP).
• Patient teaching:
  • Signs of internal bleeding, prevention of trauma, how to control bleeding,
  • Protective devices e.g. helmets, knee and elbow pads,
  • Availability of support/ counseling agency,
  • Activities; emphasizing the avoidance of contact sports,
  • Genetic counseling.