Hemophilia PDF

Hemophilia Dr. Wagdy William Lecture at pediatric physical therapy department Normal hemostasis  Normally, blood cells and substance form clots and stop body from bleeding. Clotting factors are proteins made by cells that line the blood vessel wall.  These include platele...

Hemophilia Dr. Wagdy William Lecture at pediatric physical therapy department Normal hemostasis  Normally, blood cells and substance form clots and stop body from bleeding. Clotting factors are proteins made by cells that line the blood vessel wall.  These include platelets, vitamin k and fibrinogen.  Platelets are type of blood cell made in the bone marrow that helps blood to form a blood clot.  Normal hemostasis Normal hemostasis vascular injury vasoconstriction platelet plug fibrin clot Blood clotting factors  Factor I - fibrinogen  Factor II - prothrombin  Factor III - tissue thromboplastin (tissue factor)  Factor IV - ionized calcium ( Ca++ )  Factor V - labile factor or proaccelerin  Factor VI - unassigned  Factor VII - stable factor or proconvertin  Factor VIII - antihemophilic factor  Factor IX - plasma thromboplastin component, Christmas factor  Factor X - Stuart-Prower factor  Factor XI - plasma thromboplastin antecedent  Factor XII - Hageman factor  Factor XIII - fibrin-stabilizing factor  Definitions of hemophilia  Hemophilia is an X- linked congenital bleeding disorders caused by a deficiency of coagulation factor VIII (FVIII) (in hemophilia A) or factor IX (FIX) (in hemophilia B).  People born with hemophilia have lower clotting factor level of blood plasma or impaired activity of the coagulation factors needed for normal clotting. Definitions of hemophilia  Hemorrhages may occur anywhere in the body but most often are in the joint cavities. Muscles are the second most common site of bleeding.  Patients with hemophilia may also be susceptible to mucous membrane (mouth, gums, and nose), and central nervous system hemorrhages.  Fortunately, central nervous system hemorrhages are uncommon, developing in approximately 3% of the hemophilic population, but they are the major cause of death  Types of hemophilia  Hemophilia A: is the most common type of hemophilia (resents about 85% of the total hemophilia population), and it’s caused by a deficiency of factor VIII.  Hemophilia B: is caused by deficiency of factor Ix.  Hemophilia C: is a mild form of the disease (rare type) that’s caused by a deficiency of factor XI.  Hemophilia and Genetic  Hemophilia is inherited genetic condition  It is caused by defect in the gene that determine how the body makes factors VIII, IX or XI.  These gene located on X chromosome making hemophilia an X-linked receive disease. The hemophilia is passed genetically  Clinical classification of hemophilia Hemophilia is traditionally classified as mild, moderate or severe depending on the degree of clotting factor deficit compared with that found in the general population and in what stimulations bleeding most often occur  Mild hemophilia Predisposition Haemoarthrosis Factor level to bleeding With sever Rarely >5-40%of injury normal  Moderate hemophilia Predisposition Haemoarthrosis Factor level to bleeding With slight Sometimes 1-5%of injury normal  Sever hemophilia Predisposition Haemoarthrosis Factor level to bleeding Spontaneous Very < 1% of with little or no frequently normal trauma Clinical manifestation The most common manifestation of hemophilia is hemarthrosis, or bleeding in the joint space. The ankles, knees, and elbows are most commonly involved, although the shoulders, wrists, and hips may also be affected. 1-The main initial signs of hemophilia  Persistent bleeding after circumcision, other surgery or blood tests.  Unexplainable recurrent bruises.  Hesitation to use a limb  Bleeding from cuts and scratches talking a long time to stop  Swelling of a joint  A lot of bruising after injections ( e.g. immunizations)  Frequent nosebleeds. 2-Joint bleeds Joint bleeds (called hemarthroses), which can be spontaneous or caused by trauma, are the main causes of chronic pain and disability in severe hemophilia. 2-Joint bleeds  Symptoms of joint bleeds are not always apparent right away.  Chronic bleeding into the joint breaks down the joint lining (synovium) and causes joint damage. This results in the painful arthritic condition known as hemophilic arthropathy  Untreated joint bleeds can be debilitating as chronic pain, swelling, and permanent joint damage lead to limited mobility and decreased quality of life. 3- Soft tissue bleeding  Bleeding in muscular tissue is also called sot tissue bleeding ( hematomas). The most commonly affected muscles are the iliopsoas, quadriceps, gastrocnemius-soleus, and muscles of the forearm.  Bleeding into muscles can causes severe problems, including compartment syndrome.  Bleeding into the joints, soft tissues and muscles is seen more frequently after the age of two. 4- Psychological disturbance  Children with hemophilia may feel different and somewhat isolated because they are unable to participate in the same activities as their classmates.  Daily fluctuations in disease symptoms may also affect the child's mood and ability to cope 5- Growth abnormalities  Recurrent bleeds into the same joint of a growing child can lead to growth abnormalities.  The epiphyses (bone growth plates) of children are open.  Bleeding into a joint causes hyperemia, which stimulates growth.  This can cause postural asymmetries to develop, such as leg length differences, ambulatory deformities, and bony enlargement of the joints 6- Lower bone mineral density Hemophilia could lead to a lower peak bone mass and lower bone mineral density (BMD) score for the simple reason that avoidance of weight bearing physical activity as a child or adolescent can be expected to reduce the peak bone mass achieved. 7-Proprioception Proprioception is impaired in persons with hemophilia. Static proprioceptive performance, as measured by single limb stance on hard or soft ground, with eyes opened or closed, was significantly decreased in patients with severe hemophilia as compared to healthy subjects. Young children may not be able to describe the previously mentioned symptoms The following signs and symptoms are noticed in the young children with hemophilia  Irritability  Crying  Favoring a limb  Refusing to walk  Limited movement (mobility ) of the joint  Refusing to straighten , weight –bear or use the limb Assessment of hemophilia  Examination of the child with hemophilia should include gathering historical information about the location and frequency of bleeding episodes and the patient’s normal activities.  This information is essential in identifying the causative factors of hemorrhage and in designing a program to reduce the frequency and severity of hemorrhages Assessment include the following : 1- Muscle tests 2- Leg length measurement 3-Girth measurements for the joint and muscle 4- Gait Assessment 5-Pain assessment 6-Palpation 7- Balance and coordination assessment 8- Gross motor development  Management of hemophilia I- Medical management II- Physical therapy treatment I- Medical management  The primary treatment for hemophilia is replacement of the deficient clotting factor (intravenous factor replacement) The goal of factor replacement is either to: 1.Stop bleeding episodes that have already started such as after an injury (on demand treatment). 2.To decrease or prevent bleeding episodes. Clotting factors may be replaced on a regularly scheduled basis (prophylaxis) to prevent bleeding (Prophylactic treatment). II- Physical therapy treatment Goals of physical therapy 1-maintaining strength and ROM in all joints 2-preventing or diminishing disability A-Physical therapy of acute haemarthrosis (PRICE)  Protection  Rest for lower limb bleeding episodes should include bed rest (1 day).  Ice packs can be applied for 20 minutes, every 4-6 hours, until pain relief.  Support to the joint with splints, sling, or compression bandages can also help  Elevation when sitting (3-4 days), avoidance of weight bearing, and the use of crutches or a wheelchair when ambulating And also, the treatment in acute stage includes the following: TENS movement in pain free range Hydrotherapy N.B: Delayed and / or inadequate treatment of acute haemarthrosis can trigger a series of pathological changes within the joint, leading to painful and disabling arthropathy. B-Physical therapy of subacute phase (after 48 hours):  Modalities such as ice, transcutaneous electrical nerve stimulation, and splints  Progressive movement and exercises  Strengthening exercises should begin once the joint is pain free through its full range and should address all muscles group around joint B-Physical therapy of subacute phase (after 48 hours):  Progressive weight bearing in free range  Proprioceptive exercises  Hydrotherapy ( gait training with minimal resistance on joint) C-Basic elements of a physiotherapy exercises program in hemophilia 1- Strength 2- Flexibility 3- Balance and proprioceptive training 1- Strength Strengthening can be achieved through isometric, isotonic or isokinetic exercise.  The exercise program must be individualized to progress from isometric to active assistive, active and finally resistive mode as the pain and swelling diminished and ROM and strength increased. 1- Strength  Progressive resistive exercise in the open chain provide both concentric and eccentric strengthening and are preferred initially to closed chain eccentric exercise to avoid any joint tissue damage from compressive forces. 1- Strength  High repetition, low load progressive resistance programs have been shown to be effective in increasing strength and decreasing bleeding frequency.  Any signs of bleeding such as increased swelling or pain or decreased ROM will necessitate reducing the intensity of the exercises program and possibly exercising only under cover of factor replacement until supporting muscles are stronger 2- Flexibility  There are a variety of stretching techniques practiced including static stretching, dynamic stretching and proprioceptive neuromuscular facilitation (PNF) techniques.  PNF contract relax techniques are the best for increasing ROM, along with static stretching. In static stretching, holding each stretch is recommended for 15 or 30s. The member of repetitions varies from three to four repetitions 2- Flexibility  Care must be taken when initiating stretching following a muscle bleed, within the limits of pain and closely monitoring the individual for signs of bleeding  If the patient has recurrent hemarthroses without achieving full ROM and strength between bleeding episodes, a contracture will develop. Exercise alone may not be able to overcome the muscle shortening and intra-capsular adhesions that may have formed 3- Balance and proprioceptive training  The basic rule is to start with simple exercise and progress to more complex ones.  The recommendation is to begin with stable surfaces such as lying on the hard floor, sitting on a rigid chair, kneeling and standing.  Then progressive exercise such as shifting weight from one leg to another, trunk rotations, arm /leg movements and blindfolding are added. In the later phase, movable surfaces are introduced. 3- Balance and proprioceptive training  Patients should be educated to exercise at home and those with significant balance impairment encouraged utilizing assistive devices such as walkers, crutches or canes.