HEMOPHILIA

Presented by : Muhammad Nabeel (11-MBBS-062)

Sehrish Riaz (11-MBBS-037)Motia Noor (11-MBBS-046)

Patient’s Profile

Name : Muhammad Hasnain Age : 4 years Residence : Qasim market, Rawalpindi Presented to : OPD on 22nd February 2016

Presenting Complaint

Bleeding from gums 01 day.

History Of Presenting Complaints

Known case of hemophilia History 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 Bleeding

• 40th day of life• History of prolong bleeding from circumcision site for 2-3 hours.• Transfused with blood and fresh frozen plasma

• At the age of 11 month• Trauma to the oral mucosa• Diagnosed as a case of hemophilia on the basis of investigation• Transnfused with fresh frozen plasma

• At the age of 1 and a half years of life• Trauma to the tongue• Transfused with fresh frozen plasma

• At the age of 2 and a half years of life• Spontaneous bleeding• Transfused 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 infection• fits, headache, muscular weakness• Shortness of breath or palpitations• Jaundice

Family History

No previous positive family history of hemophilia.

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4 years 2 and a half years

Birth History Birth at term, delivered at home by a midwife. Ante-natal : unremarkable Natal : unremarkable Post-natal : unremarkable

Vaccination History Fully vaccinated according to the EPI schedule.

Developmental History Normal except for bruises he got while starting walking

Nutritional History He has normal appetite

Socioeconomic History Low socioeconomic family

Examination General Physical Examination

• Pulse : 64 per minute• Respiratory rate : 22 breaths per minute• Blood pressure : 110/70 mmHg• Temperature : 36.8 ºC

`

Weight

Height

Head circumference : 47.5 cm

• Pallor• Oral hygiene poor

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

Abdominal examination• Symmetrical, no hepatosplenomegaly

Respiratory examination Cardiovascular examination Unremarkable CNS examination

Investigation

Follow-up And Advice

Factor VIII assay Chromosomal analysis of mother X-ray knee joint Avoid intramuscular injections Avoid contact sports like running, football, cricket, riding bicycle. Avoid drugs which promote bleeding Mother counselling Inform school authorities Registration with hemophilia center Report in case of heavy bleeding

What is Hemophilia?

Types

Hemophilia A Hemophilia B

Hemophilia A

Coagulation disorder Factor VIII deficiency

Inheritance X-Linked Recessive

Incidence

FACTOR VIII

1unit/ml = 100% Normal range is 50-150%.

Clinical ManifestationsSevere factor VIII deficiency

< 1% activity Frequent spontaneous bleeding

from skin , mucous membrane , joints, muscles and viscera

Moderate Factor VIII deficiency

1-5% activity

Mild Factor VIII deficiency

6-30% activity Trauma surgery

COMMON PRESENTATIONS

UMBLICAL CORD BLEED

CIRCUMCISION BLEED

HEMARTHROSIS

VACCINATION HEMATOMA

Diagnosis

Positive family history APTT is prolonged Clotting time prolonged Bleeding and prothrombin time is normal Factor VIII assay

Complications

Intracranial hemorrhage

Intramuscular hematomas

Hemarthrosis

Infections Related To Blood Transfusion

General Supportive Care

Prevention of trauma Avoid aspirin Immunization

SPECIFIC MANAGEMENT

Normalize factor VIII activity by: Factor VIII concentrate Whole fresh blood Fresh Frozen Plasma Cryoprecipitate

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

MILD BLEED

Mild Bleed: Desmopressin acetate Oral Bleed: Aminocaproic and tranexamic acid

PREVENTION

Genetic counseling Antenatal diagnosis

PROGNOSIS

Attention is given to child’s : Physical Emotional Social Educational status

Hemophilia B

Factor IX deficiency X-linked recessive APTT prolonged PT and thrombin time normal Diagnosis: Factor IX assay Treatment: Fresh frozen plasma/factor IX administration

Differential diagnosis

Hemophilia A Hemophilia B Idiopathic thrombocytopenic purpura Platelet function disorder Von willebrand disease

APPROACH TO BLEEDING CHILD

APPROACH TO BLEEDING CHILD

HISTORY CLINICAL EXAMINATION LAB 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 ?A. Disseminated Intravascular CoagulationB. HemophiliaC. Idiopathic Thrombocytopenic purpuraD. Platelet function disordersE. Von 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 ?

A. Bone marrow biopsyB. Factor IX assayC. Factor VIII assayD. Platelet countsE. Von 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 ?

A. Hepatitis BB. Human immunodeficiency virusC. Hepatocellular carcinomaD. Hepatitis CE. Wilsons 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 ?

A. Fresh frozen plasmaB. Factor VIII administrationC. Packed red blood cellsD. Platelets transfusionE. Whole 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 significant

Lab investigation shows Hemoglobin = 11.5 g/dl TLC = 6000/ cmm Platelets = 200 000 Bleeding time = 1 to 2 seconds Prothrombin Time = normal Activated Partial Thromboplastin Time = prolonged Clotting 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 trauma Anticipatory guidance like seat belts , car seats , bike helmets etc Avoid violent contact sports Avoid aspirin and NSAIDS Avoid intramuscular injections