Awaiting definitive diagnosis?

I'm new to this site and think its brilliant! I wonder if anyone else has been through a similar experience or can give advice? I am a former paramedic and clinical advisor who has suffered multiple lupus like symptoms and chronic pain syndrome since bilateral carpal tunnel surgery and one years stormy recovery period (including 6 months unknown virus) in 2005.

Diagnosed fibro, chronic pain syndrome. I was investigated for lupus in 2010 at st thomas' but told it was not lupus due to ana despite multiple lupus symptoms. I did have what I believe was an undocumented TIA approx 5 years ago while on hols in a remote part of Scotland, unable to get to hosp. In last 6 months I had two cardiac incidents, classic MI (heart attack) presentation, but ecg etc normal. Further investigations revealed old endocarditis, aortic valve regurgitation and soft plaque in LAD. Interestingly repeated bloods came back with APL, ACL and lupus anticoagulant. I just had my first appt with Prof Beverly Hunt at St Thom. She told me I was a classic candidate for Hughes syndrome and had lupus like symptoms (lots of Hughes symptoms including migraines and teenage growing pains). She was reluctant to give definitive diagnosis I believe due to the fact that I did not have a documented thrombosis, although had undocumented TIA and two cardiac events. She said the final indicator (APS or Lupus or both, not sure) would be if the Plaquenil she has prescribed works. She also mentioned putting me on anticoagulants. I don't understand how medication can form a diagnosis for APS. I feel left high and dry, sure I have Hughes at very least and I'm concerned if I have to go to hosp for anything in future a lack of diagnosis will cause probs. I will ask for a telephone consult to discuss further b4 I see her again in June. Wondering if I can get referred to Prof Hughes on the NHS for a 2nd opinion re APS if need be? Does anyone know if this is right? It doesn't seem right that I may have to wait till I have a clot to fit in with the Sydney criteria for diagnosis APS.

22 Replies

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  • Hi Sue and welcome to the site.

    First of all you have got one stage further than many by getting to St T and seeing an excellent Dr like Dr Hunt. Many of us were dismissed and go on to have clots before being dx.

    I had a PE and. Stroke before getting my dx of Hughes by Prof who incidentally has now left the NHS and can only be seen at London Bridge.

    I am seronegative of everything so for me it is very difficult even now after having Prof dx me, other Drs still are disbelieving.

    I think the reason that they want to wait before giving you a final dx is that after a trial of Heparin there is usually a good response to symptoms as in my case. That then usually proves the dx. So if you do well I'm sure you will find that your Gp will be told and your notes updated. I find now my dx is respected wherever I go especially at hospitals. I've only had one incident with another Consultant who challenged it.

    I hope that's helped and I'm sure others will also come along and offer support and reassurance too.

  • Hi and thanks for the reply. I do understand and have huge empathy for the many APS patients who only get dx after having had a thrombosis. I can only imagine how frustrating it must be for you to have other Drs who are disbelieving of your dx. My ST Tom cardiologist and neurologist both referred me to Prof Hunt after my blood results. My original appointment was for a member of her team so I rescheduled so I could see her directly and made sure reception knew I wanted to see her in person. I do wonder how much Prof Hunt is in agreement with Prof Hughes' knowledge and literature with regards to 'alternative diagnosis' of APS, which is why I wanted to hear others opinions and stories re this subject. Prof Hughes himself on his STTOM Hughes Syndrome website writes in length about alternative diagnosis and seems to be open and holistic with regards to diagnosing APS. I feel he is willing to go out on a limb - I could be wrong but feel that many other Consultants will not, including Prof Hunt. On Prof Hughes' private website (London Lupus Centre) it is mentioned that you can get a referral for a second opinion on the NHS with him, so I am wondering if anyone has experience of this. Handy to know should I need it. The updated criteria for diagnosing APS, the Sydney criteria (prev Sapporo) does not mention efficiacy of medication as an indicator for diagnosis. I find it very interesting that a good response to medication should come into it when some other 'diagnostic' symptoms can be overlooked. However, I am glad in your case that the meds did work and that you got dx'd, no matter how that happened. I guess I should be patient initially at least and see what progresses. I find it can be hard to stay positive all the time when you get one knock back after the other.

  • Hi, my diagnosis was made in Sydney and wasn't based in having a clot. I suffered all the usual symptoms as a child, migraines, weird painful nodules on my fingers, random flu symptoms etc. I was sent to a rheumatologist for the painful fingers & he apparently queried some type of lupus but didn't get to bottom of it, it wasnt until yrs later when symptoms caused probs during my pregnancy & by chance I was sent bak to same rheumatologist that I was given a diagnosis. Its a very long road & I think I was lucky that I had gone back to sydney when I was pregnant, I don't know how things would have worked out if I was living here at the time simply because I don't think I would have mentioned those ( what seem like random) symptoms & they wouldn't hav access to my childhood medical records. It's horrible u are having such a bad time & I can't advise u on uk drs but please be careful if flying back to Sydney, I always use clexane injections, drink lots of water & walk around every 2hrs.... Get an isle seat. Best wishes

  • Thanks Dani, glad you finally got dx'd. Thanks for your support and best wishes, Sue xx

  • My diagnosis despite having multiple clots my legs and some classic clinical lupus symptoms, ie repeated pericarditis since teenage years etc, still led to a very slow diagnosis for my five things, partly as I always seem to fail tests, however in my 40's now beginning to pass them. To have the diagnosis is half the battle, so many people have to have life threatening/changing incidents before diagnosis. Welcome and I hope you find this forum as supportive and informative as possible. Thanks for contributing your story. Mary F x

  • Thanks a lot Mary, its kinda comforting to know there are others out there who have shared the same frustrating journey and finally got somewhere...... not that I would wish that on anyone of course. It does make me feel less alone, especially when I feel like banging my head against a very hard wall:-). Im glad you understand my frustration and my wish to have a dx before something goes wrong, not after. :-/

  • Thats is ok.... and lots of 'aussies' on here, who will have some pointers for you in Oz. Best wishes Mary F x

  • Thanks, might be confusing with my name 'aussiesue' and my reference to the 'Sydney' diagnostic criteria for APS (which replaced the Sapporo criteria), but I am a Londoner now (born in Perth), been here for last 22years. Bloody glad of that as I am under STThomas which surely is the daddy of APS. :-)

  • oh... ok... yes Mrs Muddle and brain fog here etc etc! Glad you are under St T's. myself and 14 year old daughter for the same reasons as you! All the best. Mary F x

  • hehe, nice one Mary, know just how you feel :-)......just glad today is Sunday so I get another day's lie in.....oops, wait, no its not! :-)

  • (jolly good stuff re you and your daughter, as I'm sure you know, its one of the best teaching hospitals in London overall which means they get the creme de la creme of the medical staff....... I worked at Guys for a while and loved it)

  • I was seen by the same at St. Thomas's and after many TIAS all which I was convinced by my GP and the hospital were some kind of panic attacks!!! I knew they were not, I then had a brain scan which showed I had recently suffered a CVA stroke also. I first had a positive test for the Lupus Anticoagulant in 2006. Since then I have had all sorts of problems and Lupus like symptoms but I have been told I do not have Lupus the disease, I am convinced I have due to my medical history. I was hugely disappointed with my appointment I was told I have secondary APS with snedddons syndrome-muti cerebral Infarcts and widespread Livedo rash ( when I asked directly what that was I failed to get any kind of answer), I feel terrible all of the time with terrible circulation and can hardly walk most days, I am on warfarin.

    I was informed in a copy of the pofs letter to my GP that if symptoms do not go whist taking plaquenel that they will conclude that I do not have this syndrome!!!! AND I AGREE that this cannot be right, they cannot rely on medication which is clearly written in their information leaflet which states that unfortunately most of these immunosupressants are not successful!!!???

    Where does that leave us? I really am at my wits end also, so I do feel for you. I now await a consultation with a Neuro following my recent MRI of the brain etc, hopefully I may get some answers.

    Hope you feel better.

    Traceylouxxxx

  • So sorry to hear about what you have been through and the ongoing frustration you are going through now Tracey, thank you for taking the time to write with your opinion and show your support. :-) Im keeping everything crossed for you re some answers sooner rather than later.Hugs, Sue xxx

  • Hi Sue

    I can only speak for my self having also had an MI which wasn't shown up on a ECG . But because the Doctor (out of hours service Doctor) who didn't know me and despite having only slight chest pain, got me a Ambulance to the nearest Hospital. because I told him that I had a blood clotting problem. 12 hour test showed 7.8 scale MI Since blood thinners I am better than I have been for years.

    I think if you have a problem all you have to do is inform the medical profession that you have a problem with your blood and seeing a professor of Haematology.

    Nobody could ignore that .

    Having seen a Neurologist for years and a local Haematologist Cardiologist I am now under a Rheumatologist as well along withProfessor Hunt who I think is brilliant. She is the top Haematologist in Hughes syndrome having taken over from Professor Hughes himself in the NHS. please someone correct me if I am wrong.

    I have Hughes syndrome, Sneddons syndrome, Oesteonecrosos and I would

    trust Professor Hunt with my life, in fact I do

    Karen xx

  • Hi Karen

    Thanks for writing back and for the vote of confidence about Prof Hunt, from what I have found out I agree with you she seems to be very well versed in APS. Im glad to hear you think so highly of her and that has given me a boost and hope for an early resolution. Thanks again, Sue xxx

  • Just coming back on a couple of things in your first post. Cardiac Syndrome X, Fibro and Hughes are all linked therefore some of your symptoms do not surprise me.

    After my stroke I had two incidents with abnormal ECG which sent them rushing to do an Angiogram. You could drive a bus through my veins and arteries! I still however continue to get angina type pain.

    I have also been put on Plaquenil as well as heparin, the latter making a big difference within 10 days. What was thought to be residue Stroke problems soon improved including cognitive and speech. Plaquenil can take a few months to kick in, Prof said 3-4.

    What is not going to help now is the new BCSH guidelines on seronegative dx. Its going to make it much harder for Dr's to stick their heads above the parapet. For Prof its so much easier to do so, after all the disease is named after him and he obviously feels he has the right, thank god for that!

    Hang in there, Im sure they have your back but perhaps have to be careful how they are seen to have it!

  • Oh I should add.....I asked Prof once if I was going to have to fight all the time to have my dx accepted, he answered very emphatically NO! When I asked why he just looked at me and smiled and said quietly, "Because I am the Boss!"

  • Thanks Lynne. I too have a multitude of symptoms including the good old brain fog. Good to hear the plaquenil and heparin really helped you, I have read that from a number of sources so I hope the same happens for me. Lucky you seeing the big man himself! Im glad Prof Hughes is supporting you so fully.

  • Hi,

    A lot of us, including me, have had to start with private consultations at London Bridge.

    I think it is very unlikely that NHS funding would stretch to a second opinion being granted privately.

    Prof. Hughes is a Rheumatologist and Prof. Hunt a Haematologist so as you will know they have different specialties.

    I see Prof. Khamashta who is a Consultant Physician.

    All this is a bit confusing until you realize that originally Prof. Hughes put all the best heads together under one roof at the Louise Coutes Lupus Unit at St. Thomas'.

    Unfortunately this centre of excellance appears to be subject to systematic dismantling by NHS managers or should I say henchmen!?

    Most of the patients that I know of that started their journey have ultimately had the diagnosis proved following a test run on meds.

    I now have daily Clexane injections. They haven't made me entirely better and I still get periods of the debilitating brain fog but the illness is severe and they may just keep me safe.

    Hope this helps and you get some positive answers soon.

  • Hi Sue (?) Thanks v much for the reply. I did know about prof Hughes and Hunt being under different specialities but was saddened to hear about the state of Louise Coote Unit, although not entirely suprised. Extremely nteresting to hear that for so many patients the theraputic effect of certain meds finalises the diagnosis of APS. I am sorry to hear your condition is severe and really hope the docs and meds are helping you all they can.Apart from the great info and support here, what I have also found inspiring recently is a reminder from a friend with lupus and APS that it is up to me how much I make of the words that label the condition. Wise words indeed.

  • Welcome to the group we all here to help you where we can please do ask and we try and help.

    Paddy

  • Thanks Paddy...its a wonderful site and Ive already found many of your polls v helpful and insightful, saved me asking more questions, cheers, Sue.

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