LUPUS UK
22,212 members17,621 posts

Help needed with diagnosis

Hi there I’ve been fighting with my health now on and off for about 13 yrs, I always get sent to a neurologist but after having some blood test done and looking at the results on line and what it could mean I came across lupus, and found a list of symptoms that match what I’m going through but have never been asked about I have also just found out my nan and sent had it too I have a raised igm and am testing positive for ana But the neurologist today said because my double stranded dna is negative then I can not possibly have lupus Can some tell me if that’s actually the case?

29 Replies
oldestnewest

Have you looked up Sjögren’s? This can present with neuro symptoms first, particularly if anti Ro negative - and dry eyes and mouth can sometimes come later so no one thinks of it. ANA is usually positive. About 50% of sufferers don’t have the more specific antibodies whereas only 5% of Lupus sufferers are believed to be seronegative.

If Sjogrens sounds like a contender for you then these links might help - perhaps you could print them off and show your neurologist as I did?

hopkinssjogrens.org/disease...

practicalneurology.com/2017...

2 likes
Reply

Thank you I will have a look 👀:)

1 like
Reply

Im not sure this applies to me I’ve had the reflexes tested and mine are fine it’s so hard to pin point everything I’m getting so confused with all the symptoms and problems it’s making me feel like I’m mad the worst part is getting confused while I’m in there and then I end up not talking about everything I want to and feel stupid when I leave :(

Reply

Well most of my reflexes, apart from ankles, are normal too. Small fibre neuropathy and PoTS are often pointers to autoimmunity - particularly Sjögren’s and sometimes Lupus. You aren’t mad - but these invisible symptoms drive the sanest of us a little distracted and 😩 - hang in there and try and read my links sometime if you can. Xx

2 likes
Reply

Hello Tinks19790,

There are many different forms of Auto-Immune disease, classified according to what tissues they most effect, and what symptoms they produce. Lupus (or to give it its full name, Systemic Lupus Erythematosis) is one

specific condition among a whole family of related conditions that also includes Undifferentiated Connective Tissue Disease, Sjogren's Disease, and many more.

To qualify for a diagnosis of lupus, you usually have to test positive for dsDNA antibodies, so in that narrow sense, your neurologist is correct. However, even if you test negative, you might still have a serious auto-immune condition similar to lupus. For example, I test negative for dsDNA abs, but have numerous other markers and life-changing symptoms that are typical of a systemic auto-immune disorder. At various times, I've been given the label of Undifferentiated Connective Tissue Disease, Sjogren's Disease, Overlap Syndrome and Interstitial Lung Disease. But my signs and symptoms haven't changed, only the particular interpretation that my clinician!

In any case, the treatments for all these diseases tends to be similar, and as I say, just because you don't fit the strict "lupus" definition, that doesn't mean that you have no systemic auto-immune problem.

The LupusUK leaflets here give you more information - maybe start with the one on symptoms and diagnosis? lupusuk.org.uk/publications/

Hope that helps x

3 likes
Reply

With the research I have done it say one in 2 people who have lupus will test negitive for dsdna he didn’t listen to what symptoms I had either he just read my blood test results and asked my age

Reply

That doesn't sound very helpful. Have you had a referral or assessment by a rheumatologist at all - they are often the people who diagnose lupus and related conditions? x

2 likes
Reply

No, for 13 yrs I’ve never been sent to one but I have an appointment with one on the 5th January now because once I received my results this time I have got them printed out for myself I took them home and did some research on my results after doing that and coming across this I found out my nan and auntie have it but I didn’t know that before so it’s not been put down on my history so I was sent back to the neurologist to speak to them about it and he literally asked my age before even introducing himself which is on my notes anyway asked me to sit down asked why I was there I said after seeing my results I had a conversation with the doctor about lupus, he then stopped me and got my results up on the screen told me I categorically do not lupus because the dsdna was negitive but after reading on line and even the links you just added only half of people with lupus test positive for dsdna I have over 4 on the list of things they go on for lupus plus a positive result for ana with homogeneous and speakled pattern and an ena screen of o.8 with an increases igm and an abnormally noted on serum electrophoresis but obviously I don’t know what any of that means but that’s what made me start looking online at what it could mean

Reply

Let's hope the rheumatologist is able to make more sense than your neurologist then! :)

2 likes
Reply

Here in the US, lupus can be diagnosed on the basis of 4 of 11 signs and symptoms. Positive dsDNA is just one sign, but a positive ANA is another. The truth of the matter is that there is really no agreed upon way of interpreting signs or symptoms and the personality of the clinician matters way to much in diagnosing these autoimmune diseases. There needs to be more lobbying for a coherent set of standards that all clinicians are to adhere to. They also should study whether the lab thresholds are set at a helpful interpretive level? For instance, endocrinologist changed the TSH levels for diagnosing thyroid disease after patients clamored for years arguing that the y felt sick way before the level that were classified as abnormal were reached. This needs to happen with lupus. As one physician said, "Symptom show up sometimes 10 years before the labs catch up."

Signs and Symptoms:

Butterfly (malar) rash on cheeks

Rash on face, arms, neck, torso (discoid rash)

Skin rashes that result from exposure to sunlight or ultraviolet light (photosensitivity)

Mouth or nasal sores (ulcers), usually painless

Joint swelling, stiffness, pain involving two or more joints (arthritis)

Inflammation of the membranes surrounding the lungs (pleuritis) or heart (pericarditis)

Abnormalities in urine, such as increased protein or clumps of red blood cells or kidney cells, called cell casts

Nervous system problems, such as seizures or psychosis, without known cause

Problems with the blood, such as reduced numbers of red blood cells (anemia), platelets, or white blood cells

Laboratory tests showing increased autoimmune activity (antibodies against normal tissue)

Positive antinuclear antibody (ANA) test

Reply

And I have most of them this is what is so hard here being told I have most of these including a positive ana that I do not have it because the dsdna is negative isn’t right I will fight this at the next appointment if I don’t get anywhere

Many thanks for taking the time to comment every little helps :)

Reply

I have 10 of the 11, including positive dsDNA, positive anti-SM and positive ANA, heart failure, chronic partial lung collapses, misty mesentery (pleural effusion in abdomen), malar rash, mouth sores, etc, and I am diagnosed with undifferentiated connective tissue disease (UCTD), partly because doctors simply do not respect the work of other doctors. My siste and one of my cousin died from complications of lupus. Two of my male cousin have it as well. To me, this disease a deadly serious, but the doctors seem to play around with the diagnosis. Often when a doctor has not seen something for him or her -self, s/he do not believe what is in your record. Makes me wonder why we have medical records? Those 4 criteria do not have to show up together. They can show up over many years, and you do not have to keep testing positive. All of my labs test negative now. They may never test positive again. The only good thing is this: Lupus, UCTD, and MCTD are all treated the same, so as long as they are say that you have a system connective tissue disease, figure that's likely the best you will get. Put someone on the hook for your health. If s/he says you do not have lupus and you get sick it is on that doctor. As long as they can duck responsibility, some will. My PCP (primary) believes it is lupus, partly because it was diagnosed and because I have skin, lung, heart, and intestinal issues. She is afraid partly because the rheumys seem to want to dump me on her. She already told me that she does not want responsibility for what happens to my kidneys, etc. I don't blame her. This is why few people want to be primary care physicians (GPs).

Reply

I’m just trying to gather all the info I can before I see the other doctor as I am fed up of having no treatment for anything and being sent from department to department and trusting what they say because surly one of them is wrong as I’m still ill with no diagnosis my hair is still falling out the rashes are still here I still am bed bound some days and I’m getting to the point I can’t cope anymore

Reply

Hi , I know how you feel my daughter is having the same problems , I have had lupus for 15 years , my daughter has been having symptoms for over 5 years since the birth of her first child and she isn't being taken seriously , she said they treat her like they think she is being neurotic because I have lupus , also her grandmother on her father's side has lupus . They say lupus isn't hireditory but it's genetic , what's the bloody difference ? I am worried about her because she's ten weeks pregnant with her second child now and it's coming up to winter when she is usually bad with her flares . She saw a rhematologist last Feb after having a really bad flare and he said he didn't think it was lupus , did blood tests , told her to take pictures of her swollen hands next time it happens and said he would see her in 3 months , she has never received another appointment .

Reply

Mine started after the birth Of my daughter my nan and auntie had lupus but I didn’t know that until a month ago my nan isn’t here anymore I found out from family in Australia my hands swell and funnily enough my flares are worse in winter it’s just getting so frustrating for him to say it’s not possible to have lupus if that’s negative for me to read on lupus uk that only 1 in 2 people it’s positive how is that right? So I can only believe he has sent half the people who have lupus away and told them they don’t have it! This is what is wrong with the medical system it’s like you are fobbed off all the time I hope you daughter gets some head way soon I’m not going out without a fight this time

Reply

Your neurologist and your doctor are wrong and you are correct. You do not need to be anti dsDNA +ve to have lupus. As your research has found, between 30-50% of people with lupus will be dsDNA -ve. Recent research shows that it is more highly specific for kidney involvement but much less so for neurological involvement. Please do not think you are mad and don't give up - many of us have had this problem with neurologists. I was diagnosed with lupus over 6 years ago, being ANA +ve and now have met 7 ACR criteria over time yet when I was in hospital recently with neurological problems the neurologists told me I couldn't have lupus because my dsDNA was negative (and my ANA had become temporarily negative due to high steroid use which they didn't know could happen). I was too ill to educate them at the time but have since written to them and the head of neurology attempting to correct this dangerous misunderstanding, with references to research. My rheumatologist was cross and also wrote to them including this comment 'having looked after many patients with neurological and neuropsychiatric lupus, we have found that dsDNA is an extremely unreliable marker for cerebral activity'. Two rheumatologists diagnosed me with NPSLE (neuro-psychiatric lupus - scary term but just the current word for any neurological involvement) and the neurologists have now apologised, organised the appropriate tests and referred me to the neurologist with expertise in lupus. It was very demoralising and very hard work to get to this point and I work in medical research so had access to all the research but when I was so ill I didn't have the brainpower or energy to fight it and a basic misunderstanding about something like dsDNA can be dangerous as it delays treatment.

I can't believe you've been waiting so many years and really hope you get somewhere now you've finally got a rheumatologist appointment. No one wants to have an autoimmune disease but when you know you've got one or that something is wrong you need support and a diagnosis to get the treatment and start getting better.

Do you mind me asking what your neurological symptoms are? It has only recently been realised that these can be the first signs of lupus, far more likely to be ignored or misdiagnosed than kidney issues which are more well known.

x

4 likes
Reply

I can’t thank everybody enough for there replies i feel like I’ve been on my own with this for so long I’m very thankful to have found this group it is really making a difference to know I’m not alone I get serve headaches confusion fatigue depression vsion problems balance problems mood swings difficulty concentrating numbness and pins and needles speech problems and such bad memeory problems that I’ve probably forgotten more symptoms these are the ones I have been sent to neurologist for and they are the only ones they have ever asked me about but I have been to my doctors for the rash on my face I was told rosacea for 13 yrs my hair has fallen out I had a missing patch the size of my hand and was told stress related alopicia as my dad and nan had died that year no checks were done it grew back 2 yrs later and since then my sides are now missing half my eyebrows and body hair is not much and I have a patch the size of a 10 pence that is missing on a different part of the front but my hair is really thin and I’ve lost loads from everywhere I was told it was my coil so I’ve had it removed a year ago and nothing has grown back I’ve been for my pains in my chest when breathing I was given 2 ecgs and told I was fine I have constant back pain especially lower back I have protein in my urine and my blood results for my kidneys were low but I’ve put that together from results I’ve had printed off myself now that said I should have been checked again in 3 months that was in March and they didn’t even tell me I was just given pain killers for this and sent away without seeing my results I was told the pains in my chest and my arms my wrists and my thumbs was muscle skeletal pain but again was given pain killers and didn’t realise till getting my referral that this in itself is something that should be followed up I do not go out much when at home in the sun but when I go on holiday every year I get a debilitating rash that ruins my holiday and why we only go once a year because I constantly am in pain and itching I was told it was allergies and to take anti histamine I have allergic reactions all the time my eyes swell my face swells rashes etc I’ve had patch testing done and nothing there is so much more as well but i have been to the doctors about all of this and it’s taken me to see my results and do some research to see that all of these symptoms can be explained by one auto immune disease I spoke to my cousin in oz and said after seeing this and the symptoms I think it could be lupus and she was the one who told me my nan and aunt had this so I went back to my doctor( I had the appointment to go back for neurologist blood results that I had printed myself which is where he told me I don’t have it) and she agreed it looked likely and got the appointment for rheumatology

I just don’t understand why I’ve been to the doctors with all the symptoms I have but not one has ever thought to put these together

Reply

I also have b12 deficiency anemia and receive b12 injections and also vitamin d deficiency as I don’t go in the sun due to the rashes

Reply

The more I read my reply I realise there are more and more symptoms missing this is why doctors appointments are so hard as you can’t put everything together

Reply

Melba 1 and others have given you very good replies.

I simply wanted to reply that your neurologist isn't the one to give a diagnosis of lupus or not and therefore his categorically stating that "you do not have lupus", reminded me of myfirst appointment when referred by my GP to rheumatology, i was seen by someone in physio who may have also been a nurse, who literally just asked me a question or two and then without even examining me, told me I had fybro and handed me a printout on it to read and dismissed me! She "Categorically stated" that I did not have inflammatory arthritis , which at the time we thought I had, or anything autoimmune. I dug my heels in and said I knew something was wrong - not fybro, and she reluctantly referred me for an ultrasound on my hands and I ended up seeing a rheumatologist to discuss the results.

I wonder though if I had not been the kind of person who reads up on and researches things, what would have happened!

The point is, that in medicine there are different specialities with ecperts who specialise in different things - it's not rocket science!! And the one who specialises in lupus and other auto immune things is a rheumatogist, not a neurologist or indeed a jumped up nurse/physio person in my case!

You sound like the sort of person who won't get pushed around, keep on doing research, learning about these conditions and keep a diary of symptoms. I hope your appointment in January goes well, please let us know how you get on.

Take care 😊

1 like
Reply

I have only got to this point due to feeling fobbed off for the last 13 yrs and it is now affecting my life so badly that I’ve been signed off work

Thank you for your replies and all your help it honestly is very appreciated

Reply

Go see a rhumatolagist...they specialize in lupus diseas. ..at leat in canada they do.

Reply

Just to add to the other comments , take photos of everything , swollen joints , rashes etc . The rheumatologist that saw my daughter said he wants photos . We said well the hospital doctor who referred her to you saw how swollen her joints were and he said I know but I want to see the evidence myself .

Reply

Hi Tinks19790,

Welcome to the LUPUS UK HealthUnlocked Community!

We offer a free information pack which contains factsheets, guides, a list of helplines and a list of LUPUS UK contacts who you can speak to over the telephone. To download or request this pack, please click here: lupusuk.org.uk/request-info...

We published a guide on ‘the diagnosis of lupus’ which I hope will provide you with some clarity: lupusuk.org.uk/wp-content/u... . There are specific ‘diagnostic’ features of lupus which can be read in our blog article ‘getting a diagnosis of lupus’: lupusuk.org.uk/getting-diag...

Almost 90% of people with lupus experience fatigue making it one of the most common symptoms of lupus. We published an article on our blog about managing fatigue which contains helpful tips and information which you can read here: lupusuk.org.uk/managing-fat...

Confusion, difficulty in articulating thoughts and memory impairment are common symptoms that are associated with lupus; it is referred to as ‘brain fog’ or ‘lupus fog’ by people with lupus. Stress, anxiety and fatigue are a few examples of the causes of brain fog, you can find out more about this in our blog article ‘Coping with Brain Fog’: lupusuk.org.uk/coping-with-...

To read our blog article ‘coping with hair loss’ click here: lupusuk.org.uk/coping-with-...

It is important to bear in mind that lupus presents differently in everybody therefore, it is unlikely for two people to share the exact same experience. It is possible for people to experience periods of remission where their lupus is controlled and they feel relatively better; reducing the signs of their symptoms.

Before attending your appointment you may like to read our blog article about getting the most from medical appointments here: lupusuk.org.uk/getting-the-...

Please let us know how you get on, wishing you all the best.

1 like
Reply

Thank you so much 😊

1 like
Reply

Do remember you are not alone and you will get much better once they start treatment. I found the hydroxychloroquine (the first drug most people with lupus get) helped hugely with the joint pain, alopecia and chest pain (but be aware it takes a few months to work) and steroids are often like magic for many of us. I have had very similar neuro problems to you and after 3 days on 40mg of steroids the pins and needles stopped and after another few days the confusion/forgetfulness etc was much better. I wonder if your GP would give you a couple of weeks worth of decreasing dose of steroids? That has two benefits - it will hopefully make you much better and it will also be added proof that something inflammatory and autoimmune is happening for when you see the rheumatologist. Some GPs are funny about steroids but if you've suffered for years, have an autoimmune family history, are signed off work and tell them, as you've told us, that you are at the point of no longer being able to cope on your won without medical help, hopefully they will let you try.

Lupus has given me a terrible memory and I'm like you in that I forget to tell them all the symptoms. I now make sure I take a list! I do feel for GPs as they have so many different diseases to understand but it would be so helpful for us if someone else other than ourselves could be responsible for looking at the bigger picture of our health and linking all these symptoms together.

Please let us know how you get on and hope you feel much better soon. The advantage of many of your symptoms is that they are very treatable - I'd really push to try steroids if you haven't already.

x

Reply

I have been to a different gp today she went through all my symptoms with me including me showing her photos of sun rashes swollen joints my butterfly rash on my face was visible so I didn’t need to protest that one plus my hair loss and also she had my blood results, I told her what the neurologist said and she told me he is wrong and 70% of people with lupus are positive for dsdna and agreed that lupus is where we are heading she even was happy to start me on treatment but had to check with the hospital as my care is with them and I still need official diagnosis from them?!? And the hospital said no because my symptoms need to be present for my appointment :( 1 step forward and then right back again! 1 good thing tho she wrote an email while I sat there to my consultant rheumatologist saying “this lady has lupus and is waiting for treatment and officials please can we bring her appointment forward” so fingers crossed but I’m not going to hold my breath

Reply

How frustrating. Would the GP prescribe a short course of steroids whilst you wait for the appointment? If you have the energy I'd keep pushing the rheumatology department to bring your appointment forward. When my son was really ill with a neurological disease and we kept getting fobbed off, I found the direct email (most hospitals have a standard way of email addresses so if you know the name you can sometimes work it out!) of a neurologist and wrote a very sad pleading email and got a response within 24 hours and an appointment for the following week.

At least you have a GP fighting your corner too.

Good luck, I so hope you feel better soon. If it's any comfort I was very poorly with neuro-lupus from May and thought I would never get better but I am so much better now. It can feel like a flare like this will never end and you worry that will be your life for ever but the great thing about lupus (OK so not great as we'd obviously rather not have it all!) is that it is a relapsing/remitting disease in nearly all of us so sometimes it leaves as quickly as it flared up.

x

Reply

No they won’t hibe me any treatment before seeing the rheumatologist on the 5th jan! I had an appointment with a different doctor today who is sending me for yet again more testing and also a kidney scan it’s reallt starting to get me down some days I’m really good and want to argue my case as to why they won’t let me back to work and then other days I cry in the street because I feel so ill I don’t know how long I can go without getting some treatment :(

Reply

You may also like...