anti-amphiphysin antibodies, stiff-person syndrome, breast cancer‏

• By NORD-RN
• Posted July 21, 2008 at 1:00 pm

Dear RT,

We are very sorry to hear about the awful ordeal that your wife has been going through.

Stiff person syndrome is considered an autoimmune disorder that can occur with or without a malignancy. From what you've written, it sounds like your wife has the form of stiff person syndrome that is associated specifically with a breast malignancy. The broader name for her disorder would be Paraneoplastic Neurological Syndrome (PNS).

PNS, which is rare, occurs when a malignant tumor is present. The body tries to fight the tumor by mounting an immune response (i.e. producing specific auto-antibodies ). That immune response causes the very miserable symptoms of PNS.

The typical scenario is that unusual neurological symptoms occur and a medical work-up is done. Sometimes, during the course of the work-up, a malignancy is discovered, and then it becomes apparent that the neurological symptoms are likely caused by PNS. However, sometimes the tumor is still so miniscule that it is not easily found.

Often, the PNS is diagnosed first, which then leads to the discovery of an occult (hidden) malignancy that needs treatment.

The auto-antibody that has been found in your wife is specifically associated with the presence of an active breast malignancy.

The mainstay of treating PNS-associated stiff person syndrome (or any other manifestations of PNS) is to (1) eradicate the tumor itself (surgery, chemotherapy, etc) and (2) to treat the terrible symptoms. It sounds like this is what is being done for your wife.

While we can't answer your specific questions, we can advise that treating the tumor (eradicating it) can often lead to marked improvement, and sometimes complete resolution, of the PNS.

NORD has a report on Paraneoplastic Neurologic Syndrome which we can provide to you. It gives an in-depth overview of the condition. If you'd like to have a copy sent to you, please either call us directly (1-800-411-1222, my extension is 246) or email me at rn@rarediseases.org.

In the meantime, the physician who wrote our PNS report, and who NORD feels is The Expert in the USA on paraneoplastic neurologic syndromes, is
Dr. Josep Dalmau (MD/PhD). He is Director of the Laboratory of Neuro-oncology and Paraneoplastic Disorders at the University of Pennsylvania School of Medicine. Dr. Dalmau can be reached at 215-746-4707 if you would like to contact him about your wife.

We hope that your wife's condition begins to dramatically improve with treatment of her breast tumor. Please don't hesitate to contact us if you think that we can help.

Sincerely,

Stefanie Putkowski, RN

NORD
Stefanie Putk

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