Discussions By Condition: I cannot get a diagnosis.

Rheumatologist interested in a mystery?

Posted In: I cannot get a diagnosis. 5 Replies
  • Posted By: Anonymous
  • October 19, 2010
  • 04:12 AM

38 y/o female G-3, P-2 ages 4 and 8
Problem most noted 2 years ago
Episodic symptoms of: Severe fatigue, muscle weakness most pronounced in R upper thigh and knee, migratory joint pain, migratory muscle pain, memory problems, raynauds phen in R index finger only, malaise, bladder "muscle weakness" as in having to force urine out, constipation, dizziness, hot flashes.
Episodes becoming more frequent at least weekly, lasting 2-10 days at a time. Increasing prednisone relieves symptoms immediately. 10 mg daily keeps symptoms under control. Symptoms are exacerbated by physical activity, mental stress, and mostly by heat, (even a hot shower) Ex: A 2 hour shopping spree can put me in bed for 2-3 days. I cannot take a warm shower and continue with getting ready b/c I have to lie down. I have started taking my showers at night only so I can go to bed afterwards.

Current meds:
Cymbalta 60mg/day- muscle pain is not tolerable without it
gabapentin 200mg TID " "
Plaquenil 200mg BID- muscle pain, raynauds and memory problems get much worse if I forget or try to stop taking
Prednisone 10mg daily to keep symptoms under best control. Trying to taper off now at 7mg.
Vit D 50,000 units weekly

I have had extensive labs at multiple local hospitals, a university teaching hospital, and most recently at a prominent diagnostic hospital with the only interesting results being ANA of 6.8, CRP of 15.9, neg for sclero, sjogrens, lupus etc...

Neuro checked out OK, Cardiac OK except for concentric remodeling of L ventricle (?), Coags OK, MRI of brain neg x3

I cannot get a committed dx from any of my 3 rheumatologists, I get waste basket guesses only. (undiff. connective tissue disease, fibro, CFS)

I have lost my full time job, about to loose my part time job, I cannot take care of my children, my home or my husband properly and I am on the verge of a divorce due to this. Please help me if you can this is ruining my life.

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5 Replies:

  • Has anyone considered Lupus? The ANA would seem to point them in that direction. There are some other autoimmune disorders that may be worth looking into as well, based on your response to the prednisone.
    gregtfish 67 Replies
    • October 19, 2010
    • 04:22 PM
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  • Has anyone considered Lupus? The ANA would seem to point them in that direction. There are some other autoimmune disorders that may be worth looking into as well, based on your response to the prednisone.Thanks so much for your reply. Lupus has been considered but because lupus anti-DNA was neg. and also cardiolipin (?) is also neg. They have all said they don't think so. Also sjogrens has been considered but further testing for that was also negative. Are there any other auto-immune diseases that you would consider. I think most of the common ones have been considered but I would be interested in any other ideas or possibilities. I need to find that one Doc that says "ahh haa, I have seen this before" Thanks for your help.
    Anonymous 42789 Replies
    • October 21, 2010
    • 06:36 PM
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  • 38 y/o female G-3, P-2 ages 4 and 8Problem most noted 2 years agoEpisodic symptoms of: Severe fatigue, muscle weakness most pronounced in R upper thigh and knee, migratory joint pain, migratory muscle pain, memory problems, raynauds phen in R index finger only, malaise, bladder "muscle weakness" as in having to force urine out, constipation, dizziness, hot flashes.Episodes becoming more frequent at least weekly, lasting 2-10 days at a time. Increasing prednisone relieves symptoms immediately. 10 mg daily keeps symptoms under control. Symptoms are exacerbated by physical activity, mental stress, and mostly by heat, (even a hot shower) Ex: A 2 hour shopping spree can put me in bed for 2-3 days. I cannot take a warm shower and continue with getting ready b/c I have to lie down. I have started taking my showers at night only so I can go to bed afterwards.Current meds:Cymbalta 60mg/day- muscle pain is not tolerable without itgabapentin 200mg TID " "Plaquenil 200mg BID- muscle pain, raynauds and memory problems get much worse if I forget or try to stop takingPrednisone 10mg daily to keep symptoms under best control. Trying to taper off now at 7mg.Vit D 50,000 units weeklyI have had extensive labs at multiple local hospitals, a university teaching hospital, and most recently at a prominent diagnostic hospital with the only interesting results being ANA of 6.8, CRP of 15.9, neg for sclero, sjogrens, lupus etc...Neuro checked out OK, Cardiac OK except for concentric remodeling of L ventricle (?), Coags OK, MRI of brain neg x3I cannot get a committed dx from any of my 3 rheumatologists, I get waste basket guesses only. (undiff. connective tissue disease, fibro, CFS)I have lost my full time job, about to loose my part time job, I cannot take care of my children, my home or my husband properly and I am on the verge of a divorce due to this. Please help me if you can this is ruining my life.Ok, Fibromyalgia MIGHT be a waste basket, POSSIBLY so is CFS...However, connective tissue disease, MCTD, whatever you'd like to call it, is not.The classic immune-related connective tissue diseases include systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymyositis, and dermatomyositis. Each of these diseases has a characteristic presentation with typical clinical findings that doctors can recognize during an examination. Each also has characteristic blood test abnormalities and abnormal antibody patterns. However, each of these diseases can evolve slowly or rapidly from very subtle abnormalities before demonstrating the classic features that help in the diagnosis. When these conditions have not developed the classic features of a particular disease, doctors will often refer to the condition as "undifferentiated connective tissue disease." This implies that the characteristic features that are used to define the classic connective tissue disease are not present, but some symptoms or signs of connective disease exist. Individuals with undifferentiated connective tissue disease may never develop a fully definable condition or they may eventually develop a classic connective tissue disease.Do you know the requirements for the diagnosis of undifferentiated connective tissue disease?True mixed connective tissue disease is diagnosed when patients demonstrate the clinical features (which you certainly do) of overlap illnesses and have high amounts of the antibodies ANA and anti-RNP in their blood (you didn't mention anti-RNP, so unless it is positive, you wouldn't TRULY even make the diagnostic requirements for MCTD, but that's beside the point). Mixed connective tissue disease patients do not typically have antibodies such as dsDNA, Scl70, which are particularly common in systemic lupus erythematosus and scleroderma respectively.So to conclude...Mixed connective tissue disease, as first described in 1972, is "classically" considered as an "overlap" of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis. Patients with this pattern illness have features of each of these three diseases. They also typically have very high quantities of antinuclear antibodies (ANAs) and antibodies to ribonucleoprotein (anti-RNP) detectable in their blood. The symptoms of many of these patients eventually evolve to become dominated by features of one of three component illnesses, most commonly scleroderma.To be honest, upon reviewing symptoms for possibilities, it seems this diagnosis fits you best.
    keanhe 86 Replies
    • October 21, 2010
    • 10:20 PM
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  • i had very much the same and after 8 jeers i made the doctor give me eltroxin for thyroid even if my thyroid was border line now i am back to been alivei was suposed to have had lupus ,polymyositis and on Methotrexate for 6 months then a nother doctor said scleroderma,,every doctor i whent to said i had somrthing diffrent and only after going to a femail doctor i am back alive againthe pain i lived with i did not want to go out did not want to see people and so the list goes on.as i said my thyriod was only border line but the boddy needed those hormones
    Anonymous 42789 Replies
    • October 22, 2010
    • 06:19 AM
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  • Have you had an MRI or CT of your brain and cervical area? Has anyone ever mentioned Chiari Malformation? Chiari Malformation has many different symptoms and levels of severity. Basically the tonsils of the cerebellum decend with the brain stem and spinal cord into the upper part of the spine. This impacts the cerebralspinal fluid flow and the intercranial pressure. There are also areas that form in the spinal column called syrinx (?sp). When the tonsils decend through the foramen magnum (means "big hole") They reduce the amount of room that allows circulation of blood and fluid from the brain to the body. This is a very rare disorder. I have been fighting over 10 years for diagnosis and correct treatment.
    Anonymous 42789 Replies
    • October 23, 2010
    • 03:19 PM
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