HEMOPHILIA

• Hemophilia is a hereditary coagulation defect or a bleeding disorder, usually transmitted to affected male by female carrier through sex – linked recessive gene, resulting in prolonged clotting time.
• Bleeding occurs due to impaired ability to form fibrin clot
• Found predominantly, but not exclusive, in male offspring's
• Male inherits hemophilia from their mothers, and females inherit the carrier status from their fathers.

Etiology and types

• Hemophilia A or Classic Hemophilia
  • Most common type (3 times to B)
  • Due to factor VIII deficiency (called Antihemophilic Factor / AHF)
• Hemophilia B or Christmas Disease –
  • Due to factor IX deficiency (called the Christmas Factor)

 

Clinical Manifestations

• Abnormal bleeding in response to trauma or surgery. (Muscles/joints)
• Joint bleeding causing pain, tenderness, swelling, and limited range of motion.
• Hemarthrosis (bleeding in joints causing pain, swelling and limited movement)
• The most commonly affected joints are the knees, elbows, ankles, shoulders, wrists, and hips.
• Tendency to bruise easily.
• Epistaxis
• It recognize in early childhood, usually in the toddler age group.
• However, patients with mild hemophilia may not be diagnosed until they experience severe trauma or surgery.

INVESTIGATIONS

• Normal prothrombin time,
• Increased partial thromboplastin time.
• Specific coagulation factor assays can aid in the diagnosis of the type and severity of hemophilia
• CT scan - for suspected intracranial bleeding,
• Arthroscopy or arthrography - for certain joint problems, and
• Endoscopy - for GI bleeding.

MEDICAL MANAGEMENT

• Hemophilia is incurable, but treatment can prevent crippling deformities and prolong life.
• Replace deficient clotting factor with regular infusions.
  • In hemophilia-A, cryoprecipitate antihemophilic factor (AHF), lyophilized AHF, or both, given in doses large enough to raise clotting factor levels above 25% of normal, can permit normal hemostasis.
  • In hemophilia-B, administration of factor IX concentrate during bleeding episodes increases factor IX levels.
• Conservative: patient education. Avoid aspirin, NSAIDs, heparin and warfarin.
• DDVAP (Desmopressin) – promotes the release of Factor VIII in hemophilia A
• Use soft toothbrush and point out need for regular dental checkups
• Monitor for bleeding and maintain bleeding precautions.
• Monitor for joint pain;
• Immobilize the affected extremity if joint pains occur.
• Monitor urine for hematuria.

NURSING MANAGEMENT

Activity intolerance related to bleeding episodes.

• Demonstrate safety precautions while performing activities of daily living
• Avoid or seek assistance in performing activities that may cause a bleeding episode
• Avoid injury when performing activities.

Ineffective peripheral tissue perfusion related to impaired blood flow through a major vessel caused by bleeding.

• Implement measures to stop bleeding, or seek medical attention at the first sign of bleeding
• Maintain adequate tissue perfusion when bleeding occurs, as shown by a palpable pulse and normal skin color and temperature at and beyond the bleeding site.
• Watch for signs and symptoms of decreased tissue perfusion, such as restlessness, anxiety, confusion, pallor, cool and clammy skin, chest pain, decreased urine output, hypotension, and tachycardia.
• Monitor the patient's blood pressure and pulse and respiratory rates.
• Observe him frequently for bleeding from the skin, mucous membranes, and wounds.

Risk for deficient fluid volume related to bleeding.

• If the patient has surface cuts or epistaxis, apply pressure—commonly the only treatment needed. With deeper cuts, pressure may stop the bleeding temporarily.
• Cuts deep enough to require suturing may also require factor infusions to prevent further bleeding.
• Give the deficient clotting factor or plasma, as ordered. The body uses up AHF in 48 to 72 hours, so repeat infusions, as ordered, until the bleeding stops.
• Apply cold compresses or ice bags, and raise the injured part.
• To prevent recurrence of bleeding, restrict activity for 48 hours after bleeding is under control.
• Control pain with an analgesic, such as acetaminophen, propoxyphene, codeine, or meperidine, as ordered.
• Avoid I.M. injections because they may cause hematoma formation at the injection site. NSAIDs, aspirin, and aspirin-containing medications are contraindicated because they decrease platelet aggregation and may increase bleeding.
• If the patient cannot tolerate activities because of blood loss, provide rest periods between activities.
• If the patient has bled into a joint: (Rest, Immobilize, Cold Compress & Elevate)
  • Immediately elevate the joint.
  • Immobilize the joint.
  • To restore joint mobility, if ordered, begin ROM exercises at least 48 hours after the bleeding is controlled.
  • Tell the patient to avoid weight bearing until bleeding stops and swelling subsides.
  • Administer analgesics for the pain associated with hemarthrosis.
  • Also, apply ice packs and elastic bandages to alleviate the pain.
• During bleeding episodes, assess the patient for adverse effects to blood products, such as flushing, headache, tingling, fever, chills, urticaria, and anaphylaxis.

MANAGING BLEEDING IN HEMOPHILIA
Bleeding site	Signs and symptoms	Interventions
Intracranial	Change in personality or wakefulness (level of consciousness), headache, nausea	Instruct the patient and his family to notify the physician immediately, and treat symptoms as an emergency.
Muscles	Joint pain and swelling, joint tingling and warmth (at onset of hemorrhage)	Tell the patient to begin antihemophilic factor (AHF) infusions and then to notify the physician.
Joints (hemarthroses)	Pain and reduced function of affected muscle; tingling, numbness, or pain in a large area away from the affected site (referred pain)	Urge the patient to notify the doctor and to start an AHF infusion if the patient is reasonably certain that bleeding results from recent injury (otherwise, call the physician for instructions).
Subcutaneous tissue or skin	Pain, bruising, and swelling at the site (delayed oozing may also occur after an injury)	Show the patient how to apply appropriate topical agents, such as ice packs or absorbable gelatin sponges (Gel-foam), to stop bleeding.
Kidney	Pain in the lower back near the waist, decreased urine output	Instruct the patient to notify the physician and to start AHF infusion if bleeding results from a known recent injury.
Heart (cardiac tamponade)	Chest tightness, shortness of breath, swelling (usually occurs in patients who are very young or who have severe disease)	Instruct the patient to contact the physician or to go to the nearest emergency department at once.