The Student with HemophiliaThe Student with Hemophilia

Ellen White RN BSNEllen White RN BSNYvette Menga LSWYvette Menga LSW

What is Hemophilia?What is Hemophilia?

Hemophilia is an inherited bleeding Hemophilia is an inherited bleeding disorder in which there is a deficiency or disorder in which there is a deficiency or lack of factor VIII (hemophilia A) or factor lack of factor VIII (hemophilia A) or factor IX (hemophilia B)IX (hemophilia B)

Clinical CharacteristicsClinical Characteristics

Internal bleeding into joints, muscles and Internal bleeding into joints, muscles and major organsmajor organsDepending on the factor level bleeding can Depending on the factor level bleeding can be spontaneous or caused by traumabe spontaneous or caused by traumaBleeds longer not faster Bleeds longer not faster Soft tissue bleedsSoft tissue bleedsHematomasHematomas

Hemophilia Treatment Center Team Hemophilia Treatment Center Team MembersMembers

Patient / FamilyPatient / Family

HematologistHematologistPediatricPediatric

AdultAdult

NurseNurse

Social WorkerSocial Worker

Physical TherapistPhysical Therapist

OrthopedistOrthopedist

Primary CarePrimary Care

GeneticsGenetics

Home Care Home Care CompanyCompany

DentalDental

Role of Hemophilia Treatment CenterRole of Hemophilia Treatment Center

State-of-the-art medical treatment for State-of-the-art medical treatment for persons with hemophilia through the life persons with hemophilia through the life spanspanEducationEducationResearchResearchOutreachOutreachModel of comprehensive care for Model of comprehensive care for chronic diseasechronic disease

ServicesServices

MedicalMedicalNursingNursingPsychosocialPsychosocialPhysical therapyPhysical therapyDental servicesDental servicesDiagnostic laboratory servicesDiagnostic laboratory servicesGenetic counseling and testingGenetic counseling and testing

Types of Bleeding DisordersTypes of Bleeding Disorders

Hemophilia A (factor VIII deficiency)Hemophilia A (factor VIII deficiency)

Hemophilia B (factor IX deficiency)Hemophilia B (factor IX deficiency)

IncidenceIncidence

Hemophilia A: 1:5000 male birthsHemophilia A: 1:5000 male births

Hemophilia B: 1:30,000 male birthsHemophilia B: 1:30,000 male births

School IssuesSchool Issues

Frequent absencesFrequent absences– Hard to catch upHard to catch up– Decreased peer supportDecreased peer support

Activity restrictionsActivity restrictions– No contact sportsNo contact sports– Immobilization during bleeding episodesImmobilization during bleeding episodes

PainPain– Chronic/acute Chronic/acute

How Blood ClotsHow Blood Clots

Blood vesselsBlood vessels

PlateletsPlatelets

Plasma coagulation systemPlasma coagulation system

Proteolytic or Fibrinolytic systemProteolytic or Fibrinolytic system

HemostasisHemostasis

VasoconstrictionVasoconstrictionPlatelet plug formationPlatelet plug formation

Clotting cascade activated to form fibrin Clotting cascade activated to form fibrin

clotclot

Coagulation CascadeCoagulation Cascade

Hoffman et al. Hoffman et al. Blood Coagul FibrinolysisBlood Coagul Fibrinolysis 1998;9(suppl 1):S61. 1998;9(suppl 1):S61.

TF-Bearing CellTF-Bearing Cell

Activated PlateletActivated Platelet

PlateletPlateletTFTF

VIIIaVIIIa VaVa

VIIIaVIIIa VaVa

VaVa

VIIaVIIa

TFTF VIIaVIIa XaXa

XX IIIIIIaIIa

IXIXVV VaVa

IIII

VIIIVIII/vWF/vWF

VIIIaVIIIa

IIII

IXaIXa

XXIXIX

XX

IXaIXa

IXaIXaVIIaVIIaXaXa

IIaIIa

IIaIIa

XaXa

Bleeding in HemophiliaBleeding in Hemophilia

VasoconstrictionVasoconstrictionPlatelet plug formationPlatelet plug formation

The clotting cascade is not activated a The clotting cascade is not activated a

fibrin clot does not form fibrin clot does not form

Bleeding will continueBleeding will continue

InheritanceInheritanceHemophilia A and B are X-linked recessive Hemophilia A and B are X-linked recessive disordersdisordersHemophilia is typically expressed in males and Hemophilia is typically expressed in males and carried by femalescarried by femalesSeverity level is consistent between family Severity level is consistent between family membersmembers30 % of cases of hemophilia are new mutations30 % of cases of hemophilia are new mutationsAffects all races and ethnic groups equallyAffects all races and ethnic groups equallyModerate & mild deficiencies under-diagnosedModerate & mild deficiencies under-diagnosed

GeneticsGenetics

Affected malesAffected males– All daughters are carriersAll daughters are carriers– No sons are affectedNo sons are affected

Female carrierFemale carrier– 50% risk for carrier 50% risk for carrier

daughterdaughter– 50% risk for affected son50% risk for affected son

Clinical AspectClinical Aspect

Type and Severity Type and Severity

Normal factor VIII or IX level 50-150%Normal factor VIII or IX level 50-150%

Mild hemophiliaMild hemophilia– factor VIII or IX level 5-50% factor VIII or IX level 5-50%

Moderate hemophiliaModerate hemophilia– factor VIII or IX level 1-5%factor VIII or IX level 1-5%

Severe hemophiliaSevere hemophilia– factor VIII or IX level <1%factor VIII or IX level <1%

First Bleed/DiagnosisFirst Bleed/Diagnosis

MildMild– Often has bleeds at an earlier age but not Often has bleeds at an earlier age but not

identified till later in life, 3 to 14 years or olderidentified till later in life, 3 to 14 years or older

ModerateModerate– usually before 2 yearsusually before 2 years

SevereSevere– within first yearwithin first year

Bleeding Pattern MildBleeding Pattern Mild

Once a year Once a year Joint and muscle bleed unusual except Joint and muscle bleed unusual except with significant trauma with significant trauma Trauma-induced or contact sports: Trauma-induced or contact sports: significant hematomassignificant hematomasInternal deep bleeding only with Internal deep bleeding only with significant traumasignificant traumaPost op bleeding Post op bleeding

CarriersCarriers

Carriers may have low factor levelsCarriers may have low factor levelsCarriers may experience bleeding Carriers may experience bleeding symptoms seen in mild or moderate symptoms seen in mild or moderate deficient statesdeficient statesTreat carriers as potential bleedersTreat carriers as potential bleeders

Bleeding Pattern ModerateBleeding Pattern Moderate

Bleeds once a month Bleeds once a month Minor trauma causes joint and muscle Minor trauma causes joint and muscle bleedbleedmay have target jointsmay have target jointsPost surgical: wound hematoma or oozing Post surgical: wound hematoma or oozing

Bleeding Pattern SevereBleeding Pattern Severe

Bleeds once a weekBleeds once a weekSpontaneous joint and muscle bleedSpontaneous joint and muscle bleed““Target joints”Target joints”

Types of Bleeds Treatment and Types of Bleeds Treatment and ManagementManagement

Types of BleedsTypes of Bleeds

Joint bleeding - hemarthrosisJoint bleeding - hemarthrosis

Muscle hemorrhageMuscle hemorrhage

Soft tissueSoft tissue

Life threatening-bleedingLife threatening-bleeding

Other common bleedingOther common bleeding

Joint or Muscle BleedingJoint or Muscle Bleeding

SymptomsSymptoms– Tingling or bubbling sensationTingling or bubbling sensation– StiffnessStiffness– WarmthWarmth– PainPain– Unusual limb positionUnusual limb position

Treatment of HemophiliaTreatment of HemophiliaReplacement of missing clotting protein Replacement of missing clotting protein Intravenous infusionIntravenous infusion– On demandOn demand– Prophylaxis Primary/SecondaryProphylaxis Primary/Secondary

Factor VIII ConcentrateFactor VIII Concentrate

Intravenous infusionIntravenous infusion– IV pushIV push

Dose varies depending on type of bleedingDose varies depending on type of bleeding– Ranges from 20-50+ units/kg. body weightRanges from 20-50+ units/kg. body weight

Half-life 8-12 hoursHalf-life 8-12 hoursEach unit infused raises serum factor VIII Each unit infused raises serum factor VIII level by 2 %level by 2 %

DDAVPDDAVP ( (Desmopressin acetate) Desmopressin acetate)

Synthetic vasopressinSynthetic vasopressinMethod of action - Method of action - – release of stores from endothelial cells raising release of stores from endothelial cells raising

factor VIII and vWD serum levelsfactor VIII and vWD serum levelsAdministration -Administration -– IntravenousIntravenous– SubcutaneouslySubcutaneously– Nasally (Stimate)Nasally (Stimate)

Stimate Stimate ®®

DosingDosing– Every 24-48 hours prn not to be used Every 24-48 hours prn not to be used

more than three days in a row more than three days in a row – <50 kg. body weight - 1 spray (150 <50 kg. body weight - 1 spray (150

mcg.)mcg.)– >50 kg. body weight - 2 sprays (300 >50 kg. body weight - 2 sprays (300

mcgmcg.).)

Factor IX ConcentrateFactor IX Concentrate

Intravenous infusionIntravenous infusion– IV pushIV push

Dose varies depending on type of bleeding Dose varies depending on type of bleeding – Ranges from 20-100+ units/kg. body weightRanges from 20-100+ units/kg. body weight

Half-life 12-24 hoursHalf-life 12-24 hoursEach unit infused raises serum factor IX Each unit infused raises serum factor IX level by 1%level by 1%

Minor Bleeding EpisodesMinor Bleeding EpisodesEarly joint bleedsEarly joint bleedsSoft tissue & muscle bleedsSoft tissue & muscle bleedsNose & gum bleeding not Nose & gum bleeding not responding to local measuresresponding to local measuresTreatment of minor bleeding Treatment of minor bleeding episodesepisodes– 40 - 50% correction40 - 50% correction– FVIII : 20 - 25 units / kgFVIII : 20 - 25 units / kg– FIX : 40 - 50 units / kgFIX : 40 - 50 units / kg

Major Bleeding EpisodesMajor Bleeding EpisodesHead & neck injuries Head & neck injuries Advanced soft tissue & muscle bleedsAdvanced soft tissue & muscle bleedsAbdominal bleedingAbdominal bleedingAdvanced joint bleedingAdvanced joint bleedingTreatment of major bleeding episodesTreatment of major bleeding episodes• 100 % correction100 % correction• FVIII : 50 units / kgFVIII : 50 units / kg• FIX : 100 units / kgFIX : 100 units / kg

Primary ProphylaxisPrimary Prophylaxis

– Scheduled infusion therapy at an early age Scheduled infusion therapy at an early age before bleeding has regularly occurred to before bleeding has regularly occurred to convert patient from severe deficient state to convert patient from severe deficient state to moderate deficientmoderate deficient

– Goal: suppression of spontaneous bleeding Goal: suppression of spontaneous bleeding episodesepisodes

– Frequency: 2 to 3 times weekly to keep trough Frequency: 2 to 3 times weekly to keep trough factor VIII or IX levels at 2-3%factor VIII or IX levels at 2-3%

– Use of IVAD necessary in some patientsUse of IVAD necessary in some patients

Secondary ProphylaxisSecondary Prophylaxis– Scheduled infusion therapy at any age Scheduled infusion therapy at any age

after bleeding has regularly occurred or after bleeding has regularly occurred or after injury to convert patient from severe after injury to convert patient from severe deficient state to moderate deficientdeficient state to moderate deficient

– Prior to sports activity Prior to sports activity – Goal: suppression of spontaneous Goal: suppression of spontaneous

bleeding episodes or rebleeding bleeding episodes or rebleeding – Frequency: 2 to 3 times weekly to keep Frequency: 2 to 3 times weekly to keep

trough factor VIII or IX levels at 2-3%trough factor VIII or IX levels at 2-3%– Use of IVAD necessary in some patientsUse of IVAD necessary in some patients

Morbidity of Chronic DiseaseMorbidity of Chronic Disease

School absenteeism increased in children School absenteeism increased in children with severe Hemophilia compared to normal with severe Hemophilia compared to normal populationpopulation– Difficulty attending to task if in painDifficulty attending to task if in pain– Ability to achieve potential and find a Ability to achieve potential and find a

productive appropriate place in work forceproductive appropriate place in work force– Number of bleeding episodes impacts Number of bleeding episodes impacts

ability to achieve potentialability to achieve potentialProphylaxis decrease morbidity of chronic Prophylaxis decrease morbidity of chronic diseasedisease

Adjunctive Therapy Adjunctive Therapy RICERICE– RRest /Replacement est /Replacement – IIce/ce/IImmobilizationmmobilization– CCompressionompression– EElevationlevationAntifibrinolytic AgentsAntifibrinolytic Agents– Amicar Amicar ®® (aminocaproic acid) (aminocaproic acid)

Used for mucocutaneous bleedingUsed for mucocutaneous bleeding

Dosing: 50 mg./kg. q. 6 hours po Dosing: 50 mg./kg. q. 6 hours po

Bleeding EpisodesBleeding Episodes

Life-Threatening BleedingLife-Threatening BleedingHead / IntracranialHead / Intracranial– Nausea, vomiting, headache, drowsiness, confusion, Nausea, vomiting, headache, drowsiness, confusion,

visual changes, loss of consciousnessvisual changes, loss of consciousness

Neck and ThroatNeck and Throat– Pain, swelling, difficulty breathing/swallowingPain, swelling, difficulty breathing/swallowing

Abdominal / GIAbdominal / GI– Pain, tenderness, swelling, blood in the stoolsPain, tenderness, swelling, blood in the stools

Iliopsoas MuscleIliopsoas Muscle– Back pain, abdominal pain, thigh tingling/numbness, Back pain, abdominal pain, thigh tingling/numbness,

decreased hip range of motiondecreased hip range of motion

Joint BleedsJoint Bleeds

Most common bleeding manifestationMost common bleeding manifestationMost common joint Knees, Ankles, Elbows Most common joint Knees, Ankles, Elbows Collection of blood in joint space may cause joint to feel Collection of blood in joint space may cause joint to feel hot hot Initial symptoms of “tingling” or “bubbling” sensationInitial symptoms of “tingling” or “bubbling” sensationEarly sign: reluctance to move, swelling and joint pain as Early sign: reluctance to move, swelling and joint pain as bleeding progressesbleeding progressesAffected joint held in flexed position Affected joint held in flexed position Usually no visible cutaneous bruisingUsually no visible cutaneous bruisingTreat with replacement factor, rest, ice,compression and Treat with replacement factor, rest, ice,compression and immobilizationimmobilization

Advanced Joint BleedAdvanced Joint Bleed

Complications Joint BleedsComplications Joint Bleeds

Flexion contracturesFlexion contractures

Joint arthritis / arthropathyJoint arthritis / arthropathy

Chronic painChronic pain

Muscle atrophyMuscle atrophy

X-Ray of severe joint damage from recurrent X-Ray of severe joint damage from recurrent hemarthrosishemarthrosis

Muscle BleedingMuscle Bleeding

Second common bleeding manifestationSecond common bleeding manifestation

Bleeding leg, thigh, calf, forearm, and groin create Bleeding leg, thigh, calf, forearm, and groin create pressure on nervespressure on nerves

Early sign: reluctance to move, swelling and pain as Early sign: reluctance to move, swelling and pain as bleeding progressesbleeding progresses

Affected extremity held in flexed position Affected extremity held in flexed position

Usually no visible cutaneous bruisingUsually no visible cutaneous bruising

Treat with replacement factor, rest, ice , compression Treat with replacement factor, rest, ice , compression and immobilizationand immobilization

Advanced joint and muscle bleedAdvanced joint and muscle bleed

Complications Muscle BleedsComplications Muscle Bleeds

Compartment syndromeCompartment syndrome

Neurologic impairmentNeurologic impairment

Other Common BleedsOther Common BleedsBruisesBruises– Superficial bleeding into soft tissuesSuperficial bleeding into soft tissues– Usually raised bruises or hematomasUsually raised bruises or hematomas

Scrapes, minor cuts and/or LacerationsScrapes, minor cuts and/or LacerationsMucous-membrane bleedingMucous-membrane bleeding– Bleeding from tissues of mouth or noseBleeding from tissues of mouth or nose

Can cause nausea and vomiting if blood swallowedCan cause nausea and vomiting if blood swallowedBlood loss can be insidiousBlood loss can be insidiousBleeding with loss of primary teeth usually not a Bleeding with loss of primary teeth usually not a problemproblem

Hematuria Hematuria

School Issues School Issues

SportsSports

Category I: Can participate safelyCategory I: Can participate safelyCategory II: Benefits out weigh riskCategory II: Benefits out weigh riskCategory III: Risk outweigh the benefitsCategory III: Risk outweigh the benefits

Responsibilities:Student Responsibilities:Student

Learns to CommunicateLearns to CommunicateReports bleeding episodes Reports bleeding episodes Completes assignments on timeCompletes assignments on timeMakes the same effort as students without Makes the same effort as students without Hemophilia Hemophilia

Responsibility: ParentResponsibility: Parent

Communicate child's condition, activity Communicate child's condition, activity and treatmentand treatmentObtains makeup workObtains makeup workAssist the child in maintaining a positive Assist the child in maintaining a positive healthy attitude toward schoolhealthy attitude toward schoolProvide the school nurse with factor Provide the school nurse with factor treatment plantreatment plan

Responsibility: SchoolResponsibility: SchoolMonitor school performance and remain Monitor school performance and remain alert for changes in motivation, alert for changes in motivation, personality, or performance and inform personality, or performance and inform parents of these changesparents of these changesCommunicate to parents/child observable Communicate to parents/child observable signs of a bleedsigns of a bleedStress the importance of completing Stress the importance of completing assignments on timeassignments on timePromote ability and success not inabilityPromote ability and success not inabilityRespect privacy and confidentialityRespect privacy and confidentiality

Individualized Healthcare Plan (IHP)Individualized Healthcare Plan (IHP)

School IssuesSchool Issues

Acute management of bleedAcute management of bleed– Factor replacementFactor replacement– Joint supportJoint support– RICERICE– Pain medicationsPain medications– AbsencesAbsences– ActivityActivity

IHP: IHP: Nursing DiagnosisNursing Diagnosis

Potential for injury related to factor Potential for injury related to factor deficiencydeficiencyPotential for alteration in comfortPotential for alteration in comfortPotential for alteration in mobilityPotential for alteration in mobilityKnowledge deficit related to Knowledge deficit related to disease/managementdisease/managementPotential for noncompliancePotential for noncompliancePotential for alteration in student rolePotential for alteration in student role

IHP: Goals IHP: Goals Prevent injuries/safety measuresPrevent injuries/safety measures– Not always able to prevent bleedsNot always able to prevent bleedsDevelop emergency planDevelop emergency planComply with medical treatmentComply with medical treatment– Prevention TreatmentPrevention TreatmentGood decision makingGood decision makingGood attendanceGood attendanceMaximum participationMaximum participation

IHP: Nursing InterventionsIHP: Nursing InterventionsThe Nurse will The Nurse will – Keep accurate recordsKeep accurate records– Discuss bleeding prevention with staffDiscuss bleeding prevention with staff– Inservices as needed with HTC Inservices as needed with HTC – Provide/coordinate health education Provide/coordinate health education

opportunitiesopportunities– Choose and implement motivators to Choose and implement motivators to

compliancecomplianceRemove barriersRemove barriers

– Monitor attendance patterns/academic Monitor attendance patterns/academic performanceperformance

– Environmental assessment to prevent injuryEnvironmental assessment to prevent injury– Safety measuresSafety measures– Emergency plans for bleeding episodes at Emergency plans for bleeding episodes at

schoolschool– Adequate knowledge of medications and side Adequate knowledge of medications and side

effectseffectsAppropriate authorizationsAppropriate authorizations

– Obtain needed equipment/suppliesObtain needed equipment/supplies

IHP Plan: OutcomesIHP Plan: Outcomes

The student will:The student will:– Describe a bleed and treatmentDescribe a bleed and treatment– Identify healthy lifestyle decisionsIdentify healthy lifestyle decisions– Take appropriate safety Take appropriate safety

measures/protective equipmentmeasures/protective equipment– Maintain good attendanceMaintain good attendance– Be a normal kid!Be a normal kid!

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