Overview

Haemophilia A and haemophilia B

Haemophilia is a rare bleeding disorder where reduced levels of certain proteins in the blood (clotting factors) make you more likely to bleed.

In haemophilia A there is not enough factor VIII (factor 8).

In haemophilia B there is not enough factor IX (factor 9).

You can read the NHS information on haemophilia.

The Haemophilia Society has lots of useful information.

Acquired haemophilia

Acquired haemophilia is a very rare bleeding disorder, which affects about 1 in a million people. 

• Inherited haemophilia is when you have received altered genes from your parents.
• Acquired haemophilia develops later in life, because your immune system does not work properly, and produces faulty antibodies.

Antibodies are usually produced by your immune system to fight infection. In acquired haemophilia, the faulty antibodies destroy proteins in the blood which are needed to form strong blood clots to prevent bleeding. These are called clotting or coagulation factors. The most common cause of acquired haemophilia is a reduced level of factor VIII (8).

Acquired haemophilia usually affects older adults, and affects males and females equally. It can be triggered by autoimmune disease, cancer, or pregnancy, but often no cause is found. 

Acquired haemophilia causes increased bruising and bleeding. Bleeding may be in response to injury, but can also happen spontaneously (for no reason). Any type of bleeding can be seen, including:

• nosebleeds
• gum bleeding
• excessive and prolonged bleeding from cuts
• blood in the phlegm, pee (urine), poo (stool), or vomit

Sometimes spontaneous bleeds into joints or muscles occur, causing swelling, pain, bruising, and reduced movement. They also sometimes cause altered sensation.

Acquired haemophilia can be diagnosed from blood tests. Blood tests show reduced levels of whichever clotting factor is affected, and the presence of the problem antibody, known as the ‘inhibitor’.  

Acquired haemophilia needs different treatment to inherited haemophilia. There are 2 main goals, which are to:

• treat any bleeding
• stop production of the inhibitor

To treat bleeding we can use clotting-factor replacement with ‘bypassing agents’, such as:

• recombinant factor VIIa (NovoSeven^®)
• FEIBA
• porcine FVIII (Obizur)

These are all injected into the veins. A medicine called tranexamic acid can also be given as tablets or injections.

To remove the inhibitor, we give steroids (such as prednisolone tablets).

We also sometimes use extra treatments (such as rituximab or mycophenolate mofetil) to suppress the immune system. Immune suppression is usually continued until a full recovery is seen, which can take days to weeks, and sometimes, months. Immunosuppression increases the chance of catching infections, which can also be more severe.

People who have received immunosuppression need to be monitored closely for infection for a few months after stopping treatment.

Follow-up is needed after recovery to make sure the condition does not return. Most people only ever have 1 episode.

Von Willebrand disease

Von Willebrand disease (VWD) is a bleeding disorder where reduced levels of a clotting protein called von Willebrand factor (VWF) make you more likely to bleed. Factor VIII (8) can also be low in some cases.

You can read the NHS information about von Willebrand disease.

The Haemophilia Society also has information about von Willebrand disease

Rare bleeding disorders

Von Willebrand disease and haemophilia A and B are the most common types of inherited bleeding disorders. Other deficiencies in clotting proteins can also make you more likely to bleed, and these are known as ‘rare bleeding disorders’.

Examples of rare bleeding disorders are:

• factor XI (11) deficiency (also known as haemophilia C)
• factor VII (7) deficiency
• factor X (10) deficiency
• factor XIII (13) deficiency
• hypofibrinogenaemia or dysfibrinogenaemia
• prothrombin (factor II (2)) deficiency
• factor V (5) deficiency
• FXIII (13) deficiency
• combined FV and FVIII deficiency
• combined vitamin K dependent clotting factors deficiency (VKCFD)

These conditions are very rare and are usually inherited. They can affect males and females, and can range from mild to severe.

Usually, mild forms do not cause everyday bleeding problems. People are often diagnosed later in life, for example after unexpected heavy bleeding during surgery or dental extractions. Affected women can suffer with heavy periods, or excessive bleeding with childbirth.

Treatment of rare bleeding disorders is usually only needed occasionally, for troublesome bleeding, or to prevent excessive bleeding from:

• surgery
• invasive medical procedures
• dental work
• childbirth

In very rare severe cases, regular treatment might be given to prevent bleeding. The type of treatment depends on which clotting factor is deficient. In all cases, a medicine called tranexamic acid can be given, as a tablet or injected into the veins, to help minimise bleeding.

Sometimes, factor concentrates containing the deficient clotting factor may also be infused into the veins. Examples are:

• FXI concentrate
• recombinant FVIIa
• FX
• FXIII
• and prothrombin complex concentrate

Some of these are made using plasma from blood donations. Sometimes plasma or cryoprecipitate from blood donations is used instead, if factor concentrates are not available.

The Haemophilia Society has more information about rare bleeding disorders, including causes, inheritance, symptoms and treatments.

Platelet disorders

Platelets are small pieces of cells that circulate in the blood. When a blood vessel is injured, platelets stick to the damaged area and form a ‘plug’, helping to form a blood clot to stop the bleeding. Platelet disorders are conditions where there are not enough platelets, or they do not work properly, making you more likely to bleed or bruise.

There are different types of platelet disorder, and many of them are inherited. Platelet disorders are often mild conditions that do not affect people’s daily lives too much. They can cause excessive bleeding or bruising if there is an injury, surgery, medical procedures, childbirth or dental extractions. Affected women can get heavy periods. Rare severe forms, such as Glanzmann’s thrombasthenia, can cause significant bleeding problems, such as nosebleeds and bleeding gums.

Treatment for platelet disorders

Treatment is usually only needed for troublesome bleeding, or at high-risk times for bleeding, such as surgery, invasive medical procedures, childbirth, or dental work.

Treatment options include:

• tablets or an injection of tranexamic acid
• injections of the hormone desmopressin (also known as DDAVP)
• a transfusion of donor platelets
• recombinant FVIIa (which is an activated clotting factor, also known as NovoSeven).

These organisations have more information on platelet disorders, including causes, symptoms and treatments:

World Federation of Haemophilia

The Haemophilia Society has more information about Glanzmann’s thrombasthenia and Bernard Soulier syndrome.

Unclassified bleeding disorder

Some people have symptoms of a bleeding disorder, but all of our tests come back as normal. We might diagnose them with an ‘unclassified bleeding disorder’ (UBD), also known as a bleeding disorder of unknown cause (BDUC).

In the future we might be able to diagnose other bleeding disorders. We currently offer genetic testing on a blood sample, to see if there are any changes in genes related to blood clotting, although finding any that could cause problems is rare.

UBD only needs treatment if you have troublesome bleeding, or to prevent excessive bleeding at high-risk times such as:

• surgery
• invasive medical procedures
• dental work
• childbirth

The main treatment is tablets or an injection of medicine called tranexamic acid. Other treatments that are sometimes used, are:

• injections of the hormone desmopressin (also known as DDAVP)
• a transfusion of donor platelets
• a recombinant FVIIa (an activated clotting factor, also known as NovoSeven)