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Programme 4. - Haemophilia and Bleeding Disorders
RADIO 4
THURSDAY 18/08/05 1500-1530
PRESENTER:
BARBARA MYERS
CONTRIBUTORS:
PAUL GIANGRANDE
PRODUCER:
ERIKA WRIGHT
NOT CHECKED AS BROADCAST
MYERS
Hello. Well it's well known that haemophilia runs in families and that includes the Royal Family - Queen Victoria passed it on to her son Prince Leopold. But one in three cases is not inherited, it arises through a spontaneous mutation with the result that some young boys with unexplained bruising and bleeding have been mistaken for victims of domestic violence.
Fortunately, haemophilia, our subject today, is rare. In this country there are about 6,000 who are living with the condition. There is though another related bleeding disorder which is much more common, at least one in a hundred people are thought to have Von Willebrand's syndrome, that's a condition which affects women as well men and again causes frequent bleeding - nose bleeds, for example, or heavy periods, as well as significant bruising. Could this be you?
Well if you have any questions about bleeding disorders, whether or not you have a diagnosis, please call us now 08700 100 444 is the number or you can e-mail your questions to checkup - that's all one word - @bbc.co.uk and put your questions to my guest today, he's Dr Paul Giangrande from the Oxford Haemophilia Centre, you're very welcome, thank you for being here. And thank you for taking our first call which comes from Adrian who is in London who's asking: are there degrees of haemophilia? What - why are you asking that question Adrian?
ADRIAN
Well we're normally told that there are - haemophilia is a sort of all or none condition but we have a condition running in our family, I'm unaffected but my father was always told that he was mild and my uncle was far more severely affected and operations - any potential hospital operations were always considered a big worry. And the condition's been passed on through my sister to one of her children, my nephew, who bruises incredibly easily and usually sports a black eye from rumbustious playing with his other brother and sister and he's been told he's moderately affected. So I'm just wondering does the science back this up at all?
MYERS
Very interesting question, let's put it to Paul Giangrande.
GIANGRANDE
Thank you Adrian for the question, which is a very important one. Haemophilia of course is a disorder, as you've characterised, which is passed on within families, it affects men, it's carried by women. It is due to deficiency of one of the clotting proteins, the typical form of haemophilia is deficiency factor 8 although there is a similar form of factor 9 deficiency, also called Christmas Disease, which is clinically identical. We classify haemophilia by the baseline level of factor in the blood. And the severe form of haemophilia, and that's the person who's prone to having spontaneous bleeding to joints, by definition will have less than 1% of the relevant factor in the blood. Moderately severe haemophilia would have a level of between 1 and 5 and above that the person would have a mild form of haemophilia with no bleeding during day to day life but certainly the risk of bleeding after minor injury.
MYERS
So Adrian's nephew could get a reading then, could he, of how much blood clotting factor he has and then you would know just whether it is mild or more severe?
GIANGRANDE
Absolutely. It's the blood test which determines the severity. But an important point I want to emphasise is that the severity of haemophilia remains constant in a family. And therefore if someone has mild haemophilia in the family we can reassure a woman who might be a carrier of the condition that she could only pass on a mild form of the condition and certainly not a severe form. So the severity should remain constant in a given family.
MYERS
How is your family coping - how's your sister coping with her young son?
ADRIAN
Fine, I mean she's just coming up to the stage where she's not quite sure whether to wrap him in cotton wool or let him lead a normal life because he's getting to that age where he's fighting with his brother and seems to sport bruises. And they've had one or two scares at night where they have found my nephew sort of in a pool of blood one evening and they just couldn't stop the bleeding, so it was an emergency rush to the hospital that's their current hotline for therapy.
MYERS
And this must be something you see a lot at the haemophilia centre where you're dealing with whole families of course, because it's whole families who are affected.
GIANGRANDE
Of course and nowadays we have safe and effective treatment and we now in fact use genetically engineered products - both factor 8 and factor 9. Also in young children it can be very difficult to give treatment because the veins are often quite difficult to find. But I think the important message I want to get over is that people with haemophilia can and should lead entirely normal lives, so I wouldn't want to discourage this young child from playing about, normally they should lead entirely normal lives. When he gets a little bit older he'll be on regular treatment, two or three times a week to actually prevent bleeds, we call that prophylactic treatment.
MYERS
And would that be whether it's mild, moderate or severe you would have that prophylactic treatment?
GIANGRANDE
Generally we reserve prophylactic treatment in severe cases and in effect what we're doing is converting a severe form of haemophilia to a mild form by giving just enough factor by injections to make sure that that trough level, that baseline level of factor, is above usually 1 or 2% and that's enough to stop the spontaneous bleeds.
MYERS
And did you say Adrian that your sister had a couple of sons?
ADRIAN
Yes, the other one is unaffected, so it's only been passed through to the one son.
MYERS
So the risks of passing it on are what then amongst people?
GIANGRANDE
So if a woman is a carrier of haemophilia there's a 50/50 chance of passing that on to a male and there's a similar risk that a daughter could be a carrier. So in that regard Adrian was right - it is a black or white diagnosis, if a woman is a carrier the child will either be affected or it won't be affected, there's no real halfway house.
MYERS
Thank you very much for the call Adrian. We'll move to Portsmouth now, Sheila is waiting to talk to us and she wants to mention her husband's predicament. He's in his 80s and has acquired haemophilia. What's actually happened then, how do you know that he's acquired haemophilia at this stage Sheila?
SHEILA
Well about six weeks ago I discovered he'd got a horrendous bruise on his right leg and thigh mainly and I showed it to our GP when he visited and he said right a blood test tomorrow at the hospital. And so we went up there on the Wednesday and on the Thursday in the evening my husband said - my arm aches - and the next day he had bruising practically the length of his left arm where he'd had the injection.
MYERS
So has that been confirmed then that he has in fact now got haemophilia?
SHEILA
Yes, yes.
MYERS
Now I didn't realise - Paul, put us right on this - that you could pick up haemophilia at a later stage, I thought from what we were saying earlier about the genetics and so on that you were - you inherited this condition.
SHEILA
That's right yes, it came as quite a shock.
GIANGRANDE
I can imagine it did. But it is in fact the case that you can rarely acquire haemophilia later on in life. The classical form - the 6,000 patients you referred to in the United Kingdom - are people who've inherited the condition through their mothers. But in fact you can get haemophilia later on in life and very typically it is the middle aged or older people who are affected and very important this - it affects not just men but also women. In acquired haemophilia what happens is, it's what's called an autoimmune condition, in other words the body produces antibodies which gobble up the factor 8 that the body normally makes, so the level goes down. Now the good news is this is usually very amenable to treatment and the standard treatment is to give a course of steroids, for about six weeks and often the factor level then comes up. And if there's any bleeding in the intervening period then we can use various blood products. It's interesting to hear how your husband presented and I'm pleased the diagnosis was made so rapidly via a general practitioner, it is the case that you get bleeding into skin rather than into the joints with acquired haemophilia.
MYERS
Well it's interesting, it's a bit like buses, you wait a long time and then two come along at once because I've just been given an e-mail which is also about acquired haemophilia. We've got a message from Joanna and she says: I gave birth to my baby daughter 20 months ago, shortly after this I noticed bruising to my legs. She thought she might knocking into things. But it turns out that she has acquired haemophilia, has been given high doses of steroids, just what you were talking about, thankfully - she goes on to say - I've recovered, it's taken six months. But, she says, I can't have anymore babies as it is likely to return. It does say she's got a beautiful baby and a loving husband, which is good. Is that the case that this could be brought on by the birth and then it would preclude you from having another child?
GIANGRANDE
Following on from the last question I would say that about half the cases of acquired haemophilia have got some underlying identifiable cause and pregnancy's certainly one of those, there are other conditions, such as certain drugs that can provoke it. So yes it does happen very rarely after pregnancy. The good news is that it goes away. Often it takes a bit longer than the six months it took in Joanna's case, often up to 12 or 18 months. But the good news is that it's very rare for it to recur in subsequent pregnancies and I must emphasise that. Now there may be other reasons which we don't know here but what I would say very clearly is that one case of acquired haemophilia in Joanna should not preclude other possible pregnancies. Now I emphasise there may be other causes why pregnancy has been ...
MYERS
There may be a good reason, as you say, but not necessarily because of the acquired haemophilia.
GIANGRANDE
That's absolutely the case.
MYERS
Let's move to another call now. And thank you very much Sheila for yours. We'll go to Ruth who's in Rutland and suspects she has Von Willebrand's, this is the bleeding condition I mentioned, the rather more common bleeding disorder. What makes you think that you might have it Ruth, are you a bleeder?
RUTH
Yes. Fortunately I haven't had to have any operations for many years but when I have teeth removed I have extreme bleeding. Also as a young person I had very bad nose bleeds and I have very bad bruising for no apparent reason. And it is worrying, although my doctor just says oh well some people bruise, some people don't and doesn't take it very seriously. My dentist is concerned because I need to have a tooth removed at some stage in the not too distant future.
MYERS
Is he concerned about you because you bleed or because it might be something that he doesn't want to have to deal with - a bit of both perhaps?
RUTH
Well yes, I don't know.
MYERS
Okay, so, perhaps you could just give us a little bit more detail Paul about this Von Willebrand's, I mean is this perhaps a typical case - someone who bleeds very easily, bruises easily?
GIANGRANDE
Those are the classic symptoms. Von Willebrand's Disease is a much commoner disease than haemophilia and indeed many cases will be unrecognised in the United Kingdom. It's also important to distinguish it from haemophilia because it affects women just as much as men. The typical features of Von Willebrand's Disease are exactly that: easy bruising; a tendency to bleed easily from cuts and scratches, for instance a man nicking himself whilst shaving; recurrent nose bleeds as we've heard; bleeding in the setting of surgery or childbirth and that would include when we ask patients we often say have you had surgery and they may forget to mention things like tonsillectomy, appendicectomy. If someone has come through major surgery and they've not bled then that's a pretty good sign that there's unlikely to be something significantly wrong. But a history of easy bruising, bleeding after dental extractions and nose bleeds to me certainly would signal a requirement for blood tests and I think in this lady's case, Ruth's case, I would recommend screening through blood tests, which could be carried out by the general practitioner.
MYERS
Why though because if it's that common and it's seems a little bit superficial in that clearly you survived to tell the tale Ruth, why would you need a proper diagnosis?
RUTH
Well you can understand that to be covered in bruises when it's bad it can look horrible. I remember going to a Well Women clinic and the nurse being horrified, I think she thought I'd been subjected to some violent behaviour or something like that, you know, and so she referred me to the doctor and the doctor said oh well you haven't got haemophilia, which worried me rather because I'd never even thought it was that, it was just that I either heard a programme or came across the other disease - Von Willebrand's - a couple of years ago ...
MYERS
So in a way it helps to have a diagnosis so that people know that you're not being knocked around and they also know that you do have this tendency and can deal with it if necessary. And would there be any treatment - let me ask Paul?
GIANGRANDE
Well I think the reason I would want to do a diagnosis here is not because there's an easy - wand that I can wave to get rid of easy bruising, easy bruising is a very common problem and the majority of people who have easy bruising don't have some underlying bleeding disorder. But in this lady's case to hear also of the bleeding history - of the nose bleeds and the bleeding after the dental extraction - I think it's useful to have a diagnosis and particularly since I understand that you're just going to be having perhaps a further dental extraction in the future. And there is treatment that could be given to cover the dental extraction. As I say there wouldn't be an easy remedy to stop easy bruising but I quite agree having a diagnostic label is useful.
MYERS
Well let's go to Kate in Cardiff, who I think is in a similar fix to Ruth, which is to say again bruising easily, has heavy periods, wondering whether she should be investigated. Are you beginning to feel that there is something a little bit more to this than just one of those things?
KATE
Well firstly I feel a little bit uncomfortable coming on here because I feel like I'm being very vain really and that I've had three caesareans and no problem was ever reported to me. So - which is probably the reason why I've never really followed this up because although I have a lot of unsightly bruising - I mean my friends think it's hilarious, it's oh Kate's got another crop of bruises - I've always felt that it was probably a bit trivial and not worth - well not that it's not worth bothering about but that there was nothing really anybody was going to want to do for me because it didn't affect me more seriously.
MYERS
Not exactly life threatening in other words.
KATE
No but, you know I'm still a youngish woman and find that I'm kind of covering up at times when I've got a particularly bad ...
MYERS
So would you in fact like to have an investigation, get a diagnosis and if it turns out to be Von Willebrand's then have some sort of treatment for this, is that the point - you would actually like to find some way of preventing the bruising - is that the case?
KATE
Well yes it was - a friend of mine mentioned that they'd heard something somewhere about possibly this being related to iron levels and it's certainly true to say that I - my haemoglobin levels are not very good and they sort of - I alternate between being acceptable and going back on iron treatments and I wondered if that might have anything to do with it.
MYERS
Well let's hand you over to the expert Paul Giangrande, let's look at that, whether you can treat this and whether there is an issue if you are bleeding a lot whether you're going to be, as a woman, anaemic, it's quite often that women are borderline anaemic anyway as a result of the menstrual cycle, with additional bleeding it could push you over couldn't it?
GIANGRANDE
Absolutely, there are several important issues here. I think the first is to emphasise that heavy menstrual periods can also be a sign of Von Willebrand's Disease, I'd want to emphasise that point. There are several studies that have shown that if you follow up women who are referred to hospital for investigation of heavy periods and who don't have an underlying cause such as fibroids, between 5 and 15% of those will have underlying disorders such as Von Willebrand's Disease. Having heavy menstrual periods is literally a drain on the iron stores and ultimately this can be reflected in iron deficiency anaemia. I want to also come back to the question of the caesarean sections because the fact that Kate has undergone these surgical procedures without bleeding shouldn't put us off the track because we know that the levels of Von Willebrand's in fact actually rise during pregnancy to the extent that they often, in women who start out with low levels in early pregnancy, reach the normal range by the end of pregnancy. So the fact that she's not bled after these caesarean sections doesn't put me off. But I think heavy periods to the extent of developing sufficient - to developing iron deficiency anaemia, again with the bruising history, makes me think that blood tests here are warranted.
MYERS
And talk us through a little bit about possible treatments. We know that haemophilia there you replace the clotting factors that are missing, would you be doing the same thing in this case?
GIANGRANDE
Well depending what the underlying problems are, just to say, just to repeat, that easy bruising, which has been a problem for the last two ladies who've called in, there is no easy remedy for that. For the underlying problem, for instance, of nose bleeds or heavy periods there are treatments, we've got a number of tools in our armamentarium, we can start with a drug called Tranexamic acid, for instance, which is available as tablets or syrup, very effective in controlling nose bleeds, controlling the blood loss during the menstrual cycle. There's also a drug called DDAVP, also known as desmopressin, which can be given by injection or nasal spray. And for heavy menstrual periods actually going on an oral contraceptive pill containing oestrogen is also a great help.
MYERS
So there are some options there. We've got a lot of calls on this, Sandra from Staffordshire, just wants to comment that she has Von Willebrand's, didn't know for 54 years, so she survived again to tell the tale. But in her case was tested at the point where her grandson had severe bruising and then presumably it became very clear that this is in the family. Another example of the pattern of inheritance.
GIANGRANDE
It is the case that many cases of Von Willebrand's Disease are not recognised at an early stage and Sandra's would be a typical case where it's highlighted later on in life, often as a result of family investigations and I think it's important to make that point - that if you identify a bleeding disorder in one person then the testing has got to be extended to look at other family members because if you identify, in this case a grandson, then the disorder has come from somewhere and we need to track it back in the family.
MYERS
Okay thank you very much. And thanks to Kate for her call. We'll go to Guildford and Mrs Denton, who's got a history of bleeding, Mrs Denton with a question attached, what's your question.
DENTON
Yes, hello doctor. I have all the symptoms that would indicate Von Willebrand's and at my age it is advised by some people to take half an aspirin a day to avoid heart attacks but when I had my last session of nose bleeds in 1988 I was told no aspirin, no alcohol. I haven't had any heavy bleeding since then and the doctor did test and say it was satisfactory - the clotting factor was satisfactory. But I'm still a little puzzled as to whether aspirin is advisable under those circumstances.
GIANGRANDE
Thank you Mrs Denton for a very important question and what I would say is that I would ask you to avoid taking aspirin. People who are known or suspected to have a bleeding disorder, be they people with haemophilia, Von Willebrand's Disease or other disorders like that, should not take aspirin. Aspirin stops the effective function of platelets, which are tiny cells in the blood which contribute to the clotting process, and if you take aspirin then you will exacerbate the bleeding or bruising tendency. It's not just aspirin incidentally, it's also what we call non-steroidal anti-inflammatory drugs such as, for instance, ibuprofen. You've got to remember that aspirin is found in many drugs over-the-counter, for instance even for headache remedies or hangover remedies for instance, so check the contents carefully. Another important message is though that paracetamol is perfectly safe as an alternative for those headaches or aches and pains that you might wish to use aspirin for. So please use paracetamol, avoid taking aspirin, although one thing I don't agree with is the alcohol - I see no reason whatsoever why you should not enjoy the odd tipple of alcohol, that is not contraindicated just by virtue of having a bleeding disorder.
MYERS
Good, have one on the doctor in that case. Thank you Mrs Denton. We go to Blackpool and Julie or at least we've got a message from Julie in Blackpool to say that her mother has been on warfarin for years and bruises easily, is this a form of haemophilia?
GIANGRANDE
Warfarin is a drug given to thin the blood, to stop it clotting effectively and it's usually given to people who have quite the opposite tendency - they've had a thrombotic problem such as a deep vein thrombosis in the leg ...
MYERS
Which is a clot.
GIANGRANDE
Which is a clot and therefore they're given a drug which is actually stopping the blood clotting. And it's a drug which needs to be - that we check the level periodically, typically every four to eight weeks. Inevitably by being on a drug that thins the blood and stops it clotting there will be a bleeding tendency which can be manifested as a bruising tendency. So to some extent it's to be expected whilst on warfarin treatment.
MYERS
And I'd like to take another e-mail, doesn't give a name, but doesn't matter. And it's about - back to haemophilia, the, if you like, the rather more serious condition - and the question is: my girlfriend's father has haemophilia, so what are the implications for our children? Can we find out if she's a carrier and what will happen if she is? Now this is quite a complicated business of what you do if you know that there's a family history.
GIANGRANDE
Well the answer's clear actually and that is the daughter of a man who has haemophilia is a carrier of haemophilia - there is no need to do further tests. We can say that the son of a man with haemophilia's normal, he has no chance of passing on the condition and won't be affected, but the daughter of a man with haemophilia is a carrier for that condition. There is a 50/50 chance that she will pass the condition on to a son of her own and a similar chance that her daughter will be a carrier. Remember also that the severity remains constant in the family, so it would be interesting to find out in this case whether in fact this young lady's father has got severe haemophilia or a mild form because then we can advise. It is actually possible to offer antenatal diagnosis of haemophilia, that there is a well established process for doing that.
MYERS
So we're into the area of genetic counselling which must be very important, very helpful for people to understand what the possible risks are and to understand what they might want to do about that. Okay, thank you very much. We've got another call, I think we're going to Margaret, who's in Manchester, and has Christmas Disease in August - sorry. Tell us about Christmas Disease and what's your question please Margaret.
MARGARET
Well originally my question was regarding my grandchildren who were diagnosed negative to blood clotting disorders but as they've got older they have actually developed them. I was first diagnosed after a massive postpartum haemorrhage aged 18 and was put on the haemophiliac register here in Manchester then. It had repercussions in my own life in that my periods were extremely heavy and I was chronically anaemic.
MYERS
We're going to have to get a very quick question because we're very nearly out of time, is there anything in particular that you'd like Paul to comment on?
MARGARET
Right, I would have thought having Christmas Disease I was unlikely to clot with a heart attack when in actual fact this has happened to me twice.
MYERS
Okay, let's get a quick comment if we may, sorry to chase you along there.
GIANGRANDE
People with severe haemophilia and as in your case women with modest reductions in the factor 8 or 9 level, as in your case, can have heart attacks and can have clot formation. What we have to say is that the risk is much lower than the general population, so there's a clear answer - yes there is a risk of clotting, heart attacks in haemophilia and carrier women but it's much lower than the rest of the population.
MYERS
And that's where we will have to finish, time has beaten us, as it always does. Thank you very much for all your calls and special thanks to my guest today Dr Paul Giangrande from the Oxford Haemophilia Centre. If you missed any of that very expert advice you can listen again, you can go to our website - bbc.co.uk - follow the links to Check Up. Or if you prefer to speak someone call our free and confidential help line - 0800 044 044.
Next week we're back with back pain.
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