Download Rarer Conditions and Platelet Disorders (Source: Haemophilia

Rarer Conditions and Platelet Disorders
(Source: Haemophilia society website)
Introduction
The walls of the blood vessel contract when injured. This limits the blood flow as specialised cells
called platelets rush to the damaged site and stick along the surface of the blood vessel. By
sending chemical signals, platelets recruit other cells to the damaged area for a 'platelet plug' to be
formed. The chemical chain reaction that follows is called 'the coagulation cascade', whereby
many different proteins that control bleeding (called clotting factors) work together towards the
formation of a fibrin clot and this acts like a mesh over the platelets.
What are rarer bleeding disorders?
Bleeding disorders are conditions where the blood fails to clot properly. These conditions are rare
in the general population affecting around 24,000 people in the UK. They are mostly inherited,
although they can also be acquired. Haemophilia A and B (Factor VIII and Factor IX deficiency)
are the most common bleeding disorders. Von Willebrand's disease is characterised by a
deficiency in von Willebrand's factor, sometimes combined with a factor VIII deficiency.
However, there are rarer bleeding disorders, namely:
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Factor deficiencies I, II, V, VII, X, XI, XII and XIII
Platelet disorders such as: thrombocytopenia
Bernard-Soulier syndrome
Alpha Granule Deficiency/ Gray Platelet Syndrome
Glanzmann’s Thrombasthenia
Dense Granule Deficiency/ Delta Storage Pool Deficiency
Less is known about these bleeding disorders and further research is needed. Although there is no
cure for these disorders, effective treatments are available. A proper diagnosis of your particular
condition is crucial for you to obtain the right treatment. For each of the rarer bleeding disorders
symptoms will vary according to the degree of the missing factor. Without treatment, prolonged
bleeding may follow major injury, surgery, or childbirth. Advances in medical science make it
possible for children born now to look forward to a normal life expectancy, to take part in
education, training, sport, employment and travel opportunities.
For more detailed information on general issues and other disorders please see the other two
booklets in the series: A General Introduction to bleeding disorders or An Introduction to
haemophilia. Registering at a Comprehensive Care Centre or Haemophilia Centre is the best way
to obtain specialist information and care. Some centres now have a girls/young women’s clinics
too. The contact details of all the Centres are on the Haemophilia Society website, and you can go
through your GP or call yourself.
What are factor deficiencies?
Having a factor deficiency means that you do not have enough of a certain factor in your body
and your blood does not clot as it should. In the most severe cases, a certain clotting factor is
totally missing. Treatments usually consist of replacing the missing factor. When a single clotting
factors is not available for a condition you may be treated with plasma containing all the factors
by intravenous infusion. If your condition is severe, you may benefit from prophylaxis, or regular
treatment, to prevent bleeding. In some cases, you may be able to take your treatment home, or on
holiday. For minor bleeding you may be treated in a different way, each case is different.
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How do you get bleeding disorders?
Most bleeding disorders are genetic conditions, and thus run in families. Rarely, these are
developed or acquired, mainly because of another illness. The cells which make up our bodies are
programmed with instructions from our parents. These are the genes that hold the genetic
instructions for life. Haemophilia A and B are caused by genes that are sex-linked, meaning that
men are affected by the condition, and women are carriers.
Most of the rarer bleeding disorders, however, are caused by regular genes which are not sexlinked, and thus affect men and women equally. They follow an autosomal recessive
pattern,meaning that both parents are carriers and pass the gene on to the child. These bleeding
disorders seem to be more common in areas of the world with the tradition of marrying close
relatives such as cousins, either recently or in the past. A few of these disorders follow a dominant
inheritance pattern, where only one parent is a carrier for the child to be affected with the
condition.
If you would like more information on genetics and genetic counselling, please see our General
Introduction book. If you are concerned about these issues, you might like to request a referral for
genetic counselling.
Tips to prevent complications:
The following tips are known to help avoid some possible complications of bleeding episodes:
The PRICE regime: Protection, rest, ice, compression and elevation is a good first-aid method
for treating bleeds and swelling.
Physiotherapy: Specialist physiotherapy can be invaluable to prevent damage after bleeds. A
physiotherapist can also help with corrections to walking gait and weight-bearing.
Exercise: Regular exercise are highly recommended to keep the joints and muscles strong,
preventing bleeds, and staying at a healthy weight.
Dental care: Dental work can cause bleeding problems, so looking after your teeth is really
important for people with bleeding disorders.
Medic Alert: Carrying the details of your condition and any allergy you may have on you in case
of an accident or emergency.
Medication to avoid: Never take aspirin (or any medication containing aspirin) as it interferes
with clotting. This also applies to other substances such as nonsteroid anti-inflammatories like
ibuprofen, and some herbal remedies and Chinese herbs so check with your Centre first.
Alcohol irritates the lining of the stomach and may also cause bleeding so be aware and check
with your centre before using certain
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