Thursday, February 7, 2013

Waiting, waiting, waiting...

Waiting is hard. But, that's life, right? I am currently waiting for the results of the genetic testing for periodic fever syndromes. I just checked the consent form and apparently the turn around for the results can be up to 8-10 weeks. That means, if the results were sent around January 10 or 11 when I had my appointment, they probably would have made it to Maryland by maybe January 14 or so, which means...I might not get the results until almost April. Ugh. I thought waiting a week for bone marrow biopsy results was too long!

I have the note from my appointment a couple week ago with Dr. M, my infectious disease specialist. I feel like I understand a little more what he is thinking for me. Here is the summary at the end...

Mrs. M is a 29-year-old woman who has been experiencing intermittent fevers. She has associated arthalgias, but no overt arthritis has ever been documented. Evaluations of the fevers noted the detection of a IgG lambda spike that has been slowly increasing over this time. Multiple evaluations for common, seasonal, and uncommon infections as well as for rheumatologic diseases has been unrevealing. She has no constitutional symptoms of rashes during episodes and has not lost weight significantly.

The pattern she reports is unlikely to be caused by any infectious disease agent, but she gives a good story for experiencing a periodic fever syndrome. Although most of them are genetic diseases, they can present in adulthood. She has no history of recurrent serositis or ethnic background to suspect familial Mediterranean fever, but I wonder if she may have Hibernian Fever/TRAPS, relatively frequent in patients of Irish/English ascent or hyper IgD syndrome (MVK deficiency), or other related disorder.

In her particular case, it is hard to ignore the presence of the IgG lambda paraprotein.. She could indeed have 2 separate diseases. Alternatively, I wonder even though the bone marrow biopsy results are suggestive of smoldering myeloma, she may have a reactive MGUS in response to her periodic fevers and diagnosis and treatment of the appropriate illness may resolve the MGUS, as we have seen in patients with chronic infections, such as HIV. Another possibility is that the paraprotein is binding or modifying other proteins or receptors involved in temperature regulation and that it may actually be triggering the periodic fevers.

We discussed all of the above with her and her husband. We did the labs noted above. She's HIV negative. In addition, we sent a blood sample to genedx to test for common periodic fever syndrome mutations. I also offered them to contact Dr. K at NIH, who would be in the best position to study her case in case her genedx testing is negative. She agreed for me to contact him.

Waiting... Also, it feels a bit strange to not be going back to Dana-Farber until April. I do have our trip to the National Institute of Health for the Natural History Study of MGUS and SMM coming up in a couple weeks, however. After that I will hopefully be on a little mini-vacation from doctors! Woohoo!

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