Hemophilia

L.GITHINJI

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

Clinical Characteristics
Internal bleeding into joints, muscles and major organs Depending on the factor level bleeding can be spontaneous or caused by trauma Bleeds longer not faster Soft tissue bleeds Hematomas

Services
Medical Nursing Psychosocial Physical therapy Dental services Diagnostic laboratory services Genetic counseling and testing

Types of Bleeding Disorders

Hemophilia A (factor VIII deficiency)
Hemophilia B (factor IX deficiency)

Incidence
Hemophilia A: 1:5000 male births Hemophilia B: 1:30,000 male births

School Issues
Frequent absences
Hard to catch up Decreased peer support

Activity restrictions
No contact sports Immobilization during bleeding episodes

Pain
Chronic/acute

How Blood Clots

Blood vessels Platelets Plasma coagulation system Proteolytic or Fibrinolytic system

Hemostasis
Vasoconstriction Platelet plug formation Clotting cascade activated to form fibrin

clot

Coagulation Cascade
X TF VIIa Xa Va

II
VIII/vWF IIa VIIIa V Va Platelet

TF-Bearing Cell TF IXa IXa VIIa

IX X

II
Xa Va Va

VIIIa

IIa IIa

VIIa
IX

Activated Platelet IXa VIIIa Xa X

II

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

Bleeding in Hemophilia
Vasoconstriction Platelet plug formation The clotting cascade is not activated a

fibrin clot does not form

Bleeding will continue

Inheritance
Hemophilia A and B are X-linked recessive disorders Hemophilia is typically expressed in males and carried by females Severity level is consistent between family members 30 % of cases of hemophilia are new mutations Affects all races and ethnic groups equally Moderate & mild deficiencies under-diagnosed

Genetics
Affected males
All daughters are carriers No sons are affected

Female carrier
50% risk for carrier daughter 50% risk for affected son

Clinical Aspect

Type and Severity

Normal factor VIII or IX level 50-150% Mild hemophilia
factor VIII or IX level 5-50%

Moderate hemophilia
factor VIII or IX level 1-5%

Severe hemophilia
factor VIII or IX level <1%

First Bleed/Diagnosis
Mild
Often has bleeds at an earlier age but not identified till later in life, 3 to 14 years or older

Moderate
usually before 2 years

Severe
within first year

Bleeding Pattern Mild

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

Carriers
Carriers may have low factor levels Carriers may experience bleeding symptoms seen in mild or moderate deficient states Treat carriers as potential bleeders

Bleeding Pattern Moderate

Bleeds once a month Minor trauma causes joint and muscle bleed may have target joints Post surgical: wound hematoma or oozing

Bleeding Pattern Severe

Bleeds once a week Spontaneous joint and muscle bleed Target joints

Types of Bleeds Treatment and Management

Types of Bleeds
Joint bleeding - hemarthrosis Muscle hemorrhage Soft tissue Life threatening-bleeding Other common bleeding

Joint or Muscle Bleeding

Symptoms Tingling or bubbling sensation Stiffness Warmth Pain Unusual limb position

Treatment of Hemophilia
Replacement of missing clotting protein Intravenous infusion On demand Prophylaxis Primary/Secondary

Factor VIII Concentrate

Intravenous infusion
IV push

Dose varies depending on type of bleeding

Ranges from 20-50+ units/kg. body weight

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

DDAVP (Desmopressin acetate)

Synthetic vasopressin Method of action release of stores from endothelial cells raising factor VIII and vWD serum levels Administration Intravenous Subcutaneously Nasally (Stimate)

Factor IX Concentrate
Intravenous infusion
IV push

Dose varies depending on type of bleeding

Ranges from 20-100+ units/kg. body weight

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

Minor Bleeding Episodes

Early joint bleeds Soft tissue & muscle bleeds Nose & gum bleeding not responding to local measures Treatment of minor bleeding episodes 40 - 50% correction FVIII : 20 - 25 units / kg FIX : 40 - 50 units / kg

Major Bleeding Episodes

Head & neck injuries Advanced soft tissue & muscle bleeds Abdominal bleeding Advanced joint bleeding Treatment of major bleeding episodes 100 % correction FVIII : 50 units / kg FIX : 100 units / kg

Primary Prophylaxis
Scheduled infusion therapy at an early age before bleeding has regularly occurred to convert patient from severe deficient state to moderate deficient Goal: suppression of spontaneous bleeding episodes Frequency: 2 to 3 times weekly to keep trough factor VIII or IX levels at 2-3% Use of IVAD necessary in some patients

Secondary Prophylaxis
Scheduled infusion therapy at any age after bleeding has regularly occurred or after injury to convert patient from severe deficient state to moderate deficient Prior to sports activity Goal: suppression of spontaneous bleeding episodes or rebleeding Frequency: 2 to 3 times weekly to keep trough factor VIII or IX levels at 2-3% Use of IVAD necessary in some patients

Morbidity of Chronic Disease

School absenteeism increased in children with severe Hemophilia compared to normal population Difficulty attending to task if in pain Ability to achieve potential and find a productive appropriate place in work force Number of bleeding episodes impacts ability to achieve potential Prophylaxis decrease morbidity of chronic disease

Adjunctive Therapy
RICE Rest /Replacement Ice/Immobilization Compression Elevation Antifibrinolytic Agents Amicar (aminocaproic acid) Used for mucocutaneous bleeding Dosing: 50 mg./kg. q. 6 hours po

Bleeding Episodes

Life-Threatening Bleeding
Head / Intracranial
Nausea, vomiting, headache, drowsiness, confusion, visual changes, loss of consciousness

Neck and Throat

Pain, swelling, difficulty breathing/swallowing

Abdominal / GI
Pain, tenderness, swelling, blood in the stools

Iliopsoas Muscle
Back pain, abdominal pain, thigh tingling/numbness, decreased hip range of motion

Joint Bleeds
Most common bleeding manifestation Most common joint Knees, Ankles, Elbows Collection of blood in joint space may cause joint to feel hot Initial symptoms of tingling or bubbling sensation Early sign: reluctance to move, swelling and joint pain as bleeding progresses Affected joint held in flexed position Usually no visible cutaneous bruising Treat with replacement factor, rest, ice,compression and immobilization

Advanced Joint Bleed

Complications Joint Bleeds

Flexion contractures Joint arthritis / arthropathy Chronic pain Muscle atrophy

X-Ray of severe joint damage from recurrent hemarthrosis

Muscle Bleeding
Second common bleeding manifestation

Bleeding leg, thigh, calf, forearm, and groin create pressure on nerves
Early sign: reluctance to move, swelling and pain as bleeding progresses Affected extremity held in flexed position Usually no visible cutaneous bruising

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

Advanced joint and muscle bleed

Complications Muscle Bleeds

Compartment syndrome Neurologic impairment

Other Common Bleeds

Bruises Superficial bleeding into soft tissues Usually raised bruises or hematomas Scrapes, minor cuts and/or Lacerations Mucous-membrane bleeding Bleeding from tissues of mouth or nose Can cause nausea and vomiting if blood swallowed Blood loss can be insidious Bleeding with loss of primary teeth usually not a problem Hematuria