My colleague and friend Munther Khamashta gave me a wonderful book of quotations of Dr. William Osler. Such an inspiration – a doctor who combined day to day clinical practice with teaching and clinical research. His papers include one of the early descriptions of systemic lupus in 1895.
One of his quotations concerns stroke – the subject of today’s ‘patient of the month’. “The chief difficulty in deciding upon a method of treatment (of stroke) is to determine whether the apoplexy is due to haemorrhage or to thrombosis.”
I hope that this year, 2019, our new charity GHIC will finally come of age. Our website, ghic.world is aimed at linking patients and patient groups with doctors – worldwide.
I hope that the monthly blog “patient of the month” will stimulate more questions and opinions.
Patient of the month.
Stroke: can we help?
I feel that stroke, one of the worst legacies of Hughes syndrome has been under represented in these monthly blogs. This very short case report comes straight to the point.
Mr J.O. aged 39 was a fit, healthy, amateur sportsman.
He had no particular past history of illness, and had taken, and passed two medical exams. However, since his teens he suffered from migraine, sometimes one a month. Over one weekend, he developed severe headaches “worse than a migraine”, worsening balance and speech problems, and on admission to hospital was diagnosed as severe stroke. Emergency tests including MRI showed a moderately large area of brain ischaemia.
Other tests gave no clue to the cause of the stroke.
Whilst still in hospital, he developed a further, possibly two, strokes.
Sadly, over the next few months, he developed further strokes. His general condition worsened and he gradually deteriorated into a semi-vegetative state. He survived a further two years or so, wheelchair bound in a chronic care centre, finally dying of infection.
His medical team worked hard at investigating a possible cause. And yes, one test showed strongly positive – his test for anti-phospholipid antibodies (aPL) – very strongly positive on a number of occasions. Treatment with warfarin was briefly tried, but it was probably too late to help.
What is this patient teaching us?
This case report focuses on one of the worst, most frightening results of the antiphospholipid syndrome. Full neurological work up failed to point to any other diagnosis. Possibly nothing could have saved this young man. There were no other possible causes, and the stroke was sudden and catastrophic.
Were there clues in the history? Possibly the migraine. Over the years there have been a small number of reports of a link between migraine and stroke, and I have suggested that link might well be Hughes syndrome. Certainly, I would argue for aPL testing of any individual with recurrent severe history of migraine.
Any clues from the family history? His mother had been treated for non-Hodgkins lymphoma.
Related?
Could be. Non-Hodgkins lymphoma has links with a number of auto-immune diseases – “we need more studies”, as the saying goes.
To go back to William Osler – bleeding or thrombosis? In Hughes syndrome the answer is clearly thrombosis.
Today, stroke is the third most common cause of death and the largest cause of severe disability in the UK. Hughes syndrome causes 20% of young (under 45) strokes.
Currently, the UK government is supporting a new initiative in stroke diagnosis and treatment.
With simple aPL blood testing, we may be in a position to improve those figures.
Hello and many thanks for another one of these deeply helpful blog posts
I am seroneg for all my early onset AIDs. My systemic lupus was diagnosed when i was a toddler in the early 1950s. My mother can’t recall whether my blood was tested. I assume the diagnosis was clinical - apparently i had classic lupus rash.
I also am diagnosed with early onset chronic hypogammaglobulinaemia/Antibody Deficiency Disease. Although i do meet enough official diagnostic criteria to be diagnosed with lupus & sjogrens, my blood test results are seronegative. And aPL tests have also been negative. All my consultants at my multi-system clinics say my general seronegativity is probably due to this primary immunodeficiency disease & age (65). My lead clinicians are the chiefs of rheumatology connective tissue/lupus & vasculitis clinic & immunology clinic at a major UK university hospital
I’ve had early onset unexplained chronic severe migraine all my life, which i discovered by chance responds positively to management with my endometriosis medication: the powerful prescription NSAID mefenamic acid 500mg.
I wonder: is it possible to meet diagnostic criteria for antiphospholid syndrome despite seronegative blood test results?
When I say you were "fortunate" to have that diagnosis so young, I hope you understand when I say that many don't get a diagnosis, some for decades. However, treatment was not as it is today, thanks to Dr Graham RV Hughes.
Please note that I am not a medical doctor!
There is certainly a relationship between lupus and our hormonal systems. I was diagnosed with polycystic ovarian syndrome and my gynecologist told me that my symptoms made sense, after I told him my diagnosis.
Many patients are zero-negative because, quoting Dr Hughes, the blood tests may not be very sensitive. Thus, blood tests can and do change. There are lupus variant conditions and other tests, not routinely performed, such as the immunoglobulins IgG, IgA and IgM.
Similarly, with APS, which is why Dr Hughes and good doctors, treat the patient and not the disease. If the patient had symptoms, alleviate them!
Yes i guess have been fortunate in some ways, but, equally, unfortunate in others:
My lupus diagnosis was when i was a 1 1/2 year old unfant in the usa. That diagnosis was clinical...by a NYC doctor who must've had great experience & insight. My tiny body was covered in classic lupus rashes.
As i understand it, back then lab tests were relatively unsophisticated and lupus tended to be diagnosed in obvious cases.
Unfortunately, for various reasons, my parents conspired with our medics to succeed in keeping me ignorant of my lupus diagnosis - long story
So i grew up thinking i was just more sickly/delicate than other youngsters. In childhood my case must’ve been a relatively mild, relapsing & remitting type because i spent little time in hospital...relying more on self help via lifestyle management techniques & complementary therapies. My mother was very anti-doctors & superstitious. But i do remember having bewildering long dreadul flares of severe illness that the adults never explained
Also, growing up i suffered from what my immunolgy chief calls bacteria-driven persistence pattern multisystem infections. He believes these were due to early onset Primary Deficiency Disease (PID) ...he has diagnosed me with chronic hypogammaglobulinaemia (below range IgG, A & M) which he believes was, like my SLE, v early onset, .- certainly way before the NHS finally figured out that SLE was underlying almost all the diseases it had been diagnosing & treating since i moved to the UK at 21, leaving my medical records (and of course that infant onset lupus diagnosis) behind.
During my 30+ years living & working in the UK with the NHS never making much effort to join up the dots provided by my collection of multi-system illnesses (and tending to blame my chronic spine conditions for everything, which of course was nonsensical - long story), i had become deeply depressed and housebound for obvious reasons.
Then HURRAH, in 2010-11 good fortune hit when my feet & hands were so classically severely affected that my long-time Pain Consultant insisted my GP refer me to rheumatology. a brilliant lupus expert rheumatologist examined me & took what i knew of my history for 2 hours. She recognised my seroneg SLE (you're right: below range complements & a lonnng history of below range lymphocytes helpd with the “recovery” of my lupus diagnosis).
At that point, to my consultant’s delight, my maverick mother announced: but dear, you’ve ALWAYS had lupus! And explained the infancy diagnosis etc. At that point, i’d never even heard of lupus.... and had nil knowledge of immune dysfunction & connective tissue disorder conditions
8 years on, am now managing my depression (that’s a whole other story) quite well and FINALLY convincingly diagnosed with the primaries hEDS + SLE + PID, as well as the usual sort of collections of secondary conditions. Am responding positively to all my combined therapy treatment plans and feeling “better” than i have generally since my early teens. But of course, these diseases progressed systemically until 2011 & the recovery of my diagnosis. By then i was in my 50s, multi-system debilitatiin progressed without daily systemic treatment...and the inevitable deterioration cannot be reversed
Interestingly, i am a DES daughter....(so have endometrisis, am unable to bear children due to severe internal reproductive system birth defects...l am monitored annually for rare vaginal etc cancers by Gyn Onc according to NHS DES Faughter protocol etc)...extremely unusual in the UK (there are more of us in the USA, Australia, NZ, France Holland, Germany)...& Consultants tend to think those 5 months of daily exposure to the internationally notorious endocrine disrupting artificial oestrogen DES (diethstilbestrol) may well have tipped my familial genetic predispositions over into the infant onset lupus...perhaps i’ll live long enough to witness science confirming a correlation...here is a link to my fav officially published paper on DES:
So all that leaves me open-minded to the possibility of more autoimmunity diagnoses cropping up despite my seronegativity
Apologies for the lonnnng reply, but your forum always encourages contemplation....since my rediagnosis in 2011 i have studied the fascinating hostory of lupus, from the Ancient world till current day. And your amazing forum has helped a lot with this. Understanding this history + eplaining my stuff helps me get a better grip on it all. Life with these illnesses is just a bit easier to tolerate now we have a relatively convincing context for all this, although am always ready to learn more
Thanks for giving us this invaluable platform & all this counselling + information
I am glad that you feel you can write about yourself here, that it is safe-enough to do so. Your story has moved me greatly. When I was married, I also had difficult in conceiving and was finally diagnosed with polycystic ovarian syndrome. When I told my gynaecologist, his eyes lit up and said, "this all makes sense"! I also have a very peculiar immunoglobulins with a low IgG, a high IgM and IgA sometimes high, sometimes "normal"!
It is unsurprising that those with autoimmune diseases have more than one!. The problem is finding a rheumatologist who is experienced with SLE; most are not as it is poorly taught in the UK. It is also problem for those with sero-negative SLE. I do not have "classic" SLE, but a variant. It took 6 rheumatologists to get a diagnosis via Dr Hughes.
Depression, anxiety can be caused by SLE; but it is also a "normal" human response to a terrible, painful, chronic "dis-ease"! As Professor Isenberg remarked: if a patient denies they have had any depression, I would worry that there may be brain inflammation!
Thank you for your reference. I will read it.
As always, if I can help in any way, or you just would like to talk, I am here!
Thanks again Ros for your deeply thoughtful & considerate reply: means A LOT to me
At 65 (going on 95 due to all the illness) and at high risk in so many ways, i am trying to get my story out there, for what it’s worth...hoping it can help everyone in some way, from patients to medics to families to friends to colleagues...now & as the future unfolds. I have written articles about ‘chapters’ in my diagnostic journey, these are in the public domain. And my dear friend the poet Shaista Tayabali of the Lupus in Flight blog, has posted videos on youtube of us pondering all this. That’s about all i can manage alongside my complex overlapping incurable health stuff
I just hope i survive long enough to see immune dysfunction & connective tissue disorders better understood by EVERYONE, also more convincingly classified + diagnosed AND more effectively treated managed. My feeling is that forums like yours are KEY to all this
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