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Hello, my mother passed away from systemic scleroderma. I wanted to ask what kind of tests I need to do for myself and what kind of doctor should I visit, is it a dermatologist?

 

Thanks everyone in advance.

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No, you need to see a rheumatologist and have an ANA test done. A full set of blood tests might be helpful if you can.

 

There is only a very small chance of heredity and you shouldn't worry too much unless you have symptoms.

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6 hours ago, dimarzio said:

No, you need to see a rheumatologist and have an ANA test done. A full set of blood tests might be helpful if you can.

 

There is only a very small chance of heredity and you shouldn't worry too much unless you have symptoms.

 

 

Thank you very much for your reply, dimarzio.

I've recently had a blood test with my primary doctor. Would that show any as suspicious results? Or I need specifically ANA blood test?

 

Thank you again

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Hi Vladlenamo,

 

Welcome to these forums!

 

I'm very sorry to hear about the loss of your mother. There are several types of scleroderma that are known to run in families and researchers have found some genes associated with the development of the disease. This does not mean, however, that scleroderma is a "genetic illness" per se. They estimate that it is genetic in only 2% of scleroderma patients. However, there are some genes that set the stage for the development of autoimmune disease in general, and scleroderma in particular.  There is about a 30% chance that children from parents with any autoimmune disease might eventually develop any autoimmune disease or autoantibodies, or, more commonly, just a symptom or two of any autoimmune disease. I've included a link to our medical page on Causes of Scleroderma: Genetics, which I hope you'll find helpful and informative.

 

Please note that I have no medical training (apart from a now out of date first aid certificate). Although blood tests can be a useful diagnostic tool, they are only a small factor in the diagnostic process, as it is perfectly possible to have positive antibodies and yet never go on to develop full blown scleroderma and vice versa. Far more important are any clinical signs and symptoms of the disease and as you haven't stated whether you've had any reason to believe that you do have scleroderma (apart from your mother) I would advise that if you're not actually experiencing any particular symptoms,  you should simply monitor the situation to see if anything does develop (meanwhile getting on with your life as best you can.) Should you find yourself developing any positive symptoms, then that would be the time to consult a listed scleroderma expert.

 

Kind regards,

 

 

 

 


Jo Frowde

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