Hemophilia: A Comprehensive Guide for Nursing Students

Nursing Care Attributes

  • Normal Clotting Time
  • Vasoconstriction
  • Formation of Platelet Plug
  • Coagulation Cascade
  • Formation of Insoluble Fibrin

Clotting Overview

  • A physiologic process in which blood is converted from a liquid to a semisolid gel.
  • Antecedents
    • PT, PTT, INR, Fibrinogen, Platelet Count, absence of D-Dimers
    • Hemo-Stasis or Trauma/Injury
    • Endothelial Damage
  • Sub-Concepts
    • Immunity
    • Gas Exchange
    • Mobility
    • Comfort
    • Perfusion
  • Interrelated Concepts
    • Positive Intracranial Regulation
    • Tissue/Vessel Integrity
  • Consequences (Outcomes)
    • Warm/normal Temperature and pulses
    • Hemorrhage
    • Hypo/Hyper-thermia
    • Hypoxia
    • Hypercoagulability
    • Venous Stasis
    • Normal Activity States
    • Limited Movement
    • Decreased Circulation
    • Pain

Course Overview

  • Disease Knowledge: Understanding hemophilia pathophysiology and risk factors
  • Clinical Assessment: History, physical examination, and diagnostic testing
  • Treatment Approaches: Medications, implementation, and nursing interventions
  • Patient Outcomes: Evaluation criteria and long-term management strategies

Hemophilia: Definition and Disease Process

  • Definition: A hereditary bleeding disorder caused by deficiency in specific clotting factors.
  • Types
    • Hemophilia A (Factor VIII deficiency)
    • Hemophilia B (Factor IX deficiency). Also known as Christmas Dx.
    • von Willebrand Disease
  • Severity Classification
    • Mild (>5% factor activity)
    • Moderate (1-5%)
    • Severe (<1%)

Risk Factors

  • Genetic Inheritance
    • X-linked recessive disorder primarily affecting males.
    • Females can have hemophilia (XXY) but it's rare.
    • Females are carriers.
    • Family History
      • Maternal carriers pass defective X chromosomes to male offspring.
      • Father with disease—all daughters are carriers.
      • Mother is a carrier—50% of boys will have the disease, and 50% of daughters will be carriers.
  • Spontaneous Mutation
    • About 30% of cases occur without family history.

Clotting Cascade and Hemophilia

  • Vessel Injury
    • Damage exposes subendothelial collagen.
  • Platelet Adhesion
    • Platelets attach to injury site.
  • Coagulation Cascade
    • Factor VIII or IX missing in hemophilia directly affecting fibrin formation.
  • Fibrin Formation
    • Incomplete without proper factors.

Disease Process

  • Initial Injury
    • Trauma or injury triggers normal clotting cascade.
  • Deficient Factors
    • Missing Factor VIII or IX prevents effective clot formation.
  • Prolonged Bleeding
    • Inadequate clotting leads to extended bleeding episodes.
  • Complications
    • Joint damage, tissue damage, and potential life-threatening hemorrhage.

Key Assessment Findings

  • Newborn Indicators
    • Prolonged bleeding at circumcision sites.
    • Excessive bruising at injection sites.
  • Childhood Manifestations
    • Disproportionate bruising from minor falls.
    • Spontaneous joint bleeds causing pain.
    • Bleeding with loss of baby teeth.
  • Adult Presentation
    • Persistent bleeding from minor trauma.
    • Hemorrhage after dental procedures.
  • Critical Signs
    • Hemarthrosis and compartment syndrome.
    • GI bleeds and intracranial hemorrhage.

Diagnostic Workup

  • PT/INR (extrinsic pathway)
  • PTT (intrinsic pathway)
  • Bleeding Time - prolonged in von Willebrand
  • Fibrinogen Level - the conversion of fibrinogen to fibrin in clotting
  • Platelet Count
  • Quantitative Immunoelectrophoretic Assay
  • Factor VIII and Factor IX assays
  • Bethesda Assay - measures the strength and presence of inhibitors to Factor VIII in Hemophilia A.

Laboratory and Diagnostic Testing

TestPurposeHemophilia Finding
PTTEvaluates intrinsic pathwayProlonged
PT/INREvaluates extrinsic pathwayNormal
Factor VIII AssayMeasures Factor VIII levelDecreased in Hemophilia A
Factor IX AssayMeasures Factor IX levelDecreased in Hemophilia B
Bleeding TimePlatelet functionNormal

Clinical Assessment: History Collection

  • Family history of bleeding disorders
  • Previous bleeding episodes
  • Medication history
  • Surgical history

Clinical Assessment: Physical Examination

  • Bruising patterns
  • Joint mobility
  • Evidence of active bleeding
  • Hemarthrosis signs

Clinical Assessment: Psychosocial Assessment

  • Treatment compliance
  • Support systems
  • Quality of life impacts
  • Home management

Focused Assessment with Hemophilia

  • For male newborns, look at circumcision sites and injection site for prolonged bleeding.
  • Excessive bruising (toddlers fall and bump into things often)
  • Family history of bleeding disorders
  • In adults watch for slow persistent bleeding from trauma and small cuts
  • Delayed hemostasis after minor trauma
  • Bleeding gums and significant bleeding with dental work or with normal tooth eruptions
  • Epistaxis
  • Hemarthrosis
  • GI bleeds
  • Compartment Syndrome

HEMOPHILIA Management Approaches

  • Inherited Blood Disorder (Factor VIII, Classic, or Type A)
  • No Cure
  • Avoid Injury & Meds That Promote Bleeding
  • Good Nutrition
  • Good Dental Hygiene
  • IV Administration Of Deficient Clotting Factor

HEMOPHILIA Common Symptoms

  • Intracranial Hemorrhage
  • Prolonged Nosebleeds
  • Bruises Easily
  • Warm, Painful, Swollen Joints With ↓ Movement
  • GI Hemorrhage

Common Patient Problems

  • Intracranial Hemorrhage
    • Life-threatening emergency requiring immediate intervention.
  • Hemarthrosis
    • Joint bleeding causing pain, swelling and potential deformity.
  • Muscle Hematomas
    • Blood accumulation in muscles causing compartment syndrome.
  • Gastrointestinal Bleeding
    • Can lead to significant blood loss and anemia.
  • Psychosocial Issues
    • Chronic disease management affecting quality of life.

Patient Problems

  • Risk for aspiration related to uncontrolled nosebleed.
  • Risk for deficient fluid volume r/t hemorrhage.
  • Impaired physical mobility r/t repeated hemarthroses AEB history of hemophilia dx and chronic right knee swelling.

Long-Term Management Strategies

  • Home Safety Modifications
    • Electric razors instead of blades.
    • Removal of sharp corners.
    • Protective padding.
  • Activity Modifications
    • Avoid contact sports.
    • Choose walking, swimming or golf.
    • Use appropriate protective gear.
  • Patient Education
    • Home factor replacement training.
    • Medical alert identification.
    • Bleeding recognition.
  • Multidisciplinary Approach
    • Hematologist, physical therapist, nurse, and social worker coordination.

Nursing Evaluation Criteria

  • Prevention of hemorrhage
    • Patient remains free of life- threatening bleeding episodes
  • Knowledge demonstration
    • Patient explains disorder, management, and chronic nature
  • Self-care proficiency
    • Patient demonstrates proper factor replacement technique
  • Follow-up adherence
    • Patient maintains regular clinic visits and monitoring

DDAVP

  • 1-diamino-8-d-arginine-vasopressin
  • DDAVP is a synthetic form of Vasopressin that increases Plasma Factor VIII
  • Effective for mild (but not severe) hemophilia
  • Not effective for Hemophilia B which is a factor IX deficiency
  • DDAVP can be given by IV or by intranasal spray and it works in about 30 minutes and lasts about 12 hours
  • Can be given before dental or surgical procedures

DDAVP Therapy

  • Mechanism of Action
    • Synthetic vasopressin increases plasma Factor VIII levels.
  • Clinical Application
    • Effective for mild Hemophilia A only. Not effective for Hemophilia B.
  • Administration
    • IV or intranasal spray. Works in 30 minutes. Lasts about 12 hours.
  • Nursing Considerations
    • Monitor fluid intake.
    • Watch for hyponatremia.
    • Assess bleeding response.

Factor Replacement Therapy

  • Replaces missing Factor VIII in Hemophilia A
  • Replaces missing Factor IX in Hemophilia B
  • 12 hrs Duration Average half-life of factor replacement
  • Cost Highly expensive treatment requiring insurance coverage

Factor VIII, products that contain factor VIII, pooled plasma, and recombinant products

  • Used to prevent and treat hemorrhage by replacing the missing clotting factors.
  • Antihemophilic factor (recombinant) (Advate) can be used to replace factor 8.
  • The clotting factor can be concentrated and purified from human donor blood from many different donors. The clotting factors can be purified from human donors or synthesized in the laboratory.
  • Administered by IV infusion
  • Treatment can require numerous infusions
  • Very expensive
  • Periodic infusion has proven effective in preventing bleeding complications.

Other Drugs used to treat Hemophilia

  • Corticosteroids
    • Used to treat hematuria, hemarthrosis and chronic synovitis.
    • Watch for GI bleed and infection. Infection Control measures.
  • E-aminocaproic acid (EACA)
    • Inhibits clot destruction
  • NSAIDS
    • Use with caution to treat chronic synovitis

Hemophilia Treatment Options

  • Evolution of Hemophilia Treatment
    • Investigational therapies (2015-)
      • Gene therapy
      • Novel agents
    • EHL clotting factors (2014-)
      • Humanized
      • Prolonged half-life (FVIII/FIX)
    • Recombinant Clotting Factors
      • Recombinant era
      • FVIII, FIX, FVIIa (1990s)
      • Biosimilars
      • Improved Safety
      • Eliminated potential for transmission of blood borne pathogens
    • Plasma-Derived Clotting Factors (1969)
      • Widespread viral contamination