Hemophilia

History
First coined by johann lucas in 1820 .
Originally termed Haemorraphilia i.e. love for haemorrhages but over time
contracted to Hemophiliao.
Hemophilia is often called the disease of kings because it was carried by many
members of Europe's royal family.
Queen Victoria of England was a carrier of haemophilia.

Clotting factors are proteins made by cells that line the blood vessel walls , these
include platelets, clotting factors and fibrinogen.
When a blood vessel is injured , the blood cells and substances stick to the cut area
and form a clot that stop the bleeding and covers the blood vessel injury while it
heals.

1:Definition:
Hemophilia is an inherited bleeding, or coagulation disorder.
Children with hemophilia lack the ability to stop bleeding because of the low levels
or complete absence of specific proteins in their blood that are necessary for
clotting.
As a result, they may bleed for a long time after an injury.
They may also experience internal bleeding, especially in the joints.

Causes and Inheritance of hemophilia

Hemophilia is a sex chromosome disorder that affects the X chromosome (X
linked recessive disorder).
It is an inherited condition that is present at birth and usually occurs only in boys.
Inheritance Of Hemophilia

Hemophilic father =100% girls carries and 100% boys free

Mother carrier = 50% girls carries 50% of boys affected

Forms of hemophilia :
Hemophilia A :(Classic hemophilia):
One in 5,000 male births, caused by VIII deficiency (Antihaemophilic globulin), it
is the most common type of hemophilia.
Hemophilia B: one in 25,000 male births, IX deficiency (Plasma thromboplastin
component), second most common type of hemophilia.
Hemophilia C :This person has low levels of or is missing completely factor 11
(Also called FXI or factor XI deficiency) Hemophilia C is 10 times more rare than
type A.

Manifestations
- The most common symptom of the disorder is excessive, uncontrollable bleeding.
- Hemophilia do not bleed faster than normal children they bleed for a longer time.
- Bleeding can occur anywhere in the child's body such as the nose or mouth.

Manifestations

-Frequent bruising.
-Frequent nose bleeds or bleeding gums.
-Bleeding into a joint and muscles ( Hemarthrosis and muscle hematoma).
-Musculoskeletal dysfunction and muscular atrophy.
-The decrease of range of joint movement and malalignment produce abnormal
joint forces.
-Others=Blood found in the urine or stool.
Diagnosis of hemophilia
Mild hemophilia can be diagnosed at any age, even in adulthood, usually after
excessive bleeding episodes due to trauma or surgery.
1-Complete child and family history.
2- Medical history.
3- Numerous blood tests including:
Clotting factor levels.
Complete blood count (CBC).
Assessment of bleeding times.
DNA testing.

Management
Treatments for hemophilia:
There is no cure for hemophilia. treatment is done to stop or prevent bleeding.
Treatment depends on:
1- Severity of hemophilia.
2- Child age and general medical health.
3- Number of joints affected and muscle.

Treatments for hemophilia aims to prevent and reduce bleeding episodes:

1- Avoid sharp toys
2- Avoid contact sports
3- Use helmets and joint protections when start learning walking
4-Preventive measures as factor replacement before surgery or dental care.
The treatment of hemophilia entails the correction of the defect that may be
achieved with the use of fresh frozen plasma.

Treatment of bleeding episodes Factor replacement therapy

Treatment of bleeding episodes Factor replacement therapy

A-On demand therapy: This is when the child receives clotting factor to stop a
bleeding episode or before a surgical or dental procedures
B-Preventive therapy: Preventive or prophylaxis therapy is are two types of
prophylaxis: primary and secondary.Management I- Preventive therapy:

I:Preventive therapy:

A- Primary prophylaxis:
The child may be started on prophylaxis therapy as early as 1 to 2 years of age. It
requires the infusion of factor on a regular basis to maintain factor levels in the
moderate range.

B-Secondary prophylaxis:
This therapy is often used, after one or more joint bleeds, to manage joints with
recurrent bleeding.

II- Physiotherapy assessment:

-ROM assessment through a pain-free range.

-Muscle strength
-Round and long measurements
-ADL , Neurological assessment, Gait and postural assessment
II- Physiotherapy TTT
-Each patient is individually assessed and then course of exercise is provided
appropriately.
-So also any advice and treatment, all tailored to the child. When there is a bleed
the first and foremost thing is to treat with factor replacement therapy.
-This will stop the bleeding, but it does not remove the accumulated blood, which
cause damage to the muscle or joint.

II- Physiotherapy TTT acute

Acute phase: P-R-I-C-E
Rest: The appropriate part should be rested for the first 24 hours. For lower limb
problems, crutches may be required for support. A sling may be required for upper
limb problems.
Compression: with a bandage
Elevation: The lower limb should be elevated when sitting, to help minimize
swelling. Standing for long periods should be avoided. A sling for the upper limb
will help to reduce swelling in the hand
Ice

II- Physiotherapy TTT sub acute:

1- Splints may continue at night and during community activities.
2-Progressive movement and exercises: joint movement can be progressed within a
pain free range from isometric to isotonic exercises.
3- Strengthening exercises should begin once the joint is pain free through its full
range and should address all muscle groups surrounding a joint.
4- Elastic bands or tubing and cuff weights can be used before transition to weight
equipment.
5- Progressive weight bearing in pain free range.
6- Proprioceptive exercises such as PNF.
7- Aerobic exercises such as stationary bicycling and walking.

II- Physiotherapy TTT chronic: hemophilic synovitis

- Recurrent hemorrhage into a joint often leads to chronic synovitis with extensive
joint surface erosion leading to arthropathy.
-Target joints: knees, elbows, and ankles.
-Recurrent bleeding and swelling lead to progressive muscular atrophy, weakness
and limitation of ROM.Management
- Isometric exercises

- Isotonic exercises

-Proprioceptive and balance training: in form of standing on one leg, balance ex's
on board.

-Flexibility exercises.

- Pulsed Ultrasound is used to reduce pain and accelerate tissue healing.

- Transcutaneous nerve stimulation is used in acute and chronic pain and therefore
is useful in chronic synovitis

- Pulsed short diathermy to:

1) Increase WBC.
2) Reduce inflammation.
3) Encourage reabsorption of heamarthrosisManagement

Hydrotherapy: is useful in treatment of chronic synovitis the exercise in water

leads to:
1) Pain relief
2) Reduce muscle spasm
3) Maintain ROM.
4) Improve muscle strength.
5) Increase exercise tolerance.
6) Improve circulation
7) Improve balance and coordination.