Scleroderma in a 22 yr male????????

[Fick]

Hi,everyone....I am a 22 year old male....I was having Raynaud's like symptoms since last two winters though I didn't get it this winter perhaps bcoz of a warmer climate....I am having shortness of breath since last two years even at rest which I have noticed getting aggravated after talking food and associated with recurrent belching..... sometimes it occurs even if I have not taken any food....I have been to many doctors ...most of them refused it to be Raynaud's because my fingers would just turn pale and not blue....they said it to be vascular hypersensitivity.....I have done my ANA test twice one year apart... both came out to be negative....I don't know why the reports didn't show any titre..... I had done Pulmonary function test and Chest x ray around 3 times and every report came alright...... I even tried many prokinetics and PPIs to get rid of my recurrent belching(may be because of GERD)but everything in vain.......... plz help me to figure if it can be scleroderma and can it present in a young male in his 20s........I am afraid if i might be having any ILD and afraid of doing a HRCT as it can be carcinogenic.......many doctors said my breathlessness to be psychogenic..........plz do reply even if I know that my sufferings are quite few as compared to other members of this group...

[Hidden]

Hi have they done D dimer/dvt test?

Im having breathing issues ive Raynauds and my fingers don't go blue that much but pale like died/dead! mind you have probably got a Quack that's similar ie brain dead!

Take pictures of it then they can't argue plus Raynauds is far more then blue fingers it can effect any part of the body as circulation is involved and guess what that goes every where!

I had it while back if i was anywhere where slight draught the chill would get into my back/lungs and id be freezing cold no matter how many coats/sitting on heater!

There's someone on here that get's start of a heart attack if get an attack!

We are all different so one way it effects you could be far different with someone else but most Quacks have a very blinkered view to many things.

Mind there Favourite is Psychosomatics/in your head/imagining things!

What that means converted from there "Tech speak" is they don't have a clue/beyond there quackdom knowledge as a GP= someone that knows a little about a lot but not a lot about a little where as a specialist knows a lot about a little as chosen field but not much about a lot

so there issues isn't in your head it's in there's as they don't know or care to listen/deal with it as not in there little check box!

When i did my coaching qualifications/cycle racing so trained lots etc is that your body tells you has many warning signs/signals to alert you plus i trained with a Polar heart rate monitor and did something called King cycle testing(bikes sat on rig you do an exhausted test till can't keep up anymore while gives you your power output constant or peak plus levels you can train at for certain aspects of what type of riding you want)

So depending on how it's set up you can do every aspect of your body like lung capacity/heart rate plus recovery rate as you must have seen on Tv where there doing it with mask over face etc

But one thing with using heart rate monitors esp after doing king cycle test is your max rate and rate for recovery rides and they way your heart responds to input from getting up to exercise tells you how your body is like if high for now reason going down with something if not raising ie increasing as doing things body is too tired so blood flow will be slow and a whole host of signs.

So we have an amazing self diagnostic system like finger nails/eyes/tongue for just a few.

But one of the main ones we was taught was your body just tells you it's not right as we learn't to read the signs/listen to it or it bites you back.

The funny thing was i asked my quack about Lupus as that's what they thought my sister had till found it was Fibro(in my family)she said ho we did a test back then! yet everyone else said ha Lupus that's hard to diagnose takes a long while!

[Fick in reply to Hidden]

Thanks a lot oscarbravo ,,, for your reply.......no they haven't checked out for DVT yet.....As u said the GPs do not seems to be concerned about our problem and escape by levelling it as psychogenic...... Anyway god gives us such health issues so that we can take better care of ourselves......... wishing you a Good and Healthy life......

[dianekjs]

Hi Fick, I'm sorry you're dealing with all of this. To answer your core question, yes, it is possible for a young adult male to have scleroderma, but it is less common in men in general. It's not that doctors don't care - most do - it's that general rheumatologists and primary care physicians simply do t know much about this disease, and it is very complex. Most have never seen an actual case and are unfamiliar with the many disease variants. Only an actual scleroderma specialist will have sufficient knowledge and experience with SSc You should get a referral to one if at all possible.

The first thing you should do is request that your ANA be rechecked by the IFA method. If there's no titer given in your prior result the test was probably not done by the correct IFA method. It was likely done by ELISA or Multiplex, which are the default ANA testing methods used in some labs (they are less expensive for the lab). These methods are less accurate and have about a 40% chance of a false negative. If the ANA by IFA test comes back positive, then you'll need individual antibody testing starting with SCL-70, anti-centromere, and RNA Polymerase III These are the three most common scleroderma-associated antibodies. There are at least 5 additional rarer antibodies that can be checked if the first three are negative. If you have scleroderma you would only be positive for one of the scleroderma antibodies, as they are generally mutually exclusive. Remember that if your ANA by IFA is negative, the individual antibodies don't need to be tested as they will also come back negative.

Raynaud's does not have to exhibit the classic tri-phasic color changes, if your fingers (and/or toes) get pale, cold, and possibly numb and tingly or painful, it may very well be Raynaud's.

You probably don't need a HRCT at this stage, but you should have a baseline echocardiogram done which does not involve radiation. All X-rays use radiation, and while the cumulative radiation exposure over time carries a small risk of cancer, judiciously ordered tests are generally quite safe and the benefit probably outweighs the risk. If pulmonary function tests were normal a HRCT would not typically be indicated.

Consider doing a trial on a PPI such as omeprazole (Prilosec) to see if it alleviates your belching symptoms If it does, then you may well have GERD. Yes, PPIs can have side effects, as can all drugs, and as with diagnostic testing, it boils down to risk vs. benefit. Damage to the esophagus and lungs from uncontrolled GERD is far worse than the possible risks of a PPI drug You may also want to take a good look at your diet and see if it may be causing your symptoms. If it is high in processed or junk foods, sugar, and/or alcohol, that could be a big part of the problem.

Hopefully this has helped to explain a few things and provide you with a few action points to get you started with. Best of luck to you and please keep us posted.

[Fick in reply to dianekjs]

Thanks a lot dianekjs,,for such a nice response.....my ANA test report says that it's by ELISA method.......I will follow your recommendation to do an ANA testing by IFA and let you know about the results...I already had a cardiac evaluation which said it to be normal...the gastric evaluation through endoscopy said it to be GRADE A Esophagitis....I am talking PPI for that.... Thanks again for replying...... take care

[Hidden]

Your symptoms remind me so much of my son's. He has mixed connective tissue disease (a mixture of scleroderma, myositis, rheumatoid, lupus). He started with raynauds at age 10 (he is now 13) and was also getting recurrent burping, belching, abdo pain. He had a positive ANA test. When his joints became painful and swollen and scleroderma changes began and he became very weak and tried he was started on methotrexate and steroids plus PPI for the burping, nifedipine for raynauds and hydroxychloroquine for joints. Autoimmune symptoms settled but burping continued. He was investigated for h pylori, coeliac disease, gallstones, gastric motility, but all tests were negative. I was told he must be 'air swallowing' but I was convinced that no one could swallow this amount of air that was erupting from him!

Anyway, in desperation, I decided to try him on a gluten free diet despite the negative coeliac screen. In 2-3 weeks the burping had pretty much disappeared. On looking further into this on line, it seems that stomach issues, diet, autoimmune disease are all very closely related. If you google 'the paleo approach autoimmune diet' you will find a wealth of information on leaky gut and how diet can cause this and how it can lead to autoimmune disease. My son now follows paleo autoimmune protocol diet which excludes dairy, gluten, refined sugar, soya, nightshade vegetables, corn, eggs. Since following this he has stopped most of his medication. He is still on methotrexate but we are slowly reducing this and we are hoping that he will stop taking it in the next few months. It is a very difficult diet to stick to but he is back to his normal self again since we started it.

Try changing your diet. You may find that your symptoms improve so much that you don't need to have all these investigations that are worrying you. Obviously if you don't see any improvement, you need to get to the bottom of what is causing your symptoms.

I am so convinced that diet is an important factor in people with autoimmune disease and in those who test negative for autoimmune disease but have symptoms such as yours.

I have posted on here before about diet. I have lots more information and resources if you are interested.

Please let me know how you get on.

[tall-tim in reply to Hidden]

"dairy, gluten, refined sugar, soya, nightshade vegetables, corn, eggs."

What things does your son now *enjoy* eating?

I had an allergy test and it came out against dairy and wheat but not the others. However I have noticed that refined sugar instantly makes me feel sleepy and moribund and soya gives me mucus. I could end up living on things like rice, bacon, sprouts, lentils, buckwheat, anchovies, fruit and black chocolate. Oh, and vitamin pills.

[Hidden in reply to tall-tim]

Hi. Sorry for delay replying. My son does enjoy eating loads of stuff. We are fortunate that he is not a fussy eater and has taken to this new lifestyle really well. He has meat / fish with veg for most meals and really enjoys it and feels full. I have been using recipes from mickey trescotts cook books. He still has white rice and potatoes which don't seem to bother him at all and I would struggle to fill him up without these. We are just starting to to reintroduce a few things slowly to see how he is. Having him well and energetic and not taking as much medication is so worth any inconvenience caused by such a strict diet. He's fine and we have all changed our diets to help him (his younger brother and sister included, who are gluten free now most of the time). We have all benefited. My husband and I have lost weight, I have more energy and have never felt better.

If you haven't already, I would look into it. You have nothing to loose and a lot to gain.

Good luck

[tall-tim in reply to Hidden]

It's great to know that you are on top of the diet issue, with good results. I'm gradually moving away from wheat and oats. The Latvian shop in town does excellent boil-in-the-bag 10-minutes buckwheat. Also, excellent bismarck herrings. Worth a try.

[Fick]

Hi Leezycee,,,so sorry to hear about your son fighting with these diseases at such an young age.......his symptoms are quite similar to mine....even I was having unexplained abdominal pain since last 6 months and after a bunch of investigation,doctors labelled it to be IBS.I will follow your advice to stick to a gluten free diet.....kindly,post some link or website regarding the diet ..... thanks a lot for your active response....May God bless you and your son with a healthy life ahead.....

[Hidden in reply to Fick]

Hi fick, some websites I've used to help with the diet are:

Paleomom.com

Autoimmunewellness.com (some great recipes - I've bought a cookbook by Micky Trescott)

Also check out on line blog by Russ Crandall who has managed his autoimmune disease by diet. He has a really interesting personal story and has written some recipe books too.

Other people advocating autoimmune diets are Amy Myers, Chris Kresser, Mark Hymen, Dr Axe. If you google these people you will find loads more information.

Hope that gives you a good start.

Take care.

Let me know how you get on.

[bertreeed]

Hi, You may need to go to a pulmonary hypertension specialist. I remember when I was getting short of breath, just walking a very short distance.

[Fick]

Hi bertreeed, it's not that i get breathlessness during any exertion.... Sometimes even I can walk up to 4 kilometres comfortably... At other times I get breathlessness even if I am just sitting in my room..... Further, to confirm pulmonary hypertension,, one has to do cardiac catheterization only..... except that I had done all types cardiac evaluation which are normal.........