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World Haemophilia Day

Reasons to choose Wilson Browne

Wednesday 17th April 2020 will mark World Haemophilia Day. This day is an awareness day for haemophilia and other bleeding disorders, which also serves to raise funds and attract volunteers for the World Federation of Haemophilia.

The Haemophilia Society is the only UK wide charity for everyone affected by bleeding disorders.

People with bleeding disorders, have a condition that means the blood can’t clot properly. Those with bleeding disorders experience bleeding for longer and may sometimes experience spontaneous bleeds into joints, muscles and soft tissues. Some of the most common bleeding disorders include:

Haemophilia A

Haemophilia A is a bleeding disorder where a protein made by the body to help make blood clot is either partly or completely missing. This protein is called a clotting factor: with haemophilia A there is a deficiency of clotting factor VIII (eight). It is a genetic condition and nearly everyone who has this condition is born with it.

Haemophilia A mainly affects boys and men. Women can be ‘carriers’ of the affected gene and may experience symptoms. Although it is the most common type of haemophilia it is a rare condition, affecting about one in every 10,000 males.

Haemophilia B

Haemophilia B is a bleeding disorder where a protein made by the body to help make blood clot is either partly or completely missing. This protein is called a clotting factor: with haemophilia B there is a deficiency of clotting factor IX (nine). Haemophilia B is a genetic condition with everyone who has it was born with it. Around two thirds have a family history of the disorder whilst in the rest it is a new case.

Haemophilia B mainly affects boys and men; women can be ‘carriers’ of the affected gene and may experience symptoms. Only about 20% of people with haemophilia have haemophilia B, so it is a rare condition, affecting about one in every 50,000 males.

von Willebrand disease

von Willebrand disease (vW) is a bleeding disorder which affects the blood’s ability to clot. People with vW have low levels of a protein involved in blood clotting, von Willebrand factor (vWf) in their blood, or their vWf doesn’t work very well, so it takes longer for bleeding to stop. vW affects both men and women equally, though women may experience more problems linked to periods, pregnancy and childbirth. It is also estimated around 1% of the world population may be affected.

If your blood doesn’t clot properly, you can have bleeding symptoms such as easy bruising, nosebleeds, and heavy periods. It may also be hard to stop bleeding after injury or surgery.
vW is usually inherited: passed from parents to their children through their genes, especially in severe cases. You can’t ‘catch’ it from someone else, but, very rarely, it’s possible to acquire the disorder as a result of another medical condition.

Many people with vW may not know that they have the disorder because their bleeding symptoms are very mild – research suggests that as many as 9 out of 10 have not been diagnosed.

For most people with vW, the disorder causes little or no disruption to their lives except when there is a serious injury or need for surgery. However, with all forms of vW, there can be bleeding problems, and in occasional severe cases, internal bleeding to muscles and joints can occur in a similar way to haemophilia.
Treatment will be tailored to each person’s specific condition, but options include Tranexamic Acid (Cyklokapron), Desmopressin (DDAVP) and von Willebrand Factor replacement therapy.

Symptoms

The symptoms of haemophilia depend on how severe the condition is, but the main sign is prolonged bleeding.
The bleeding may occur spontaneously. For example, this could be:
• sudden nosebleeds
• bleeding gums
• joint bleeds (bleeding inside your joints, such as elbows)
• muscle bleeds

The bleeding may also occur after a medical procedure, such as having a tooth removed.

The severity of haemophilia is determined by the level of clotting factors in a person’s blood:
• mild haemophilia – between 5 and 50% of the normal amount of clotting factors
• moderate haemophilia – between 1 and 5%
• severe haemophilia – less than 1%

Mild haemophilia
Children born with mild haemophilia may not have any symptoms for many years.
The condition usually only becomes apparent after a significant wound or surgery, or a dental procedure such as having a tooth removed. These events could cause unusually prolonged bleeding.

Moderate haemophilia
Children with moderate haemophilia are affected in the same way as those with mild haemophilia, but also bruise easily.
They may also have symptoms of internal bleeding around their joints, particularly if they have a knock or a fall that affects their joints. This is known as a joint bleed.

The symptoms usually begin with a tingling feeling of irritation and mild pain in the affected joint – most commonly the ankles, knees, and elbows. Less commonly, the shoulder, wrist, and hip joints can also be affected.

If a joint bleed isn’t treated, it can lead to:
• more severe joint pain
• stiffness
• the site of the bleed becoming hot, swollen, and tender

Severe haemophilia
The symptoms of severe haemophilia are similar to those of moderate haemophilia. However, joint bleeding is more frequent and severe.

Children with severe haemophilia have spontaneous bleeding. This means they start bleeding for no apparent reason.For example, this could be:
• nosebleeds
• bleeding gums
• joint bleeds
• muscle bleeds

Without treatment, people with severe haemophilia can develop:
• joint deformity, which may require replacement surgery
• soft tissue bleeding
• serious internal bleeding

Tests and diagnosis

Blood tests can diagnose haemophilia and find out how severe it is.
If there’s no family history of haemophilia, it’s usually diagnosed when a child begins to walk or crawl. Whereas mild haemophilia may only be discovered later, usually after an injury or a dental or surgical procedure.

Genetic tests and pregnancy
If you have a family history of haemophilia and you’re planning to get pregnant, genetic testing and counselling can help determine the risk of passing the condition on to a child. This may involve testing a sample of your tissue or blood to look for signs of the genetic mutation that causes haemophilia.

There are a few tests during pregnancy which can diagnose haemophilia in the baby, however if you suspect haemophilia after your child is born, a blood test can ususally confirm this.

Treatment

The recommended treatment plan for haemophilia depends on how severe the condition is.
There are two main approaches to treatment:
• preventative treatment – where medicine is used to prevent episodes of bleeding and subsequent joint and muscle damage
• on-demand treatment – where medicine is used to treat an episode of prolonged bleeding

Haemophilia is usually treated by a team at a specialist haemophilia hospital department.
Preventative treatment
Most cases of haemophilia are severe and need preventative treatment. This involves regular injections of clotting factor medicine.
If your child has haemophilia, you’ll be trained to give them the injections when they’re young. They’ll be taught how to inject themselves when they’re older to help avoid regular hospital appointments.
In some cases, injections may be given into a device called an implantable port, which can be surgically placed under the skin. This port is connected to a blood vessel near the heart, so you don’t need to try to find a vein for every injection.
People having preventative treatment need regular follow-up appointments with their care team so their progress can be monitored.

Preventative treatment is usually continued for life. It may be possible for someone to change to on-demand treatment, but they may be advised to switch back to preventative treatment if they have any episodes of significant bleeding.

On-demand treatment
In mild or moderate cases, treatment for haemophilia may only be necessary as an immediate response to bleeding.
People with haemophilia A can be treated on-demand with injections of octocog alfa or a medication called desmopressin.
Desmopressin is a synthetic hormone and is usually given by injection. Possible side effects of desmopressin include headache, stomach pain, and nausea.
On-demand treatment for haemophilia B usually involves injections of nonacog alfa.

Complications of haemophilia

Complications can include developing inhibitors in your immune system, and joint problems.
Some people who take blood clotting factor medicine develop antibodies in their immune system, called inhibitors, that make the medicine less effective.

People having treatment for haemophilia should be regularly tested for inhibitors.
Inhibitors can be treated with immune tolerance induction (ITI). This involves daily injections of clotting factors so the immune system should begin to recognise them and stop producing inhibitors.
ITI is usually offered to people with severe haemophilia A. People with haemophilia B may be offered ITI, but it’s less effective and carries a risk of anaphylaxis for them.
People with mild or moderate haemophilia A who develop inhibitors may be offered either bypass therapy or immunosuppressants.
Bypass therapy uses a medicine called bypass agent to stop bleeding when it happens.

Joint damage
Joint bleeds can damage the soft spongy tissue in your joints called cartilage, and the thin layer of tissue lining the inside of the joint (synovium). Joint damage is more common in older adults with severe haemophilia. It’s hoped modern treatments mean children growing up with haemophilia today won’t have joint damage.
Surgery can be used to remove damaged synovium so new synovium can grow. Serious damage to a joint may mean it needs to be replaced – for example, a hip replacement or knee replacement.

Louise Tyler

Posted:

Louise Tyler

Partner

Louise is the Head of the Medical Negligence Team working in this area of law for 25 years. She is a member of the Law Society Clinical Negligence Panel, the AvMA (Action for Victims of Medical Accidents) Panel and been appointed to the Executive Committee…