Posted 8/13/2008 3:17 PM (GMT -7)
Lots of tests, some of them multiple times. The diagnosis is more a combination of symptoms and lab work. You can have this disease and labs can be negative. You can even have a very active flare and labs can be negative.
Tests I had in the beginning and later on:
Ultrasound of abdomen
MRI cervical spine and lower extremities
CT scans abdomen and pelvis
liver function tests
Bone marrow biopsy
Muscle biopsy (this is usually the definitive test for any of the myositis diseases but not always)
Endoscopy (several times) with biopsies
Colonoscopy with biopsies
Pulmonary lung function tests
Ultrasound of lungs
Right heart catherization (actually goes into the lungs)
Countless blood tests
Bone density scan (after taking prednisone for a year)
CPK (same as CK) blood test (tests for muscle breakdown)
SED blood test (indicates inflammatory processes but does not give a specific diagnosis)
Anticardiolipin antibody tests
ANA analyzer panel
Beta 2 glycoprotein I autoantibodies
Video fluoroscopy swallow test (4 times)
I continue to get routine blood tests every 3 months and see a rheumy as often.
CBC with differential
Sed Rate (ESR)
Comp metabolic panel
Hope this helps. You might not need all these tests but many of them should be done to confirm a diagnosis. Some of these tests were done after I developed problems like Barretts and dysphagia (swallowing) so they might not be needed for you. Most people can lead a fairly normal life once diagnosed and treated but the problem is that everyone develops different symptoms and severity and response to treatment. My case was not only extreme but complicated and I had/have other conditions as a result that I have not mentioned. Most mctd cases are much milder than mine but still need skilled medical help and aggressive treatment early on to get your immune system under control.
Be aware of any muscle weakness or swallowing problems as they are an indication of a worsening condition. Typical symptoms are difficulty getting out of chairs, going up stairs, raising your hands over your head, etc. Your GI symptoms are very common and I had lots and still do not have a normal gi tract. Just want to avoid cancer and the rest is tolerable. Once you get a diagnosis you might want to see a GI doctor. I had 12 docs at one point and still see several to make sure I get the best care.
Hope this helps but it sounds like you need to find an experienced rheumy to get a second opinion.
Mixed connective tissue disease (systemic lupus, scleroderma, polymyositis), Raynauds phenomena, Hypertension, Barrett's esophagus.
Meds: prednisone 5mg, 50mg imuran, Lotrel 40/5mg, maxide 37.5/25mg, folic acid, potassium, aciphex 20mg, multi vitamins.
Maintain your optimism and you can beat the odds.
"Although the world is full of suffering, it is also full of the overcoming of it." Helen Keller