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Glanzmann Thrombastenia

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A rare congenital abnormality of blood platelets, characterized by easy bruising and excessive bleeding after trauma and epistaxis. The platelet membrane lacks specific glycoproteins Iib and IIIa which are the receptor of fibrinogen. Bleeding is prologed, clot retraction is diminished, and platelets do not aggregate during blood coagulation or after addition of ADP (adenosine diphosphate).
Also known as: Glanzmann's syndrome, Glanzmann-Nägeli syndrome, Nägeli syndrome II, Révol's syndrome.

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      09.04.2006 19:17
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      Rare genetic blood disorder

      My life began almost 36 years ago and I was brought up in a two-bedroom council flat with my mum and dad who will celebrate their 40th wedding anniversary next year. I am an only child as my mum had a major health problem - namely Glanzmann's Thrombasthenia, or GT, which is a platelet disorder and means that she is a bleeder. This tends to happen through nosebleeds or her gums bleeding but obviously childbirth can have its problems too. She has had many visits in hospitals over the years and even a simple scale and polish of her teeth requires preventative treatment for bleeding before it's carried out.

      My mum is a real star to have handled all this in her stride and she considers herself lucky to be alive, especially since she had 2 siblings who also had the disorder and didn't survive into adulthood. This review is dedicated to her and the other sufferers out there who carry on with their lives as though everything is fine.

      ***Background***

      Eduard Glanzmann was a Swiss doctor who specialised in paediatrics. He studied in Zurich, Berlin and finally graduated in Berne in 1914. In 1918 he discovered a rare genetic condition that slowed down the reaction of platelets and so bleeding was prolonged. He also noticed that it seemed more prevalent in certain families and so he further discovered that it was a hereditary disorder.

      There has been a lot of research since then and it has been found that there are different strains of the disorder, which vary in severity and that the deficiency of the platelet membrane glycoprotein complex is involved. The chromosome affected is 17. I realise this can be complicated but it is difficult for a non-scientist like myself to simplify these things.

      To try to do this you can imagine that there are around 30000 genes that make up a person's DNA. Genes are passed on at the time of conception and they determine a number of things including eye colour, hair colour, height and any hereditary conditions that the parents have.

      In order for a child to inherit GT both parents have to be carriers and each have to pass on the defective gene. If only one parent passes on the gene the child will become a carrier.

      The three types are decided on the level of the platelet deficiency in Glycoprotein IIb/IIIa.

      Type 1: This is the most severe with sufferers having less than 5% normal levels

      Type 2: This is less severe with sufferers' levels between 5% and 20 % normal

      Type 3: This is the least severe where levels are more than 50% normal but the platelets do not rush to the scene of a bleed normally.

      The disorder will become apparent early on in childhood as heavy bruising appears very easily and bleeding can occur from the nose. This can obviously be very distressing for parents and there have been instances where abuse has been suspected before a diagnosis has been reached. This can affect both boys and girls so it is a bit different to the other more common bleeding disorder Haemophilia that girls carry and boys suffer from.

      Other symptoms that occur as children get older are petechial spots, bleeding from the gums and heavy periods can be a problem for girls. Petechial spots are small red marks on the skin that indicate bleeding below the surface, similar to a bruise but on a smaller scale. Muscle injuries have to be dealt with carefully as sometimes they can bleed into joints and that can be severe. Obviously any type of surgery can also be life threatening and the most simple procedures have to be done with extra care.

      It has been said that the condition isn't so bad as the sufferer gets older but this could be due to many factors such as being more careful when cleaning teeth or blowing your nose. Of course children are more likely to get bruises than adults when they are going about their daily play.

      ***The Carrier Process***

      As the daughter of a sufferer I have been tested to see if I have the disorder, and luckily I don't but I have been told I will be a carrier. This upsets me a little bit as I don't know whether I have passed this gene on to my children and as yet, there is no test available to find this out in the UK, as far as I'm aware, although I have been led to believe that testing is available in the USA. Of course they would only be affected by the disorder if both parents carried the gene. This is what happened in my mum's case.

      They say that carriers don't normally have symptoms but I'm not so sure if this is the case as I have had some of the lesser symptoms myself such as heavy periods when I was younger and I get very big purple bruises from some of the slightest of bumps. I also had a Post Partum Haemorrhage after my 3rd child and rapidly lost 4 pints of blood. Luckily everything was sorted in theatre quickly and I recovered to tell the tale but I can't help wondering if Glanzmann's played a part in it.

      My children also have to be made aware that if they decide to get into a serious relationship, where they are deciding to have children, then the question that they may be carriers has to come up and a little bit of medical discovery should be done concerning their partner's family. I suspect that my elder daughter may be a carrier too as she has had a lot of nosebleeds in her life too although her platelet count is normal as most carriers show to be.

      ***Life as a Sufferer***

      Obviously this must be very upsetting for parents to see their child have constant nosebleeds that never seem to stop and be covered in huge bruises all the time and in my mum's case she has had to have many blood transfusions over the years, many of these before testing procedures came into force for Hepatitis and HIV. Luckily, she is clear of these diseases and now gets immunisations for Hepatitis but when she was young they didn't do transfusions through a needle the way it is done now. It involved cutting to get to the vein and stitching up afterward. Not a very pleasant experience for a young child to go through.

      When she was about 4 she went through a very traumatic time as she had her baby teeth taken out. This was due to premature rotting caused by difficulty in cleaning them due to the fact her gums bled. She wasn't really expected to survive this procedure and because of the way transfusions were done she had to learn to walk again following this.

      She has also undergone surgery to remove her appendix and this of course was another dangerous time for her. Again though she survived.

      Pregnancy was a difficult time for her as she had a grand total of 22 pints of bloods in transfusions whilst I was growing inside her. The birth itself wasn't as bad as was expected but she was pretty much sedated at the time so doesn't really remember much about it. There were no complications though and she recovered yet again.

      Nowadays she is much better than she used to be but her gums do still bleed on a daily basis and she hates wearing short sleeves or skirts as the slightest knock causes a massive bruise. She is convinced people who see them will think that my dad beats her up. Luckily to those who know the situation this can become a bit of a joke between them after all the time they have been together.

      I do remember one time when I was about 7 or 8 having to run over the road to get a neighbour to help phone my dad at work - he worked nights in another town and this must have been about 2 in the morning. My mum was rushed up to hospital holding a basin as the blood in her nose just poured out. I remember thinking this was going to be the last time I saw her, as it just seemed to keep on and on bleeding. Of course when we arrived at the hospital her nose was packed and she was given transfusions and platelets to help her out.

      ***Prevention***

      There are certain things that can help prevent the thinning of blood and of course taking aspirin is definitely out for a person with GT. Eating certain types of food that are meant to be good for most people can be a danger to sufferers. Onions, garlic and even dark chocolate all have properties that can help your arteries by thinning the blood but this should of course be avoided.

      I mentioned earlier about vaccinations and this should be done to help prevent getting conditions such as Hep A and Hep B which can still be transmitted by blood transfusions on rare occasions even though it is screened for now.

      Good dental care is essential and your doctor should be able to get you to the right dentist. My mother attends the dental hospital for her treatment but often needs an overnight stay after any basic treatment that we would normally take for granted.

      Being careful when playing sport or even riding a bicycle is essential. When my mum was growing up there were no cycle helmets and she did fall off her bike a couple of times. She had a few injuries because of this such as a large bump on her head and severe bruising and cuts to her legs and arms.

      For children with GT it is a good idea to keep nails short so they can't scratch themselves and be careful if you are in a place where insects are plentiful as bites can also cause bleeding.

      Regular checkups with your specialist are essential and they will take bloods and ask how you have been since your last visit. Often sufferers have low blood counts and iron has to be taken on a regular basis. My mum's last count was 6.6 which is pretty low and with this brings tiredness and breathlessness.

      ***Treatments***

      The only known cure for this condition is by having a bone marrow transplant but of course this can be very dangerous so it will only be done in life of death circumstances.

      Nowadays, there are many things that can be given to help to stop the bleeding. One of the main ways has been platelet transfusions but there is a problem of developing antibodies to the platelets and can cause severe reactions. Even cell filtration doesn't always stop this from happening so an artificial platelet called NovoSeven has been developed. There is also the benefit of there being no chance of viral transference with this option, as it doesn't include human plasma or albumin.

      Another drug that has been found to be useful for stopping bleeding is tranexamic acid, which comes in both the form of a pill and of a mouthwash. The mouthwash is especially good for using after dental treatment has been carried out and my mum has found this to be a great help to her.

      Nosebleeds are usually either packed or cauterised however, there is apparently a new type of gel foam soaked in a substance called topical thrombin to help with this.

      ***The Future***

      Well hopefully scientists will be able to detect carriers so that we are better informed when deciding whether to have children. My own grandmother and grandfather do not recall anyone in their families suffering so it could have gone back far enough through the generations. This has been the case with other's I have spoken to as well.

      If there are any sufferers of GT out there reading this then I hope some of the information has helped and the fact that my mother has lived through the traumas she has gone through, will give parents of sufferers hope. If anyone wants to get in touch then I would look forward to hearing from you, as there doesn't seem to be many people around with the disorder or many children with a GT parent like myself, and it's difficult to get opinions from other's regarding this.

      There is a website out there that offers information and also has a notice board on it where people can post their experiences and ask for advice from others. This is based in the USA but it has proved to be very useful to my mother who has since learned of another woman who is of a similar age and has gone through similar experiences as her. You can also get information from the Haemophilia Society who deal with all types of bleeding disorders including Von Willebrands, which my mum was originally diagnosed as having.

      www.glanzmanns.com
      www.haemophilia.org.uk

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