Referral from rheumatologist for suspected ehlers danlos syndrome. With lupus like symptoms. Advice please.

I have been back to my rheumatologist due to lupus like symptoms. An endocrinologist and dermatologist suspect lupus or somet similar autoimmune disease. This has been dismissed by my gp and now being referred to a geneticist. Any advice on this?

[Barnclown]

Hello again sophie

Just a quickie cause gotta behave cause have had first phase of spine surgery today...so am actually “out of action”

My first reaction is that a referrals to a geneticist &/or hEDS expert like the rheumy Dr Hakim in london for joint hypermobility investigations could help A LOT...so long as it’s actually a geneticist who is expert in hypermobility! Like all medical/scientific fields, there are experts who really only know about their speciality. I tend to feel it’s our right to politely ask rheumies & geneticists what their field of expertise is specifically....and if the consultant’s expertise is in some other area, why not ask them whether they have a colleague whose expertise is SLE & lupus-like conditions &/or hypermobility, especially the hEDS & the genetic type of EDS...etc etc.

I forget what we discussed when we first met on HU, but in case i didn’t mention this: being diagnosed with almost all autoimmune conditions can take as long as 7-10 years...in some ways this can be sort of reassuring, cause it can mean the severity of your health issues isn’t as great as it could be...eg as in my case...also it can mean you avoid having to be prescribed the sort of heavy duty meds i’m on now + risk their side effects...i remind myself of this A LOT - cause, as i think you know, my infancy lupus diagnosis was lost and the nhs took 40 years to rediagnose me in 2010. Meanwhile, in the late 1990s i was diagnosed as a hEDS type. And all the time i was suffering from a simultaneous Antibody Deficiency Disease so of course i tested seroneg for autoimmunity anyway. Those 40 years un the diagnostic wilderness were vvvv distressing...and i feel HUGELY for all going through this ordeal, as you are...

so: COURAGE...hang on in there...and do your best to lifestyle manage...also you can stay close to one GP who is familiar with your health issues...and MAYBE also join the healthunlocked Lupus UK forum if you haven’t already...mention that you’re looking for advice from others whose diagnostic journey began the way yours has...if you haven’t already, i’m sure you’ll get good supportive replies

Apologies: i wish i could be more help...but am sure you understand

🍀🍀🍀🍀 Coco

[Hidden in reply to Barnclown]

Hi coco. Thanks for the reply. Wishing you all.the best for your surgery. The first I had heard of EDS was last week. I still suspect an underlying autoimmune condition. Can EDS cause similar symptoms to Lupus? I struggle daily with temperature regulation. Fluctuating between being too hot then too cold. Is that EDS or Lupus related? X

[cyberbarn]

It is worth remembering Hickham's Dictum. "Patients can have as many diseases as they damn well please."

So you may well have an autoimmune disease and EDS. There many different autoimmune diseases, but EDS is a wide spectrum too. So while temperature regulation is not part of the diagnostic criteria for EDS, it doesn't mean to say that people with EDS don't also have temperature regulation problems. It could be that one disease interferes with another, or causes another to be worse, or that a third thing is causing both sets of symptoms from both diseases.

Something else that is important to remember is that there is a lot of uncertainty in medicine. Sometimes we just don't know, and can't know. That is really frustrating for the patients who wait years for a diagnoses.

In most other countries it is the geneticist that diagnoses EDS, not the rheumatologist, so hopefully your appointment with the geneticist will shed some light on what is going on for you. Good luck!

[Hidden in reply to cyberbarn]

Hi thank you for the reply. Frustrating is right. I had never heard of EDS until my rheumatologist mentioned it. The only connection I can see is scoliosis and reynauds. They are linked to EDS?

[cyberbarn in reply to Hidden]

There is one rare form of EDS that features severe scoliosis, but it is unlikely you would have that and not already be diagnosed as the criteria is severe and progressive. However that doesn't mean that those with hypermobile EDS, the most common form, don't have mild scoliosis. As for Reynauds, many with hEDS might have that too, but there could also be other things like POTS or another autonomic dysfunction. One of the defining features of EDS is skin involvement, with many people having hyperextensibile or stretchy skin, or skin with a velvety texture.

Have you had a look at the EDS UK website? ehlers-danlos.org/what-is-eds/

[Hidden in reply to cyberbarn]

Hi my scoliosis is quite severe. Was only discovered last year through an X ray. So waiting on orthopedics referral about that. I have no problems with my skin that's why I was sceptical. The rheumatologist also mentioned Marfans syndrome. It's all very confusing to me.

[cyberbarn in reply to Hidden]

yes, I can see at this point it will be confusing. Hang in there, you will get to the right place in the end!

[Hidden in reply to cyberbarn]

Thank you. It does get frustrating going from different specialists. I always thought the temperature dysregulation was thyroid related. Do you have any experience on autoimmune diseases yourself?

[cyberbarn in reply to Hidden]

I have Hashimoto's thyroiditis, and some sort of arthritis that isn't diagnosed yet. Or at least one GP over the phone told me I had osteoarthritis! I changed GPs and the new one has referred me to Rheumatology.

I am in my 50s now, but have had symptoms that could be consistent with Raynaurds for many years, but I suspect it is more likely related to the EDS than anything thyroid related.

My son has a formal diagnoses of hEDS, but despite the new RCGP toolkit my new GP won't put that diagnoses in my records.

Actually, you might find the RCGP toolkit useful for yourself, and to share with your clinicians. rcgp.org.uk/clinical-and-re...

[gillianTS]

Hi Sophie2009

You said you had been referred due to Lupus like symptoms, the following is list, not exhaustive but a list of the most common symptoms, do you have all these:

symptoms include:

Achy joints (arthralgia)

Unexplained fever (more than 100 F)

Swollen joints (arthritis)

Prolonged or extreme fatigue

Skin rash

Ankle swelling and fluid accumulation

Pain in the chest when breathing deeply (pleurisy)

A butterfly-shaped rash across the cheeks and nose

Hair loss

Sensitivity to the sun and/or other light

Seizures

Mouth or nose sores

Pale or purple fingers or toes from cold or stress (Raynaud's phenomenon)

Is there anything else you would add to the above?

Are you monitoring your temperature and other symptoms, really good idea to take pictures and chart everything to take along to your appointments. I had to wait nearly 18 months to see a geneticist, he decided not to carry out testing because my family history pointed to EDS, I have a auto immune condition too which he said no positive test existed for this so I felt a little deflated by the whole experience, I hope you have a much better experience and they can help Identify what is going on with your body.

Hypothyroidism can cause fluctuations in body temperature too. Symptoms include fatigue and weakness, depression, constipation, increased sensitivity to cold, brittle nails and hair and heavier menstrual flow in women.

Left untreated, hypothyroidism can lead to puffiness in the face, hands and feet, obesity, thickened skin, decreased sense of taste and smell, fertility problems, joint pain and even heart disease.

Hope you start to get answers soon

[Hidden in reply to gillianTS]

Yes I seem to have a mixture of both lupus and thyroid symptoms. Extreme heat and cold intolerance. Loss of appetite and weight loss. Randomly feeling like I have the flu when I need to spend the day in bed. Bouts of nausea and generally feeling unwell. I get back pain and neck pain. I a developed a sun rash a few years ago and raynuads too. I get a rash on my face which the dermatologist thought looked like a lupus rash. I had realky had night sweats a few months ago but have settled down now. Chronic fatigue and complete lack of energy. Maybe due to thyroid problems but a significant change in hair texture so very dry and brittle and breaks easily (no hair loss though )

[gillianTS in reply to Hidden]

Have they checked you for hypothyroidism? have you gradually gone down or has this happened quickly? sometimes we need to feed our GP's I fought from the age of 16 to my 50's before discovering I have Behcet's but only after I had hit rock bottom and spent years researching and then came across this, the GP completely and utterly discounted it but I insisted on being referred and no sooner had I got everything out of my mouth and shown all my pictures and charts to the rheumatologist I was told it was highly likely this is what I had Behcet's, and at last treatment and someone taking me seriously.

Please do not be discounted keep going back, you cannot be left all this time with no help hoping a geneticist might discover what you may have it could take ages to get to that stage meanwhile you are suffering.

[gillianTS in reply to Hidden]

Thinking about it you would usually see weight gain with hypothyroidism. Here are the symptoms of Hyperthyroidism which can mimic other health problems, which can make it difficult for your doctor to diagnose. It can also cause a wide variety of signs and symptoms, including:

Unintentional weight loss, even when your appetite and food intake stay the same or increase

Rapid heartbeat (tachycardia) — commonly more than 100 beats a minute

Irregular heartbeat (arrhythmia)

Pounding of your heart (palpitations)

Increased appetite

Nervousness, anxiety and irritability

Tremor — usually a fine trembling in your hands and fingers

Sweating

Changes in menstrual patterns

Increased sensitivity to heat

Changes in bowel patterns, especially more frequent bowel movements

An enlarged thyroid gland (goiter), which may appear as a swelling at the base of your neck

Fatigue, muscle weakness

Difficulty sleeping

Skin thinning

Fine, brittle hair

Gillian x

[Hidden in reply to gillianTS]

Hi thank you. I had been very cold intolerant for a while. Last summer needing a hot water bottle even on the warmest days. Like internal shivering. Now it's the complete opposite in winter. Needing a fan to cool down. I seemed to have developed some kind of light sensitivity. In bright lights i develop a rash on my face and upper body. It frequently happens when in the hospital where there's bright lighting. Along with my sun allergy and raynaud's. Possibly lupus related?

[gillianTS in reply to Hidden]

Hi Sophie

Also I thought it might be worth you joining the Thyroid group on healthunlocked who might be much more familiar with lupus and thyroid issues together.

Gillian

[Saassii]

Do you have any signs of water damage? Any visible mold or peeling paint? Stained ceiling? Do you know anything that triggers or worsens your symptoms?

[Hidden in reply to Saassii]

Hi saassii. No.there's nothing like that. I don't know anything thats a trigger. Things happen randomly.

[Saassii]

If symptoms wax and wane there may be unrecognised triggers. Learn about aero-allergens and foods that are triggers and try elimination and see if you gain any ground. To me and many in the medical community "auto immune" sounds not well understood. It makes no sense that the immune system attacks itself, we're too intelligent a design. Often the triggers are just unrecognised or too small to be understood to be connected. Microbes are savage, bacteria, virus, mold etc, they're largely invisible, doesn't mean they're not impacting. They give off mVOCs (microbial volatile organic compounds) as they digest substrate, those are triggers also!! Just can't often see them....