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Friday, December 6, 2013
Am I At Risk For Sarcoidosis?
My mother died at 42 from complications of sarcoidosis of the lungs, my sister is in remission from sarcoidosis involving the lungs. Appoximately 4 years ago I was diagnosed with sudden onset hearing loss with hearing returning within 1 month. I have had several MRI`s in the past that showed non specific white matter legions. My symptoms are motion sickness, periodic left eye pain, slight chest pain which I catagorized as heart burn, which happens about once a week and only lasts for about 30 seconds or so. I excercise about 2 hrs per day, 5 days a week with no problem although past blood work has consistently come back showing dehydration which I attribute to the amount of cardio, even though I consume about 15 cups of water a day. Recent MRI study findings are Minor scattered FLAIR signal hyperintensities unchanged since prior exam in 2004 which is a non specific finding. Low T1 signal in the osseous structure is a non specific finding. This may be related to a marrow reactive process such as anemia among other possibilities. Clinical correlation is suggested. Could you explain in laymen`s terms what these findings mean? With a family history of sarcoidosis would I be at higher risk for neuro sarcoidosis.
Sarcoidosis occasionally does run in families. The reason for this is not clear, but at one study showed a mutation of a specific gene that accounted for many cases of sarcoidosis in Germany. However, the same gene mutation does not explain sarcoidosis in most other populations. Thus, we (sarcoidosis doctors and researchers) believe that multiple genes may contribute to sarcoidosis that is inherited (runs in families).
Some of the symptoms that you describe, including the need to drink a lot of water to prevent dehydration (called diabetes insipidis), can be caused by neurosarcoidosis. The diagnosis if neurosarcoidosis can be very difficult. The best test is a biopsy, which implies the need for surgery to obtain a sample of brain tissue. This is obviously a risky procedure.
Other techniques that are useful include a spinal tap (not as bad as it sounds) and imaging studies, including MRI. MRI findings of sarcoidosis may include changes in the white matter (which is like the wiring of the brain, not the thinking part) on T2 weighted images or involvement of the base of the brain, which can cause diabetes insipidis (loss of water in the urine causing dehydration). Special techniques are needed to optimize the visualization of the base of the brain.There are other possible causes of abnormal MRI findings and neurologic symptoms, but sarcoidosis certainly should be considered, especially since it runs in your family. In summary, you need to go back to your doctors to make sure they have considered these possibilities. Sincerely,
Elliott D Crouser, MD
Associate Professor of Pulmonary, Allergy, Critical Care & Sleep Medicine
College of Medicine
The Ohio State University