Q&A with Graham Hughes – 29 July
This video was recorded on 29th July 2020 and answers some questions put to us from the GHIC community about APS. You can read a transcript of the video below.
Henry: Hi, Henry Shelford here with Professor Graham Hughes, hello Graham
Graham: Hello, thank you for having me!
Henry: Well thank you, it’s great to have you here. Now the secrets of this studio, for everyone who knows that we are actually in the same room, we’re socially distanced and that’s why we’ve got two cameras, one on me one on YouTube or otherwise looking at each other from a proper distance just to explain to everyone how we’re set up. So I’m really excited to to be doing this with you, a live Q&A on Facebook and Twitter and YouTube all at the same time, it’s going to be there for catch up and if you’re not able to watch the whole thing it will remain up there and we’re going to embed it on the website too. Now Professor Graham, he’s a man who needs no introduction but that is not going to stop me and I’m going to do one anyway. So: a consultant rheumatologist, set up Europe’s first dedicated Lupus clinic, The Hammersmith Hospital, so that’s the first ever to give you an idea of the beginning, in 1983 you discovered Anti-phospholipid Syndrome which was later renamed in your honour as Hughes Syndrome, we have done a little video on that, you can see it on the website. You received the World Rheumatology (ILAR) Research Prize for the description of Hughes Syndrome, you’re a member of the American Lupus “Hall of Fame”, a Doctor Honoris Causa at the Universities of Marseille and Barcelona, a Master of the American College of Rheumatology and Founder and Editor of the International Journal Lupus and as you and I both know there’s a lot of other things that could be on that list but we’d be here for a long time and I think it shows a very impressive mountain. It’s a huge honour, as you’d expect we have had a lot of questions sent in and we’re going to be monitoring those coming in. We’ve had a lot sent in earlier we’ll start with some of those and then bring in some of the ones so if you’ve got any questions just post them into the comments. I need to do a disclaimer here so to everyone watching obviously this is not a clinic, no personal advice can be given and everyone needs obviously to speak to their specific doctor about anything that they think is of interest that could be useful to them and the aim here is to provide you with the information, help you with that conversation and obviously no one’s being seen in person, it can’t be an individual clinic and so no full medical advice. With the questions we got there was some overlap as you’d expect, so what we’ve tried to do is consolidate those, so if your specific question isn’t read out hopefully one similar is, we’ll try and name check where there’s no personal information so if it’s a question about the charity, if you’ve posted a question which has medical information in it which are obviously a lot we won’t be name-checking, even if you publicly posted in Facebook we just we’re going to err on the side of caution there and not mention any names and even if we do it for the charity questions it’s only a first name, but uh where there’s medical information we’re not. In terms of questions we do plan to do more of these and Graham will no doubt confirm that we are keen to do more, so if your question isn’t answered this time then don’t worry, do ask it again and it may also be that we’re looking at some information to make sure that we’ve got it completely but submit again. Amongst the questions we also got some lovely comments I wanted to say one of many, Franky: ‘Thank you so much for the information, I really look forward to hearing Dr Hughes speak on the 29th, he diagnosed me at the St Thomas Lupus clinic’ – again that’s one of the things not on the list of things you also set up the Lupus clinic – ‘many years ago now and it had a profoundly positive impact on my life and I found him to be a lovely man and I’m just saying thank you and I thought that that person spoke for a lot of people saying how important the diagnosis is, how important your discovery has been to many people, obviously allows that diagnosis to even happen in this case you personally gave it but also that you’re just such a nice guy.
Graham: Thank you
Henry: Well look I think these are people have obviously been profoundly impacted. Right I thought we’d start with some very general questions, so we’ve got some questions just about the charity and I know we’ve spoken a bit about it in the past, we had a question from Sarah on Facebook. Now we’ve had this clarified before so just for everyone is it G-hick or GHIC?
Henry: That’s cleared that one up for anyone, but GHIC has set out to undertake research. What are the areas you’re particularly keen to research?
Graham: The first thing is information it’s still under recognised by many, especially when you’re first diagnosed you need help and one of the first rules of our charity would be to increase knowledge in terms of the research that can be helped by specialist units. And in the UK for instance there are now specialist units in most major hospitals, my own particular interest over the years has been with the brain and in pregnancy, and the pregnancy clinic in Lupus was one of the things we started back in Hammersmith days, and the brain is interesting because so many patients during the course of Lupus get ‘brain problems’, and we still don’t know why in some cases that’s the case and that’s been a central part of my own investigations, so particularly focus on the impact on the brain and on pregnancy.
Henry: Yeah and I think we’re going to have some questions on it but I think also part of your focus is trying to get more awareness around the impacts on pregnancy so that tests happen earlier. Another general question and then we’re going to go into some more, the next section is going to be on COVID which is obviously this big discussion at the moment. I would like to know what you think could be done to raise awareness of APS and what could be done to change the current guidelines of three miscarriages before testing commences on the NHS.
Graham: Yeah well it’s a hobbyhorse of mine, one of the things we learned rapidly about the Antiphospholipid Syndrome was that it can affect the placenta in the pregnancy and the baby doesn’t get enough oxygen and the patient miscarriages, and it’s now known to be the commonest treatable cause of recurrent miscarriage. So it’s been a major impact on the world of obstetrics, but there are other causes of miscarriage and the problem has been one of cost, I think that it’s been thought that you need only to start doing tests for Hughes Syndrome after three miscarriages and that’s terrible in a way, who would want to go on for three miscarriages. What I’ve tried to recommend is a simple questionnaire, three questions and that’s on the booking in clinic of any woman for pregnancy by the midwife or the doctor. Number one is ‘are you a migraine sufferer’ number two is ‘have you ever had a miscarriage’ and the third is ‘do you have a family history’ and by that I mean is there anyone in your family, particularly female, who’s got an autoimmune disease, thyroid, MS, Lupus for instance. I think if you ask those three questions we will find that you’ll have patients who are more at risk and should be tested after say one or even two miscarriages.
Henry: Talking to that point on awareness one of the issues is the awareness both within the medical community but also the wider population, so there are people having miscarriages who don’t know that this test is available and this could be the cause of them. As Graham has said that this is an important thing for the charity and something that is a very strong focus and to go back to Sarah’s question, one of the things that the research piece was discovering was the most prevalent cause of recurrent miscarriages and these are the kinds of pieces of research that are very impactful and need to be done. So we’re going to do some questions on COVID now, we’ve had quite a few people asking, with COVID one of the symptoms has been clotting for people who have it in severe form, so the question was ‘I’d like to know what Professor Hughes thinks about the possible link between COVID and Hughes Syndrome, many people seem to test positive for Hughes when they are very ill with COVID’ – and I don’t know if that statement is true – ‘could COVID be triggering Hughes in people who are susceptible?’
Graham: We don’t know the answer to that, it’s amazing despite the thousands of people with COVID and some things are definite that there’s a danger of clotting if you get COVID and most major units, I’ve checked this out with all my colleagues dealing with COVID wards do have the patients on anticoagulants for instance heparin to protect against this clotting. Whether this is through Hughes Syndrome or not, you won’t believe this but it’s not yet known whether there’s a link, we’ve known for many years that some viral infections can give you a transient positive test for your syndrome and then that becomes negative and it may be something like that’s happening with COVID, it’s had a number of effects. The good news is that a number of papers are now coming into the Lupus Journal from research centers and if you have Lupus not Health Syndrome but Lupus specifically you’re not at increased risk from major problems. With COVID it seems that they do quite well which raises the possibility that the Lupus patients who are on treatment such as plaquenil or that’s chloroquine do better because it has an antiviral effect, but I think that’s probably not quite straightforward, it’s more complicated than that.
Henry: So I think that’s a very important point that you’ve made and so at the moment the research is suggesting that there’s no worse outcome for people with Hughes Syndrome and having COVID and but the research is going on and having spoken to some of the other trustees I know that they are actively researching as as we speak and I know that they’re submitting papers to the Lupus Journal. For those who don’t know the Lupus Journal is a very esteemed publication that breaks the latest research regarding Lupus and Hughes Syndrome and obviously many other things. But it is very important, it’s the way information gets distributed amongst the medical community and to be published.
Graham: Yes we’re seeing a run of shortish papers at the moment but obviously big studies will take many more weeks.
Henry: Yeah and I think that’s interesting it’s weeks not months or years which is the norm study length
Graham: Yeah because the numbers are so big you can do this sort of study
Henry: And so important. So some answers to the question but some we’re still waiting to learn. Another question from Facebook: ‘How can we be sure that the COVID vaccine will be safe for Hughes patients?
Graham: All the tests for a vaccine go through a very strenuous safety thing, obviously the first part is the most dangerous when you have to have volunteers to accept it to make sure that there’s no very bizarre unexpected problems and most of the big studies have long since done that, so we know that there’s been nothing unexpected so far. Then you go for the numbers business and you have to do large numbers depending on what the statisticians tell you, comparing normals and those with other illnesses and so on. And so this methodology has been used for generations really for other vaccines.
Henry: So for instance the flu vaccine and other vaccines, because the vaccine on its own is not not new science, is it normally recommended that people with Hughes have vaccines or avoid vaccines?
Graham: Yes in terms of Hughes most patients have no problem with for instance the common flu vaccine. There was a worry in Lupus patients who tend to be allergic, in many ways many Lupus patients have a number of allergies that maybe vaccinations should be thought twice and I know a number of my patients have elected those who don’t have chest problems for instance elected to go without, but most of the evidence shows that the vaccine is not a problem in the Lupus or Hughes Syndrome.
Henry: And one of the things I think that if you are in relatively good health and feel up to it, you can sign up to trials, so if you go to the website you’ll find that there are places to sign up for coronavirus trials, and actually it’s very important that Hughes patients do that because that population needs to be tested so that we know.
Graham: Absolutely, especially in view of the clotting that we’ve seen with a number of patients.
Henry: And we as a charity will post a link to those and what will happen is you’re putting your name forward, it doesn’t mean you’re necessarily going to be part of the trial, they then evaluate you specifically as to whether or not it’s safe for you to do it but putting your name in the hat is a great idea and certainly something that’s recommended. Right so we’re going to now go into the more specific questions specifically around Hughes Syndrome, we’ve obviously had a lot, some have been quite specific with multiple particular things. What we’ve tried to do is consolidate onto whether the central question is the same without going to people’s specific results so that we could have something that’s more relevant for the wider group. Right so: ‘I have primary APS’ – if we stop the question there, what do they mean by primary APS?
Graham: Historically we first discovered the syndrome in a Lupus clinic. About one in five Lupus patients have positive Hughes antibodies and it became a fashion to call those cases secondary, in other words secondary to another disease like Lupus, but after a while it became clear that “primary Hughes Syndrome” is by far the commonest. In fact it’s probably quite a common disease and my own suspicion and I stick by this is that it will ultimately become more common than Lupus because of recognition.
Henry: How common is Lupus?
Graham: There are big differences for instance Lupus in younger age group or female, 9 to 1 female, Hughes Syndrome is another autoimmune disease and all autoimmune diseases are commoner in women than in men. So the patients with primary Hughes Syndrome to answer your question have got the sticky blood, have got the clots, they’ve got the migraine, may have had a thrombosis. Most of our patients are tested for Lupus and they will be negative for Lupus tests and on the whole, more than on the whole, those patients do not develop Lupus at a later date which is important to know.
Henry: Okay now moving on with that question, ‘I have primary APS with mostly arterial clotting, even clotting whilst on blood thinning injections and aspirin, what other options are there?’ and we had a similar question, ‘I am positive APS with no other health issues, my question is warfarin the only medication I should be taking for APS? My primary doctor has mentioned other medication but I’m very nervous again’.
Graham: I understand that the the treatment so far has been almost 100% of anticoagulants starting with aspirin of course but moving through to heparin and then warfarin which is the thing that’s hated by so many people.
Henry: So it’s an escalating scale?
Graham: Yes and it depends on the severity of the patient. So if a patient’s symptoms are, maybe going on a long haul flight and maybe getting a mild thrombosis, that patient may be on flame warfarin for six months and then stopped but you mentioned arteries – and this is one of the big things about Hughes Syndrome, it can affect veins and arteries which includes of course the strokes and heart attacks and in those patients obviously your tendency is to go for warfarin. Now warfarin actually in one way is a very very good medicine and its problems are many and that it interacts with foods and drink and so on, so patient has to have self-testing or testing under the anti-coagulant clinic which is a pain in the neck. But one of the commonest answers to that patient’s query is that when you look at her warfarin little booklet that she gets, she’s not getting enough, the dose is under treated and that’s the first thing, a doctor has got to be very astute to follow the patient’s INR which is international ratio of how thin the blood is compared with normal blood. So many patients run along for instance at 2 and many of those patients should be near a 3, it’s a matter of how dilute you can make the blood.
Henry: So what is the standard?
Graham: A little old lady with a heart murmur will be on 2, in other words it’s going to be twice as thin as normal blood. In our syndrome many of the patients need to be above 3, the blood has to be kept much thinner. It saves you from strokes, it saves you from heart attacks and it’s absolutely vital in those extreme patients to get it right.
Henry: And what is the downside?
Graham: If you have an accident and so on you bleed more, but all those drugs are the same, take baby aspirin: if you take one a day, which many patients do, you bleed slightly more and men they shave, they cut themselves they do bleed a little bit more, but it’s not as common and as big a problem as people imagine, anticoagulation. Hundreds of our patients are leading normal lives on warfarin. Are there any new treatments? There are, but at the moment a little bit disappointing, there are a number of new oral anticoagulants tablets, in other words that work in a different way. Great excitement several years ago when they came in but slightly disappointing in some patients it doesn’t seem to control the clotting as well. So although many of our patients especially teenagers who don’t like the idea of warfarin are on these but for the worst cases where there’s big clots and major illness I think you know they’re not quite as effective.
Henry: And why do people choose to go on the alternatives?
Graham: Warfarin’s got such a bad name it’s very sad, warfarin is called ‘rat poison’ of course because we give it in mega doses to rats, they bleed and the media love that. It’s a fabulous drug when it works because that patient, endless headaches, falling around, having seizures, all gone once the level of anticoagulation is right. So we have got an effective treatment but it’s such an interactive disease, if you eat a lot of greens it pushes up the level of its toxicity or blood thinning and so patients are given these large booklets on what to eat and what not to eat. So it’s difficult, it’s very complex and for instance with your average bloke you know who drinks a few beers at the weekend and doesn’t in the week, that fluctuation is really a nuisance when you’re on warfarin. So it’s a drug where you have to be fairly precise and serious about treating it right.
Henry: I think that’s very good now I said I tried to bring some things together so this was a follow-up: ‘I’d like to ask whether there is a more known about other blood thinners that can be used instead of phenprocoumon, this is because I now have lifelong blood thinners and I’m triple positive then the thrombosis service is unnecessary’.
Graham: Triple positive is a cliche, it’s when there are three tests for sticky blood, they all come under the bracket of APL, apple as I call it, but API is anti-phospholipid that’s the blood test and there are three ways of looking for that in most laboratories.
Henry: And so triple positive is all three tests, it doesn’t make any difference, you have this you don’t have it three times?
Graham: Yes, it’s partly true that if you are positive for all three you’re more likely to get clots, so that cliche has stuck rather through the triple positivity, my own feeling is that any positive is probably worth watching like a hawk.
Henry: So if someone’s triple positive you do think they need more attention?
Henry: So what’s phenprocoumon?
Graham: It’s one of the new anticoagulants, the coagulation the clotting profile is complicated we all had to learn it in med school and I hated it, I really didn’t understand I think I missed the lecture on clotting proteins because there are factors, one through ten etc.
Henry: I think we’re way past lectures for you and there are many things you probably know about
Graham: These new drugs that many people know well, the people who know about the cascade as it’s called the clotting, the drug firms have gone for some of those steps and able to block them out so the whole family of drugs, anti-factor this anti-factor that, you know are coming through variable results I mentioned a little bit earlier. And so this lady is on one of them and I presume is reasonably happy and stable so that’s fine, it’s just the worst ones where there have been major things like strokes, there have been a few cases where on one of the new ones they’ve got another stroke. So that’s very worrying.
Henry: And she says ‘thrombosis service is unnecessary’, what do they mean by that?
Graham: I don’t know what her meaning is, oh I think I do know, when you’re on warfarin there is a specific blood test, it’s called the INR that tells you how thick or thin the blood is, and it’s fabulous because then you can really control things over that patient. The new ones don’t have that test.
Henry: Also hold that thought because the next follow-up question is exactly about that so this is a different person’s question we’ve bundled together: ‘I have been told to take warfarin for life but it is never in range and has to be tested every week. Are there any other options?’
Graham: And the answer is yes, it’s a little bit difficult to answer specifically because we don’t know what the patient’s history was for instance did you have a new number of strokes or major heart attacks or other big arterial things, but yes someone who like that is very very sick will be on warfarin and at the moment you say for life until something new comes along.
Henry: I think that’s a very good point, potentially it’s just the best right now, new things come along. Great so at the moment other options are coming.
Graham: One thing I should say is a number of our patients they go to the anticoagulant, every hospital in the country has an anti-coagulant clinic, and they go there and they have a sample of blood and a nurse takes it and they get a result on a printout and it’s say 2.1 today it’s 2.4 in another day and fluctuates. One of the things that my patients have found if they can afford to buy one is a self-testing kit and that’s absolutely fabulous as far as I can see. It is costly it’s a few hundred pounds but it means you’re your own boss, you get a headache or you start feeling dizzy or your memory starts going quickly, immediate finger prick shows you your blood tests, for some reason the warfarin control has slipped and you can monitor this. Now many anticoagulant clinics are not keen on that, they think the patient shouldn’t have control of their own INR but I disagree, I think if the patients on the clinic get together on this it can be very helpful.
Henry: And you did earlier you mentioned the anticoagulant clinics which we’re just talking about can be a pain in the neck?
Graham: Some are super
Henry: All the ones you’ve been involved with
Graham: I haven’t, only peripherally but they’re now more smooth but in the old days, not so old days actually patients would queue up go along there, you wouldn’t hear the results till the next day and those cases were just inexcusable in a way and that’s all been improved. I lecture once a year to the nursing society related to clotting and you can tell by the feedback that they’re very much onside with this one.
Henry: And the importance for getting the results on the day just for clarity and importance of getting the result quickly, what does that do for the patient?
Graham: You can alter it, you can also buy one little milligram tablet the warfarin for instance if you’re on the low side
Henry: And do you take that immediately?
Graham: Immediately yes and in fact again it sounds fussy but you know the patient’s health is at risk, the patients who’ve done it just totally rely on it.
Henry: Who have their one at home?
Graham: Their one at home, they do it in collaboration with the anticoagulant clinics just to make sure that there’s no wide differences
Henry: Now you also in the last answer mentioned memory which goes for the next question, so ‘Can APS be the cause of memory problems if an MRI is clear?’
Graham: Yes yes yes and that’s such an important question because the MRI is wonderful it’s changed our lives but yes we see patients with sometimes quite marked memory problems who have a normal MRI, why I don’t yet know it may be a matter of degree. So we’re waiting for some more sophisticated neurological screens, they’re coming along. I should say I think that memory loss is next to headache as a commonest feature of Hughes Syndrome and it can be very mild but it can be so severe that the patient thinks she’s developing Alzheimer’s and it’s very interesting when you start listening to the patient telling you about their history. For instance at the end you say what about memory and it all comes pouring out and one patient I would quote who couldn’t remember which exit of the roundabout to take when she was taking her children to school or I’m the joke of the family I can’t remember names, or it’s very severe sometimes and untreated it can be really incurable but luckily it’s very interesting we think it’s due to sludging of the blood because the minute you give a blood thinner, and heparin is the one that I haven’t mentioned yet but it’s the fastest, it’s given when someone gets a clot, memory gets better and for a while about 10 years ago at St Thomas’s we had a young neuropsychiatric registrar working in our unit from the psychiatry department and we treated patients with memory problems in Hughes Syndrome with heparin for two weeks to see what happened and this girl couldn’t find words on a word-finding scale, she was down in the 20 range. Two weeks later 80 to 90% and our professor of psychiatry said no psychiatric drug gets near that sort of figure, so memory if you go into it is is commonly affected.
Henry: You mentioned earlier also that when people are being able to see their own blood levels but also one of the things that might trigger them to go and check them is their memory
Graham: Yes they say the cloud has come down that’s the commonest thing of it but it’s a real phenomenon, some people won’t talk about it but it mostly comes out
Henry: And how does that impact with age? So as we age our memory becomes less able as well
Graham: We haven’t done specific data on that but I’m sure that’s going to be a factor but all ages get Hughes Syndrome and that can be a feature
Henry: I was thinking about that if you have less memory capacity then you notice the erosion much more
Graham: I’m sure that’s true actually, the memory is something that really is major I mean I’ve often said that the brain is the most sensitive organ to sticky blood and what’s interesting is in some patients you do see changes on the MRI with little dots and they improve on anticoagulation suggesting that it’s not a permanent stroke but it’s just a defect in blood supply to the brain locally.
Henry: Looking back to the question, you pointed out earlier you talked about clotting in the veins and the arteries. In their question they mentioned that they get clotting in their arteries, what is the the difference between the two both in the impact on the individual and the treatment plan?
Graham: Yes they’re totally different, veins commonly a DVT or a leg vein with swelling and things that’s perhaps one of the commonest or in the arm and they’re not as life-threatening usually, although for instance you can get lung spread, what’s called a pulmonary embolism and that can be a presentation. Now the arteries a different kettle of fish entirely, you can lose a leg in severe cases or get a heart attack which is artery or have a stroke which is artery as well usually. So it just raises the worry and the danger of not treating. The statistics show that triple positivity etc, high levels of antibody, are the strongest link to artery disease but we’ve seen patients with very minor changes on the tests who still had major artery problems.
Henry: So moving on to a different topic area, so the two areas you’re particularly passionate about the brain, we’ve just been talking about memory, and pregnancy and we have some particular questions around menstruation. ‘I would like to ask about Hughes Syndrome during menstruation, I rarely have had periods especially before diagnosis yet I’ve only ever had some kind of regular periods on warfarin and no contraception. Is there a link?’
Graham: Yes all aspects of pregnancy seem to be possible in Hughes Syndrome, the commonest of course is three months of miscarriage, an early miscarriage repeatedly common and the other ones are the end of pregnancy, tragically late pregnancy loss and I remember The Times had an article saying that that’s the greatest tragedy known to man, to lose a pregnancy at eight months especially if you’ve had two early pregnancy losses before the third. And this one’s much more ill understood and that is infertility, the patient gets married they try for pregnancy for one to two years, nothing happens and that can be a feature of Hughes Syndrome and a lot of clinics are now studying this to see whether if one of those patients is positive for the tests, whether for instance heparin would help the results, and that’s undergoing research now. Now as far as menstruation is concerned, yes a lot of patients do complain of menstrual abnormalities which of course have different causes, one is pituitary and so on but all those local defects if the patient’s on a drug like warfarin. Of course menstruation can be heavier but normally it’s not a thing that needs to stop the warfarin.
Henry: That beautifully segues into the next question which was related: ‘I have very heavy menstrual bleeds, is there a way to reduce it without increasing the dosage of blood thinner?’
Graham: Yes there is, there are medicines, there are hormone based medicines now that are used for people with very heavy menstruation as part of gynaecology and it’s well recognised so don’t put up with that totally. It may well be something that can be treatable in a different way from dealing with the anticoagulant.
Henry: Right onto a new topic area, one that’s just going to test my elocution: ‘I have APS, Raynaud’s, Dupuytren’s contracture and recently AF and I’m now being investigated for MS and I have peripheral neuropathy. I’ve mentioned to the neurologist that APS can mimic MS but he doesn’t think so. Can APS mimic MS?’
Graham: For sure, we published a number of papers and others have published big papers looking at MS especially atypical MS where the features aren’t quite right, be suspicious of anti-phospholipid syndrome there, it can totally mimic MS. One of my patients years ago, she actually started her charity to raise awareness back 20 years ago, was in a wheelchair because of paralysis in the lower limbs she didn’t have MS she had Hughes Syndrome and luckily she had a clot I think in her leg but was treated with anticoagulants and she’s out of the wheelchair and walking normally now simply because the blood flow had been insufficient relief. Now the the neurology of Hughes Syndrome can be anything, patients can get nerves being hit so it’s a neuropathy or they can get paralysis where it affects the spine. So there are different types. I think the antiphospholipid syndrome is a major neurological illness and it deserves chapters in textbooks I really do, it’s so common.
Henry: You mentioned earlier that you thought that over time it would be considered to be many more people have it and that is because you think that there are people right now who are misdiagnosed
Graham: I do we see this you just don’t know how many are out there. Recently I’ve been talking about the one in five story, although there’s quite a lot of literature now it’s becoming well known in research circles, the literature suggests that Hughes Syndrome is responsible for one in five cases of recurrent miscarriage, one in five cases of DVT or deep vein thrombosis, one in five cases of young strokes under 40. Now if you look at young stroke, people getting a stroke, here’s a treatable cause, a preventable cause, and some odd ones; epilepsy in teenagers it’s a common cause, one in five. So if the various specialists dealing with those things start picking it up and referring it much more we’re going to see the numbers increasing rapidly.
Henry: We’ve had a question saying ‘I have lupus and APS. The lupus has been reset’. He has or she has another further question but I wanted to stop, what does that mean by reset?
Graham: I’m not sure I suspect it’s going more into remission, Lupus is an extremely fluctuating disease and when you’re 20 it can be horrific, normally when you’re 40, 45 the disease does settle down more, in fact you can get off all drugs.
Henry: Okay they went on to say ‘It’s now manageable after a stem cell transplant’.
Graham: Okay now we’re getting an answer
Henry: Could you tell us a bit about the stem cell transfer?
Graham: Yes I mean a stem cell is an extreme form of treatment as you can imagine and stem cell is where you take some marrow from someone else, it’s on the basis of an autoimmune disease, cells that have come from the marrow are not doing their job properly and the result is its autoimmunity stems from that problem. Stem cell treatment has been used now as you know for many years for patients with some horrible rare diseases where stem cells have proved successful, so of course it’s been tried in Lupus and not many in my lifetime, we have two or three cases so it’s not widely done, this is a particularly special one I think.
Henry: The explanation might be ‘I’ve had two extensive DVT’s in 2018 which damaged the valves in my veins’. So the question was ‘is it possible to repair the valves and does having APS then make it harder to repair them?’
Graham: You can repair the valves it’s not much better than it used to be the vowels operations for varicose veins were pretty hit and miss in some cases but I think that the whole subject has gotten much more successful. It’s not my subject the surgery of vowels in the leg but that’s something that’s quite possible and the anticoagulation can go with it, you get careful around the time of surgery etc but it’s quite possible.
Henry: Very very interesting and we had an interdispersing with some nice messages so: ‘Professor Hughes I met you in London along with my mother many years ago and mentioned a chronic back problem that was only after walking for five minutes and you told me to try aspirin and after three weeks I noticed an improvement and after four weeks that excruciating pain was gone and has never returned. I’m only on 150 milligrams aspirin and wondered if you would recommend more aggressive anticoagulation?’
Graham: No I wouldn’t, I remember this patient actually. It’s quite interesting we’ve had a few patients that have had backache, commonest disease of mankind maybe, and they’ve had some nerve irritation and when the diagnosis of Hughes Syndrome for any other reason has been made and aspirin started the back pain has gone away, and it’s probably because ischemia has just been the tipping point of the back pain to the nerves and giving an aspirin makes the platelets flow better. But it’s a very clear thing that we’ve seen in a few patients.
Henry: You said ischemia what is that?
Graham: Ischemia is lack of blood, lack of oxygen
Henry: So what you’re saying is it was just enough to tip it and then had enough oxygen. I’m trying to bring in some of the questions that we’ve had come in. You’re having a lot of ex patients drop nice things, someone said they travelled from abroad and you helped set their INR and it massively massively helped them. ‘I saw Professor Hughes a few years ago, I had a brilliantly insightful GP who just thought it was worth doing a few tests. My 17 year old daughter has had a positive test for APS when she was eight but the subsequent test at 10 was negative. Should I have her retested now post puberty?’
Graham: It’s a good question, puberty seems to be the time when the troubles begin. In some cases obviously a hormonal effect so when you ask a patient when did you first get symptoms, well I was about 14 I had glandular fever and different aches and pains and in retrospect that’s when things probably started. So then I’ve forgotten the second part of the question actually.
Henry: Should she be re-tested?
Graham: Not if she’s well and totally asymptomatic, watch for headaches that’s a common problem but otherwise I don’t think specifically. Anything that worries you about it yes be a nuisance have her tested.
Henry: And APS, there is a genetic component?
Graham: There is a genetic component and it’s an autoimmune disease, it’s basis is that the immune system messes up the clotting problem and it’s one of the first questions the doctor should ask, ‘do you have anyone in the family, female, with either Lupus, MS, thyrothyroid comes up a lot, in your family’ and it helps you make a diagnosis. So any patient of mine who says I’m worried about my daughter, test.
Henry: All right and why would it go from positive to negative?
Graham: Yeah that happens, I mentioned earlier that some virus illnesses give you a temporary positive actually and normally thank goodness not associated with clotting, it seems to go away and maybe that’s what happened there but it’s negative and that’s important.
Henry: And in terms of testing on it, can you have a lot of false positives, so is there a big downside in this case to having a test just to know?
Graham: The answer is there’s no big downside no, we always worry about this that the ‘worried well’ need to test and of course it asks the questions over the last 30 years ‘what happens to those people?’ and people are looking over 30 years now to see if they’re correct to be worried about it. But luckily it hasn’t been a major issue.
Henry: And do you know what’s the probability that if the mother has this the daughter has it?
Graham: I can’t give you the figure off hand but it’s small, I mean you’re talking about maybe twice as the background
Henry: And the background is roughly?
Graham: It’s varying from figuring to figure now I’ll have to come back to you on that because they’ve updated figures and background figures slowly increase as you recognise more people.
Henry: That’s the sign of a true professional, when they know the answers changing that they come back and actually you think it’s a simple question what’s the background level of the disease, it is not a simple question.
Graham: It’s not a simple question, take a migraine clinic, test a hundred of those women with migraine and you will find a percentage of positive sticky blood, we don’t know that figure, there’s no data yet, there’s lots of research crying out to be done out there
Henry: Very important so for those people who could then have proper diagnosis we can help them. Right moving on to some more specific questions then we’ll bring in some more that have been posted right now. This one was picked because it’s so complicated and asks a lot of questions: ‘I’d like to know the possibility of my my definite SS/anti-Ro positive turning to Lupus. I’ve been so ill for months now, however my anti-Ro has vanished on a test here and information markers weren’t up. I take ibuprofen daily and turmeric too which have affected it’. I have definite SS?
Graham: Well there’s two things that could be sjogren’s syndrome or scleroderma, difficult. SS in my book mostly sjogren’s syndrome which is a cousin of Lupus if you like a milder cousin that doesn’t usually affect the kidney.
Henry: And anti-Ro positive?
Graham: Anti-Ro positive, I’m just trying to think of the dates, 1960s there’s a lot of research on the blood tests in Lupus and you look down the microscope you see different patterns and some of these were a waste of time some of these were extremely important. And this one called Anti-Ro is very important because it goes with a few things, sensitivity to drugs, quite a few important things not least when you’re pregnant there’s a very small chance of a baby having heart block and as you probably know about a slow pulse that these things have got silly names, Auntie Ro, do you know why they got those names? They were named after patients and there’s one called anti-sm for a patient called Smith, that’s the way science worked but those two have stuck. I haven’t answered that question fully have I, altering the sjogren’s, yeah it can go away the antibody, often they’re long lasting actually. The good news is that if you have that anti-Ro positivity, on the whole you have a better prognosis.
Henry: Okay I think there’s some interesting learnings there, I think that particular person is quite complex and requires a specific consultant. Someone talks about having angina attacks and they said: ‘I’m having angina attacks, I don’t have any other angina symptoms, I even went to A&E thinking it was a heart attack which has been a pretty frightening time, but fortunately came back okay. I have APS, Lupus, I’m on 80 milligrams of Clexane twice daily, have not had rituximab infusion for nearly a year. Could there be any links for me and angina?
Graham: The answer is yes, angina is pain in the chest when the heart is unhappy, it’s not getting enough blood flow and it’s something we see commonly Hughes Syndrome. The cardiologists are now picking up on this and it means that this lady, she sounds like she’s been diagnosed with Hughes Syndrome but needs a little bit of change in treatment monitoring. I am absolutely sure that angina is associated and she could be very much better if they got that right.
Henry: Okay that’s important. We had a more a broader question but it started with something very important it said: ‘I’ve been told I have APS due to tests following recurrent miscarriages but have successfully had a family since’. Which happened obviously because there was treatment available due to your work and I wanted to mention that because I think it’s important to focus on. And she went on to say ‘I’m not aware of any other ways in which APS has affected my health but is there anything I should be aware of for my own health for the future?’ Now I thought that was a very important question, thinking about as life moves on what she needs to think about. She is in her early 40s, no particular health concerns apart from – and she said it’s another indicator – apart from regular monthly migraines.
Graham: Oh well that that fits with the background. I mean we see a lot of patients who’ve been through pregnancy, had miscarriages, had treatment, a successful baby delivered in the end and then discharged and not seen again for 20 years. On the whole we see a lot of patients like that who’ve been through problems in pregnancy, treated, discharged and not seen, and it’s a worry because that patient could still get a clot in the future day. Now the migraines, is she on aspirin would be my first question and if she was my patient or my family she would be on baby aspirin and she would find that the frequency of the headaches would be decreased and that might be all she needs at the moment.
Henry: I think that’s obviously some very useful advice, ongoing is there anything that she should be looking out for in her own health that will help her?
Graham: Well some of the things the patient can see or feel is memory, inappropriately bad balance, dodgy, headaches increasing in frequency, those three. And look at the peripheral circuit, look at your hands, do you get cold circulation that’s another feature. From the history that she talks about I don’t think she needs any more aggressive treatment simply to monitor and try aspirin.
Henry: That’s that’s very interesting and so I think what you’re saying is that she should keep an eye on the other symptoms, be aware of them to see are there any changes happening and in terms of aging with APS is there anything that’s likely to happen?
Graham: No not likely but higher risk.
Henry: What for example?
Graham: Well still people talk about the strength of the positive tests, if they’re very strongly positive you’d watch the patient more closely, more frequently.
Henry: So there’s nothing particularly happening so you’re not going to…
Graham: Drop dead, you’re not. It’s difficult to balance isn’t it actually but that patient’s very definitely got the disease, she’s at increased risk for a clot of some sort and if anything changes I think get yourself seen.
Henry: So I think your main focus is keep an eye on it because what you want to do is make sure that you don’t put yourself at risk of a clot. Actually as people age strokes do become more common so is that something that APS people need to be thinking about?
Graham: Definitely, the whole syndrome can change and the government have had a scheme for early diagnosis of stroke but it didn’t include testing for APL antibodies so that’s one thing for the future.
Henry: Especially when you’re saying that with thrombosis one in five young people under 40, I think it’s very obviously very important. So some questions from online, can you ever get rid of APS?
Graham: Yes it seems to go away in some patients and the antibodies become negative, the patient feels well and as far as you can make out you have got rid of it. I think it’s slightly worrying, as a doctor that you’d rather not get rid of it you’d rather see the patient on a regular basis twice a year whatever to say that you maintain that management.
Henry: Now Graham’s been doing a very good job of keeping talking while I’ve been looking at my screen to make sure that I’ve got you got the questions that have come in so you’ve been you’ve been doing that very well. So I’ve collected them together, now see someone asked about extremely low folic acid levels, is that common with APS?
Graham: No it’s not, it’s a feature that we see in a rheumatology and and in our hematology clinics, it’s not specifically a feature of APS though.
Henry: So we had a question: ‘Is it now your view that APS patients no longer benefit from therapeutic coagulation, from anticoagulants, who have never experienced a clot yet display and experience all the other symptoms?’
Graham: What you mean with with positive tests as well?
Henry: Yes there’s an assumption that’s positive
Graham: Yes I mean that patient is suffering from the disease and I think that the treatment depends on the severity of the symptoms.
Henry: What does therapeutic coagulation mean?
Graham: It just means something to make the blood treatment, therapeutic treatment and coagulation is clotting, so something to make the clotting less vicious or less positive, less risk.
Henry: Right and I think you’ve spoken to that even if someone’s not experienced a clot, I think we actually just had a question when we were talking about it even if someone’s not actually experienced a clot, I think you were just talking about baby aspirin in that case, would you think that’s something worth considering because of the risk of a stroke and that very dramatic impact.
Graham: Yes I would
Henry: Also we’ve had a few more a few more questions that have come in and I think we’ve had someone asking about it, if there is another option instead of warfarin for someone who’s APS positive and has Lupus anticoagulant
Graham: Yes that’s another way of testing for the same antibody, it’s a silly name actually it frightens people because they think they’ve got Lupus and it was a historic name for in the old days they thought it was to do with Lupus, but Lupus anticoagulant has more to do with sticky blood, so one of the confusions.
Henry: So is there another anticoagulant?
Graham: I think we did cover that actually yes, in a way we’re limited at the moment aren’t we
Henry: This is an interesting one; ‘I’ve been diagnosed with APS’ -and I think this is gonna be our last question I’ve got a couple of other things that people sent in – ‘I’ve had 18 DVT’s now, sometimes tested negative and sometimes positive for Lupus. I have fibromyalgia and some other health problems, I’ve been on fragmin for 10 years and I can’t tolerate warfarin. Is there anything different I should do for being tested positive for Lupus?
Graham: From the DVT’s point of view, awful history isn’t it. I mean normally of course she’d be on warfarin for life you know because so many DVT’s but if she says she can’t tolerate it I don’t know quite what the reasons are that she can’t tolerate but there are, as we discussed earlier on, new anticoagulants. Maybe they’re less than perfect in a serious disease like major strokes but it may be a thing to look at in this lady if she cannot tolerate the warfarin.
Henry: And she mentioned fibromyalgia, actually we’ve had another question mentioning that as well, can there be a link?
Graham: Yes, fibromyalgia is a symptom basically it’s aches and pains and shoulders you know, I don’t like the label because it doesn’t help you, the diagnosis it just means in plain English you’ve got aches and pains and a lot of our Lupus patients go through a history of fibromyalgia before they’re diagnosed and treated with quinine for instance. So I’m not surprised I hear fibromyalgia mentioned three or four times in every clinic, not to dismiss it because it could be a feature presenting sign of a rheumatic disease.
Henry: We’ve very generously been given about an hour, we obviously overrun because you’re very generous and keep answering questions which is extremely kind of you. So to anyone whose questions weren’t answered I think we will put another date in the diary
Graham: Definitely happy to do that
Henry: And so we’ll get to some more then but hopefully this has been a good start I hope that answers some of your questions. There’s a bit of a fan club so I want to just read a couple of the ones that have come in and this was regards from South America just saying thank you for your help to all the patients around the world and we have got people viewing from across the world so I’ve definitely seen South America I’ve seen North America and Europe as well so there’s a lot of people from around the world watching. And I thought this one just summed it up very much, the right tone to end on so this person just said ‘Thank you for your work doctor, I think your work has probably saved my life, absolutely much much appreciated’.
Graham: Thank you
Henry: So on that note I will say goodbye and thank you very much and until next time. Thank you everyone for watching, obviously GHIC is the Graham Hughes International Charity it is focused on Hughes Syndrome, APS, are looking to provide support, provide information, build awareness and fund research. If you’re so minded to obviously any donations or support or fundraising you feel able to do would be great and if you go to the website you’ll see resources to do. Thank you everyone for joining us, thank you again Graham for that pleasure and for answering some of your questions and for all your time. With that we’ll say goodbye and hope you’ll be able to join us next time!