Haemophilia

HAEMOPHILIA

Introduction

Haemophilia is a bleeding disorder in which the blood does not clot normally. The person with haemophilia may not bleed severally than a person without it, but can bleed for a much longer time. In severe haemophiliacs even a minor injury can result in prolonged blood loss lasting days or weeks, or even never healing completely. In areas such as the brain or inside joints, this can be fatal or permanently debilitating.

People with haemophilia have either a lower level of clotting factor (Factor VIII or Factor IX) in their blood or an impaired activity of the coagulation factors needed for a normal clotting process.  Clotting factor is primarily synthesised by the Liver, but other organs such as spleen, kidney and placenta may also contribute to maintain its level in the blood.  Haemophilia is genetic disorder linked to the X chromosome, where in blood clotting factor producing gene is defective.  The females with this defective gene shall be carriers and mostly the symptoms are noticed in the male members.

Reference

http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia

Causes

Haemophilia usually is inherited disorder, passed from parents to children through genes. People born with haemophilia have little or no clotting factor. Clotting factor is a protein needed for the normal blood to control the bleeding. These factors work with platelets and help the blood to clot.  When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels and stop bleeding. There are two important clotting factors namely Factor VIII and Factor IX. Haemophilia A is due to missing or low levels of clotting factor VIII. About 8 out of 10 people with haemophilia have type A. Haemophilia B is due to missing or have low levels of clotting factor IX.

Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors. A male with haemophilia gene on his X chromosome will have haemophilia. When a female has a haemophilia gene on only one of her X chromosomes, she is a "haemophilia carrier” and can pass the gene to her children. Sometimes carriers have low levels of clotting factor and have symptoms of haemophilia, including bleeding. Clotting factors are proteins in the blood that work together with platelets to stop or control bleeding.

References

http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia

http://www.mayoclinic.org/diseases-conditions/hemophilia/basics/causes/con-20029824

Symptoms

Haemophilia can be mild, moderate, or severe, depending on how much clotting factor is in the blood. About 7 out of 10 people who have haemophilia A have the severe form of the disorder. Characteristic symptoms vary with severity. In general symptoms are internal or external bleeding episodes.

The extent and patterns of bleeding are closely related to residual factor VIII levels. Patients with severe haemophilia (< 1% of normal factor VIII levels) present with spontaneous bleeding into skin, muscle and joints. Retroperitoneal and intracranial bleeding is also a feature. Individuals with moderate and mild haemophilia (factor VIII levels 1–40%) present with the same pattern of bleeding. The major morbidity of recurrent bleeding in severe haemophilia is musculoskeletal with bleeding is typically into large joints, especially knees, elbows, ankles and hips. Muscle haematomas are also characteristic, most commonly in the calf and psoas muscles. If early treatment is not given to arrest bleeding, a hot, swollen and very painful joint or muscle haematoma develops. Recurrent bleeding into joints leads to synovial hypertrophy, destruction of the cartilage and secondary osteoarthrosis. Complications of muscle haematomas depend on their location. A large psoas bleed may extend to compress the femoral nerve; calf haematomas may increase pressure within the inflexible fascial sheath, causing a compartment syndrome with ischaemia, necrosis, fibrosis, and subsequent contraction and shortening of the Achilles tendon.

Babies with severe haemophilia have an increased risk of intracranial haemorrhage. Children with mild to moderate haemophilia may not have any signs or symptoms at birth especially if they do not undergo circumcision. Their first symptoms are noted about 6 months old when superficial bruising from falls as they learn to walk. Swelling and bruising from bleeding in the joints (haemarthrosis), soft tissue, and muscles may also occur. Females who are carriers usually have enough clotting factors from their one normal gene to prevent serious bleeding problems, though some may present as mild haemophiliacs.

Signs of external bleeding may include:

· Bleeding in the mouth from a cut or bite or from cutting or losing a tooth

· Nosebleeds for no obvious reason

· Heavy bleeding from a minor cut

· Bleeding from a cut that resumes after stopping for a short time

Signs of internal bleeding may include:

· Blood in the urine (from bleeding in the kidneys or bladder)

· Blood in the stool (from bleeding in the intestines or stomach)

· Large bruises (from bleeding into the large muscles of the body)

Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have haemophilia. This bleeding can occur without obvious injury.

At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.

Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't treated quickly can damage the joint.

Internal bleeding in the brain is a very serious complication of haemophilia. It can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:

· Long-lasting, painful headaches or neck pain or stiffness

· Repeated vomiting

· Sleepiness or changes in behavior

· Sudden weakness or clumsiness of the arms or legs or problems walking

· Double vision

· Convulsions or seizures

References;

http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/signs

Diagnosis

If there is bleeding problem, personal and family medical histories of the patient are  very important. This will reveal whether there were earlier episodes  of bleeding  in the family members, including women and girls. However, some people who have haemophilia have no recent family history of the disease.

Physical exam and blood tests to diagnose haemophilia are also advised. Blood tests are used to find out:

· How long it takes for the blood to clot

· Whether the blood has low levels of any clotting factors

· Whether any clotting factors are completely missing from the blood

The test results will establish on the possibility of haemophilia, type of hemophilia and how severe it is.

Haemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood.

Mild hemophilia

5–40 percent of normal clotting factor

Moderate hemophilia

1–5 percent of normal clotting factor

Severe hemophilia

Less than 1 percent of normal clotting factor

 

The severity of symptoms can overlap between the categories. For example, some people who have mild haemophilia may have bleeding problems almost as often or as severe as some people who have moderate hemophilia.

Severe haemophilia can cause serious bleeding problems in babies. Children who have severe haemophilia usually are diagnosed during the first year of life. People who have milder forms of haemophilia may not be diagnosed until they're adults.

The bleeding problems of haemophilia A and haemophilia B are the same. Only special blood tests can tell the type of the disorder. Knowing which type is important because the treatments are different.

Pregnant women who are known hemophilia carriers can have the disorder diagnosed in their unborn babies as early as 12 weeks into their pregnancies.

Women who are haemophilia carriers also can have "pre implantation diagnosis" to have children who don't have haemophilia.

For this process, women have their eggs removed and fertilized by sperm in a laboratory. The embryos are then tested for haemophilia. Only embryos without the disorder are implanted in the womb.

References

http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/signs

Complications

Severe complications are much more common in severe and moderate haemophiliacs. Complications may be both directly from the disease and from its treatment:

· Deep internal bleeding, e.g. deep-muscle bleeding, leading to swelling, numbness or pain of a limb.

· Joint damage from haemarthrosis (haemophilic arthropathy), potentially with severe pain, disfigurement, and even destruction of the joint and development of debilitating arthritis.

· Transfusion transmitted infection from blood transfusions that are given as treatment.

· Adverse reactions to clotting factor treatment, including the development of an immune inhibitor which renders factor replacement less effective.

· Intracranial haemorrhage is a serious medical emergency caused by the buildup of pressure inside the skull. It can cause disorientation, nausea, loss of consciousness, brain damage, and death.

Haemophilic arthropathy is characterized by chronic proliferative synovitis and cartilage destruction. If an intra-articular bleed is not drained early, it may cause apoptosis of chondrocytes and affect the synthesis of proteoglycans. The hypertrophied and fragile synovial lining while attempting to eliminate excessive blood may be more likely to easily    rebleed, leading to a vicious cycle of hemarthrosis-synovitis-hemarthrosis. In addition, iron deposition in the synovium may induce an inflammatory response activating the immune system and stimulating angiogenesis, resulting in cartilage and bone destruction.

Management

In severe haemophilia A, bleeding episodes should be treated by raising the factor VIII level, usually by intravenous infusion of factor VIII concentrate. In addition to treatment ‘on demand’ for bleeding, factor VIII can be administered 2 or 3 times per week as ‘prophylaxis’ to prevent bleeding in severe haemophilia. This is most appropriate in children, but its widespread use is limited by the high cost of factor VIII preparations.

The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that's missing or low.

Clotting factor concentrates can be made from human blood. The blood is treated to prevent the spread of diseases, such as hepatitis. With the current methods of screening and treating donated blood, the risk of getting an infectious disease from human clotting factors is very small.

Haemophiliacs may have replacement therapy on a regular basis to prevent bleeding. This is called preventive or prophylactic therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. This use of the treatment, on an as-needed basis, is called demand therapy.

Demand therapy is less intensive and expensive than preventive therapy. However, there's a risk that bleeding will cause damage before you receive the demand therapy.

Individualised homeopathic medicines may have an important supportive role in the management of Patients with Haemophilia, where blood products and factor concentrates are not easily available. It is always advised to   give Homeopathic Medicines under strict supervision of the qualified Homeopath

Ficus Indica (mother Tincture) is one remedy used to stop bleeding quickly. Arnica 6 c in given twice daily in some cases.

References

http://www.joedelivera.com/?p=355

For more details may see the link

  • PUBLISHED DATE : Nov 20, 2015
  • PUBLISHED BY : Zahid
  • CREATED / VALIDATED BY : Dr. Eswara Das
  • LAST UPDATED ON : Feb 09, 2016

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