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HEMOPHILIA

HEMOPHILIAPresented by : Muhammad Nabeel (11-MBBS-062)Sehrish Riaz (11-MBBS-037)Motia Noor (11-MBBS-046)

Patients ProfileName : Muhammad HasnainAge : 4 yearsResidence : Qasim market, RawalpindiPresented to : OPD on 22nd February 2016

Presenting ComplaintBleeding from gums 01 day.

History Of Presenting ComplaintsKnown case of hemophiliaHistory of spontaneous bleeding from gums in the morning.Fresh blood.Quantity : 4 to 5 table spoons.Relieving factor : applying cold water to the site.Bleeding reoccurred again after 2 to 3 hours.Same episode of bleeding at night.No history of bleeding from any other site in form of hemoptysis, hematuria, hematemesis, bruises.

Past History Of Bleeding40th day of lifeHistory of prolong bleeding from circumcision site for 2-3 hours.Transfused with blood and fresh frozen plasma

At the age of 11 monthTrauma to the oral mucosaDiagnosed as a case of hemophilia on the basis of investigationTransnfused with fresh frozen plasma

At the age of 1 and a half years of lifeTrauma to the tongueTransfused with fresh frozen plasma

At the age of 2 and a half years of lifeSpontaneous bleedingTransfused with fresh frozen plasma

No history of swelling at the site of injection after vaccination.Multiple episodes of right knee joint swelling and bruises due to fall and trauma.

No history of Weight loss, weakness, recurrent chest infectionfits, headache, muscular weaknessShortness of breath or palpitationsJaundice

Family HistoryNo previous positive family history of hemophilia.

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4 years 2 and a half years

Birth HistoryBirth at term, delivered at home by a midwife.Ante-natal : unremarkableNatal : unremarkablePost-natal : unremarkable

Vaccination History

Fully vaccinated according to the EPI schedule.

Developmental HistoryNormal except for bruises he got while starting walking

Nutritional History

He has normal appetite

Socioeconomic History

Low socioeconomic family

ExaminationGeneral Physical ExaminationPulse : 64 per minuteRespiratory rate : 22 breaths per minuteBlood pressure : 110/70 mmHgTemperature : 36.8 C

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WeightHeight

Head circumference : 47.5 cm

PallorOral hygiene poor

No bleed from any other site seen like petichae, nose bleed except for one bruise

Abdominal examinationSymmetrical, no hepatosplenomegaly

Respiratory examinationCardiovascular examination UnremarkableCNS examination

Investigation

Follow-up And AdviceFactor VIII assayChromosomal analysis of motherX-ray knee jointAvoid intramuscular injectionsAvoid contact sports like running, football, cricket, riding bicycle.Avoid drugs which promote bleeding Mother counsellingInform school authorities Registration with hemophilia centerReport in case of heavy bleeding

What is Hemophilia?

TypesHemophilia AHemophilia B

Hemophilia ACoagulation disorder Factor VIII deficiency

Inheritance X-Linked Recessive

Incidence

FACTOR VIII1unit/ml = 100% Normal range is 50-150%.

Clinical Manifestations

Severe factor VIII deficiency< 1% activityFrequent spontaneous bleeding from skin , mucous membrane , joints, muscles and visceraModerate Factor VIII deficiency1-5% activity

Mild Factor VIII deficiency6-30% activityTrauma surgery

COMMON PRESENTATIONS

UMBLICAL CORD BLEED

CIRCUMCISION BLEED

HEMARTHROSIS

VACCINATION HEMATOMA

DiagnosisPositive family historyAPTT is prolongedClotting time prolongedBleeding and prothrombin time is normalFactor VIII assay

Complications

Intracranial hemorrhage

Intramuscular hematomas

Hemarthrosis

Infections Related To Blood Transfusion

General Supportive CarePrevention of traumaAvoid aspirinImmunization

SPECIFIC MANAGEMENTNormalize factor VIII activity by:Factor VIII concentrateWhole fresh bloodFresh Frozen PlasmaCryoprecipitate

For Life threatening bleed :80-100% activity requiredFor Mild to moderate bleed : 40% activity required

MILD BLEED

Mild Bleed: Desmopressin acetateOral Bleed: Aminocaproic and tranexamic acid

PREVENTIONGenetic counselingAntenatal diagnosis

PROGNOSISAttention is given to childs :PhysicalEmotionalSocialEducational status

Hemophilia B

Factor IX deficiencyX-linked recessiveAPTT prolongedPT and thrombin time normalDiagnosis: Factor IX assayTreatment: Fresh frozen plasma/factor IX administration

Differential diagnosisHemophilia AHemophilia BIdiopathic thrombocytopenic purpuraPlatelet function disorderVon willebrand disease

APPROACH TO BLEEDING CHILD

APPROACH TO BLEEDING CHILDHISTORYCLINICAL EXAMINATIONLAB INVESTIGATIONS

PLATELET COUNT LOW CONGENITAL ( Fanconi syndrome)ACQUIRED ( idiopathic , drug induced )PLATELET COUNT IF NORMALPlatelet function disorders ( morphology , aggregometery , electron microscope )

QUESTIONS AND ANSWERS

MCQS

A 5 year old boy presents to out patient department with complaint of joint swelling after trauma for last 02 days. His lab shows : Platelet count = 170, 000 (150,000 - 400 ,000)Prothrombin Time = 14 :12 secondsActivated Partial Thromboplastin Time = 50:25 seconds

What is most probable diagnosis ?Disseminated Intravascular CoagulationHemophiliaIdiopathic Thrombocytopenic purpuraPlatelet function disordersVon Willebrand Disease

Answer is Hemophilia

A 7 year old boy presents with oral cavity bleed after tooth extraction. On examination , there was no other bleeding except few bruises seen over body. Bleeding time is normal ,Clotting time is raised, Activated Partial Thromboplastin Time is also raised. Which diagnostic tests should be done ?

Bone marrow biopsyFactor IX assayFactor VIII assayPlatelet countsVon Willebrand assay

Answer is Factor VIII assay

A 10 year old boy I vaccinated according to EPI in infancy, known case of hemophilia. He was diagnosed at the age of 3 years when he had profuse bleeding from the gums . Since then he is being transfused regularly with fresh frozen plasma. Now he developed jaundice with hepatomegaly. What is therapy related complication in this scenario ?

Hepatitis BHuman immunodeficiency virusHepatocellular carcinomaHepatitis CWilsons disease

Answer is Hepatitis C

A 3 year boy old presents with bleeding from dental cavity. During the hospital admission he was diagnosed as a case of Hemophilia. What is the first line of management ?

Fresh frozen plasmaFactor VIII administrationPacked red blood cellsPlatelets transfusionWhole blood transfusion

Answer is Factor VIII administration

SEQS

A 2 year old child presents to out patient department with complaints of gum bleeds. On examination, the child is active ,vitally stable and oral cavity shows minor bleed from gums. Rest of systemic examination is non significantLab investigation shows Hemoglobin = 11.5 g/dl TLC = 6000/ cmm Platelets = 200 000Bleeding time = 1 to 2 seconds Prothrombin Time = normalActivated Partial Thromboplastin Time = prolongedClotting Time = prolonged

What is most probable diagnosis ?

Hemophilia

What further investigations you would like to do to confirm diagnosis ?

Factor VIII & Factor IX assays

What supportive measures should be taken to prevent bleed ?

Supportive measures are ;Avoid traumaAnticipatory guidance like seat belts , car seats , bike helmets etcAvoid violent contact sportsAvoid aspirin and NSAIDSAvoid intramuscular injections