Question
Hi Amelia! 9 months ago I was diagnosed with fibromyalgia, but subsequent unanswered symptoms including sclerodactyl, 'tight glove sensations' on both hands, skin thickening on forehead, dramatic recent weight loss (10 kg in 4 months) and dysphagia, regurgitation, heart palpitations,low iron & ferritin levels etc have led some of my doctors to believe I am developing CREST, MCTD or scleroderma. I had a low positive ANA blood test 14 months ago showing a nucleolar pattern, I also have a syrinx in my spinal cord from T5 to T8 (I have been advised by my neurologist that this cannot cause the above symptoms). I am having a iron drip this week for low iron/ ferritin levels. My rheumatologist is at a loss to explain my symptoms & is basically blowing me off & telling me not to worry...but I am worried! I have been referred onto a professor who specializes in connective tissue disease disorders. Do you think I am pursuing the right course for a definite diagnosis and course of action? I am getting very frustrated with being on the medical treadmill!!! Thanks Amelia!!

Answer
Angie, yes, you are pursuing the right course.  Sometimes it takes someone especially experienced with connective tissue disease to sort out the symptoms.

"CREST" is actually an old name for limited scleroderma, which is one of the systemic forms of the disease.  The other systemic form is diffuse.  The only thing "limited" about limited scleroderma is the skin involvement, usually just the hands and face.  Someone with limited disease can still get internal organ complications, like effects to the gastrointestinal system that can cause weight loss.

One of the main symptoms of scleroderma you don't mention is Raynaud's phenomenon, where fingers and toes turn white, then blue in response to cold, and red when they warm back up.  Something like 95-98% of systemic scleroderma patients have Raynaud's.

I know your frustration, but hang in there.  When we become one of the millions of people with chronic disease, we have to become our own advocate for proper diagnosis and treatment.

If you are diagnosed with scleroderma, I urge you to contact the scleroderma organization in your area/country for more information about the disease and how to manage and cope with your case.

Please contact me again if I can help.  Good luck.