Hughes Syndrome

I have a son who for years was left struggling to walk, move etc and told to man up by his doctor. Last July '14 he had a heart attack, 2 stents later and three and a half weeks on the heart ward, we finally found out he has Antiphospholipid Syndrome and SLE, he is 27 years old. It took a massive battery of tests to get a diagnosis, his body was at the time, as one doctor said, 'riddled with clots' I thank god he received such excellent care and diagnosis by all those who took care of him back then. He is now in the process of waiting to be told if a bypass operation will help him walk without him having to stop every few metres due to the lack of blood flow to his legs. He has a scar on his face and a dinge in his nose, I have no idea why the GP didn't even consider Lupus because by doing research, we never found a picture of psoriasis like what he had on his nose, shoulders and elbows. We spent ages trying to find out what was wrong with him, even seeing different doctors, took a major health scare to finally be told what was wrong with him, was also when we found out he was massively deficient in vitamin D and that his GP should have dealt with this. I hope in future, other doctors will know about Hughes Syndrome and not fob people off saying they are work shy and theres nothing wrong with them.

13 Replies

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  • I am so sorry to hear about your awful situation, which unfortunately is not unusual. Please do familiarize yourself with our charity website, which carries great information which is regularly updated, and also note the recommended books etc. Where are you located? It helps to have a specialists who understands Hughes Syndrome, we have a list of specialists suggested across the UK. It is vital that GP's keep any eye on Vitamin D, B12 and Iron levels, plus the Thyroid which is frequently implicated. Please use this forum as much as you are able, and do tell your son also he is welcome to join, we have quite a few men on here. My son has Hughes Syndrome/APS as does my daughter plus Lupus. I have both of those plus a few more.

    hughes-syndrome.org/

    hughes-syndrome.org/self-he...

    I hope you perhaps consider a new GP? They sound really not up to speed. Things will radically improve for your son now he has diagnosis, many do well on Plaquenil in addition to the anticoagulants! Welcome by the way.

    I will also add if you see another recent post, that this was debated in The House of Lords the other week, as our charity drives to push awareness to this state of affairs and of course this forum also.

    MaryF

  • I totally agree with what my Colleague, Mary, has said.

    Dave

  • Thank you for your reply, I am still struggling to come to terms with all thats gone on, it has been suggested today that he has aortic bifemoral bypass surgery to improve the blood flow to his legs and the thought of that worries me greatly as he is on Warfarin and a cocktail of other drugs that have helped stabilise his APLS and SLE. It was between changing doctors that not long after he had his heart attack, makes me wonder if things were investigated properly when he first presented to the first doctor if this would have reached the stage that it did leaving my son as incapacitated as he is.

  • You can ask loads of questions prior to this surgery and for a patient such as him they will probably use a technique called bridging with the drugs, lots of people on here have had this. Please use our forum as often as you wish and we will all help you as much as we can. MaryF

  • Thank you Mary, that is a relief to know others have had this kind of operation and come out better for it, its awful watching him struggle with the pain of SLE and the added struggle he has with the lack of blood flow, making it even harder for him to walk, he tells me its like when you run to the stage you get lactic acid build up in your muscles and the pain gets so bad you have to stop til it subsides and hes only walked a few yards or so.

  • Is he on any Plaquenil? That is the drug of choice for Lupus out of St Thomas' Hospital, it better to stick to this brand rather than the generic. Also where are you located. MaryF

  • Hi, sorry for the delay replying, internet been off for a few days. He is being seen at the Manchester Royal Infirmary, he is on anti malaria tablets, don't think its branded though.

  • I understand exactly where you are coming from. At 40 it took for me to have grade 5 kidney failure and lose one kidney for me to be diagnosed with antiphospholipid syndrome

  • Must have been absolutely horrid for you, its incredible what I am reading on here with regards to APLS and the damage it can and does do and unreal at how easily its overlooked or not even known about by most GPs.

  • I was really sorry to read this. I had a similar experience - it took 3 episodes of pulmonary emboli and a host of other health problems before a perceptive cardiologist thought along autoimmune lines. I, too, hope that the future will bring greater awareness of Hughes and early testing in suspected cases.

    My best wishes to you and your family.

  • Best wishes to you and yours and glad you have finally got a diagnosis and the help and care you need.

  • Thank you so much for your kind words, luckily, we are based in Greater Manchester and he was seen by (and still is) a multitude of specialists including Rheumatologists, Vascular Specialists, Haemotologists, Cardiac Specialists and Dermatologists that helped diagnose and sort out his treatment, he still has regular trips to The Kellgren Centre of Rheumatology at Manchester Royal Infirmary their care was and still is absolutely brilliant!

  • Ok, and of course I sent you the list of recommended specialists also. MaryF

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