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Hemophilia is a lifelong bleeding disorder that prevents blood from clotting properly. People with hemophilia do not have enough clotting factor, a protein in blood that controls bleeding. The severity of a person’s hemophilia depends on the amount of clotting factor that is missing. A person with hemophilia does not bleed faster than anyone else, but bleeding may last longer. The main danger is uncontrolled internal bleeding that starts spontaneously or results from injury. Bleeding into joints and muscles can cause stiffness, pain, severe joint damage, disability, and sometimes death.

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Big bruises Bleeding into muscles and joints, especially the knees, elbows, and ankles; Sudden bleeding inside the body for no clear reason; Prolonged bleeding after a cut, tooth removal, surgery, or an accident. Serious internal bleeding into vital organs, most commonly after a serious trauma

Hemophilia is usually inherited and about one in every 5,000 males is born with the disorder. It cannot be caught or transmitted except through inheritance but can sometimes occur when there is no family history of hemophilia. About one third of new cases are caused by a new mutation of the gene in the mother or the child. In these cases, there is no previous history of hemophilia in the family.
When the father has hemophilia but the mother does not, none of the sons will inherit hemophilia, but all of the daughters will carry the gene. Women who have the hemophilia gene are called carriers, and they can pass it on to their children. When the mother is a carrier and the father does not have hemophilia, for each child there is a 50% chance that a son will have hemophilia and a 50% chance that a daughter will carry the gene.

The severity describes how serious the problem is. The level of severity depends on the amount of clotting factor that is missing from a person’s blood. NORMAL = 50% - 150% of the normal activity of clotting factor VIII (8) or IX (9) in the blood.

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Bleed often into the muscles or joints (mainly knees, elbows and ankles). Might bleed one or two times per week. Might bleed for no clear reason.

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Might Bleed for a long time after surgery, a bad injury, or dental work. Might bleed about once a month. Rarely bleed for no clear reason.

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Might bleed for a long time after surgery or a very bad injury. Might never have a bleeding problem. Do not bleed often. Do not bleed unless injured.

Level

Percentage of normal factor activity' in blood 50%-150% 5%-30% 1%-5% less than 1%

Number of international units (IU) per millilitre (ml) of whole blood
0.50–1.5 IU 0.05–0.40 IU 0.01–0.05 IU less than 0.01 IU

Normal Range Mild Hemophilia Moderate Hemophilia Severe Hemophilia

Acquired Hemophilia In rare cases, a person can develop hemophilia later in life. The majority of cases involve middle-aged or elderly people, or young women who have recently given birth or are in the later stages of pregnancy. Acquired hemophilia is usually caused by the development of antibodies to factor VIII (the body’s immune system destroys its own naturally produced factor VIII). This condition often resolves with appropriate treatment, which typically involves a combination of steroid treatment and the drug Cyclophosphamide.

There are three types of hemophilia (1) Hemophilia A (2) Hemophilia B (3) Hemophilia C

Hemophilia A (Classical hemophilia) Hemophilia A is caused by deficiency of factor VIII

Hemophilia B (Christmas disease) Hemophilia B is caused by deficiency of factor IX

Hemophilia C - Hemophilia B is caused by deficiency of factor XI

People with severe Hemophilia usually bleed frequently into their muscles or joints. They may bleed one or two times per week. Bleeding is often spontaenous, which means the bleeding just happened with no obvious cause. People with moderate hemophilia bleed less frequently, usually after an injury, perhaps once a month. Cases of hemophilia vary, however, and a person with moderate hemophilia can bleed spontaneously. People with mild hemophilia usually bleed only as a result of surgery or major injury. They may never have a bleeding problem.

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Factor Factor Factor Factor Factor Factor Factor Factor Factor Factor Factor Factor Factor

The 13 blood coagulation factors are: I - fibrinogen II - prothrombin III - tissue thromboplastin (tissue factor) IV - ionized calcium ( Ca++ ) V - labile factor or proaccelerin VI - unassigned VII - stable factor or proconvertin VIII - antihemophilic factor IX - plasma thromboplastin component, Christmas factor X - Stuart-Prower factor XI - plasma thromboplastin antecedent XII - Hageman factor XIII - fibrin-stabilizing factor

von Willebrand factor (VWF), glycoprotein that plays an important role in stopping the escape of blood from vessels (hemostasis) following vascular injury

von Willebrand disease (VWD) is in fact a family of bleeding disorders caused by an abnormality of the von Willebrand factor (VWF). von Willebrand disease is the most common hereditary bleeding disorder.

Bleeding in:  Joints (Knee, elbow, hip, ankle, shoulder and wrist)  Synovitis (Chronic joint swelling)  Muscles  Head  Small cuts

Bleed in the joints occurs while playing or due to fall, direct blow and accident. It may also occur without apparent cause. Treatment will include Factor replacement and physiotherapy normally. Signs and Symptoms  Swelling, pain, and decreased functional use of a limb  For infants and toddlers, the earliest sign may be the failure to use the arm or leg normally. The skin over the joint may be warm and the child may be fractious (irritable). As the child grows older he will be able to describe his sensation as a bleed occurs.  Activity and mobility increase with age and many children with severe hemophilia may have experienced their first joint bleed in the weight bearing joints, i.e. ankles and knees by the age of three. Treatment  Factor Replacement  Rest  Physiotherapy. (Short-term splinting may be required)

How it Occurs All joints are lined with a tissue called synovium which produces a fluid that lubricates the joint. For persons with hemophilia, this lining often becomes thickened as a result of repeated bleeding episodes. Synovitis can be acute (lasting for only a couple of weeks) or chronic (a persistent joint swelling that does not go away). As more haemorrhages occur within a joint, the synovium becomes more thickened thus reducing the space within a joint, which in turn may lead to nipping of this membrane during movement, causing further bleeding. If this cycle of bleeding continues there will be eventual further damage (hemophilic arthropathy). Hemophilic synovitis is commonly seen between the ages of 6 and 16 years. Signs and Symptoms
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Persistent swelling (large but not tense) - minimal or tenderness Full range of joint movement, Lack of rapid improvement with factor replacement No heat are the signs and symptoms of synovitis. Aggressive prophylactic therapy Intense physiotherapy programmes, i.e. ice and exercises. Sometimes treatment by injection of rifampicin or radioactive substance in the joint is required Surgery may be indicated in some case to remove the synovium. Apply splint in the manner shown in fig. for 6-12 weeks This is to be worn throughout the day and can be removed while going to bed Perform Isometric Thigh muscle exercise(tightening the patella) 10 times every hour.

Treatment
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Management of chronic synovitis in the knee joint
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Muscles Bleeds Muscle bleeds occur either as a result of direct blow associated with pain and swelling or sports activity. They may also occur spontaneously. Signs and Symptom  Tingling sensation  Stiffness  Pain  Redness  Warmth  Swelling. Treatment  Factor replacement  Physiotherapy  Persons with hemophilia are prone to intra-articular and intra-muscular hemorrhages (hemoatomas). When muscle bleeds are not detected in time and treated properly the consequences can be disastrous leading to contractures. Common sites of muscle hemorrhages are the quadriceps, hamstrings, calf and forearm muscles. Bleeding into these muscles may affect a single muscle or a group, and those most frequently injured are the ones that extend over two joints, such as quadriceps, part of which passes over the hip and knee joints. These muscles are subject to stretching and forces with which the muscle fibres may not be able to cope and can therefore be easily damaged.

There are two types of hemoatomas that can be identified  1.Superficial hemoatomas and  2. Deep hemoatomas.

Bleeding inside the head is a common cause of death in persons with hemophilia. Bleeding may occur spontaneously or as a result of injuries, which may be slight, such as a minor fall or bump on the head. Symptoms of brain hemorrhage may not occur until several days after injury and include irritability, drowsiness, headache, confusion, nausea, vomiting and double vision. Medical attention should be sought immediately. Signs and Symptoms Some of the warning signs, such as a seizure or loss of consciousness, are unmistakable, and such obvious indicators are not apparent. Sometimes the signals are mild enough that one could confuse them with symptoms of flu or gastrointestinal upset: A persistent headache that does not respond to analgesics Confusion and difficulty in concentrating Drowsiness, Dizziness and stiff neck. Changes in behavious, lethargy, strange gait, slurred speech, visual problems (double vision) or sudden forceful vomiting. Management Rush to nearest hemophilia treatment center Infuse factor concentrates to 100% for factor VIII - 50 units/kg 60% for factor IX - 60 units/kg CT scan to confirm diagnosis If bleed is confirmed, continue factors for 72 hours. Factor VIII - 25 units/kg every 8 hrs Factor IX - 50 units/kg every 12 hrs Thereafter depending on the individual clinical condition, factor infusion is to continue for the next 7-10 days Treatment to control fits should be started and continued for atleast 6 months Any head bleed is life-threatening, so even at the suspicion of one, infuse immediately, notify treatment centres and get to an emergency room Rapidity of treatment helps a lot in preventing complications. For instance, a young patient who had a mild head trauma (intracranial bleed) was treated so quickly that he did not suffer from neurological problems.

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Small cuts are common among active young adults. Most will stop bleeding quickly and will not require the use of factor therapy. To treat cuts and scrapes If superficial  Clean the area with soap and water  Apply pressure for 5-10 minutes.  Apply ice wrapped in a cloth (Fibrin sealant/glue may be applied, but presently not available in India If deeper  Clean the wound  Apply firm pressure, bandage if necessary  Infuse factor concentrate 10 units/kg  Suture one hour later (it is important that suturing should be done only after infusing factor concentrates)  Antibiotics for 5 days

Management of Bleeds For Joint Bleeds

Remember - DO NOT DO THE FOLLOWING
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Apply anything Hot Massage with Oil Apply Iodex or other Balms Take Aspirin or Brufen or similar drugs Attempt to walk with the affected Limb Generally in the management of Hemophilia bleeding, R-I-C-E therapy is followed

‘R’ stands for Rest and Immobilisation. The joints need to be rested as much as possible.
‘I’ stands for Ice application. Apply a wet towel over the joint. Crush ice, wrap in another towel and put this over the joint covering the whole surface. Apply for 3 minutes and give a gap of 2 minutes and then reapply. Continue for an hour. Repeat every 6 hours till the pain is better. ‘C’ stands for Factor Concentrate. Where the family can afford, factors should be administered at the earliest sign of impending bleeding. Where the resources are limited, factor is administered only if pain and swelling are severe. ‘E’ stands for Exercise and Mobility. Remain immobile for the first 48 hours. Then use splint, if required for 1 week. Start isometric exercises. Gradually increase duration and strength of exercise every week.

Repeated bleeds sometimes lead to persistent swelling and possibly deformity. This is called chronic synovitis. Some patients with chronic synovitis may need treatment with Rifampicin or Radioactive substances injected into the joints. The treatment must be done in a specialized center. The management of Muscle bleed is similar to that of joint bleed.

Physiotherapy aims to bring relief from pain, restore muscle power and control, restore range of joint movement and prevent further injury to a target joint. 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. Thereafter, gentle movements should be encouraged within the limits of pain.

Ice

Ice packs can help to reduce pain and swelling. A frozen bag of peas wrapped in a damp towel and applied for 10 minutes may relieve pain. Ice should not be used if there is any loss of sensation or if the circulation of blood is poor. Ice should not also be applied directly to the skin as it can result in ice burn

Compression Support to the area with Tubigrip or bandage or splinting can relieve pain and reduce swelling. This should be applied in the morning before getting up. It is important to ensure that Tubigrip is not too tight and does not restrict circulation. Tubigrip should be removed at night. 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.