Case Report. Voltage gated potassium channels ANA-dysautonomia-IVIG

[ChookityPop]

Found this a while ago regarding voltage gated potassium channels ANAs. Have you guys tested for this?

Here's a detailed case report from Norway on a woman with Sjogren's, dysautonomia and involuntary muscle twitches who was diagnosed with malingering/somatization for years, when she actually had a treatable autoimmune disease that responded well to IVIG: www.hindawi.com/journals/crinm/2020/3579419.
If you have unexplained involuntary muscle twitches associated with dysautonomia, we encourage you to see a neurologist and ask them about screening you for voltage gated potassium channel antibodies (VGKC antibodies) and other causes of nerve hyperexcitablity. These antibodies are seen in a subset of people with POTS and other forms of dysautonomia, and they can contribute to involuntary muscle twitches, spams and stiffness. In some cases, these patients may respond well to immunotherapy.
At the bottom of the case report there is a Supplementary Materials file you can download, which includes three videos of the involuntary muscle twitches this patient was experiencing, one of which we have uploaded to our Facebook page.
We see videos like this posted on the Dysautonomia International support groups fairly often, with the patient asking "what is this?" If you see someone posting a muscle twitching video on a dysautonomia group, share this article with them and tell them about VGKC antibodies. This information might help the next patient get diagnosed faster than the poor lady in this article, who was told it was all in her head for years.


From a dysautonomia IN facebook post:

https://www.facebook.com/DysautonomiaInternational/posts/3102139749884883

 

[ChookityPop]

AND do any of you know of a lab that tests for this? Im located in Europe.

 

[Gingergrrl]

AND do any of you know of a lab that tests for this? Im located in Europe.

I am not sure about Europe but in the US, you can definitely test for this with Mayo Clinic's lab. It might be possible (if a doctor orders the test) for you to send the blood sample to Mayo with Fedex International overnight shipping. I did this from the US when I was sending blood sample to a lab in Germany (for other autoimmune tests). But with COVID and the bad weather, I don't know how fast it might get there?

There are several Mayo Panels that test for the VGKC autoantibodies and the one that I did was called PAVAL. It tests for many paraneoplastic autoantibodies in addition to the VGKC (potassium channel) Abs. I was negative for the VGKC Abs but positive for the VGCC (calcium channel) Abs.

 

[ChookityPop]

I am not sure about Europe but in the US, you can definitely test for this with Mayo Clinic's lab. It might be possible (if a doctor orders the test) for you to send the blood sample to Mayo with Fedex International overnight shipping. I did this from the US when I was sending blood sample to a lab in Germany (for other autoimmune tests). But with COVID and the bad weather, I don't know how fast it might get there?

There are several Mayo Panels that test for the VGKC autoantibodies and the one that I did was called PAVAL. It tests for many paraneoplastic autoantibodies in addition to the VGKC (potassium channel) Abs. I was negative for the VGKC Abs but positive for the VGCC (calcium channel) Abs.

Thank you! I sent them an email. Do you remember the cost ot the PAVAL panel? I want to see VGCC too.

Did you get any treatment or any help with the VGCC?

 

[kangaSue]

AND do any of you know of a lab that tests for this? Im located in Europe.

Several of the major pathology testing services in Australia can test for VGKC (and VGCC) antibodies, I would have thought that to be the case for countries elsewhere in the world with a similarly robust medical system.

If not, the Division of Clinical Neuroimmunology Service attached to one of Oxford University's hospitals in the UK (Immunology Laboratory at the Churchill Hospital, Headington, Oxford.) is an international referral centre that accepts blood samples for the testing of antibodies in neurological disorders.
https://www.ouh.nhs.uk/immunology/diagnostic-tests/neuroimmunology.aspx

 

[Gingergrrl]

Thank you! I sent them an email. Do you remember the cost ot the PAVAL panel? I want to see VGCC too.

It was covered by my former insurance (at the time that I did it) so I don't know what it would have cost without insurance.

Did you get any treatment or any help with the VGCC?

Yes, high dose IVIG and Rituximab.

 

[Gingergrrl]

Here's a detailed case report from Norway on a woman with Sjogren's, dysautonomia and involuntary muscle twitches who was diagnosed with malingering/ somatization for years, when she actually had a treatable autoimmune disease that responded well to IVIG: www.hindawi.com/journals/crinm/2020/3579419

I finally got a chance to read the study that you posted @ChookityPop and it is really interesting. I definitely had some similar experiences to the woman in the study (with some of my symptoms, testing & treatment).

I was curious though, what did the study mean by “double-negative VGKC-complex antibodies”? I know what the autoantibodies are but don’t understand what is meant by “double negative”?

 

[ChookityPop]

I finally got a chance to read the study that you posted @ChookityPop and it is really interesting. I definitely had some similar experiences to the woman in the study (with some of my symptoms, testing & treatment).

I was curious though, what did the study mean by “double-negative VGKC-complex antibodies”? I know what the autoantibodies are but don’t understand what is meant by “double negative”?

Yes, its very interesting!

I was wondering what double negative meant too..

 

[sometexan84]

I did the VGKC and VGCC (P/Q Type only) in this Quest panel - https://testdirectory.questdiagnostics.com/test/test-detail/91636/?cc=MASTER

Though I have yet to test these 2....

• VOCC L-type (Voltage Operated Calcium Channel)
• VGCC-N-Type

@kangaSue Thx! for the Oxford link. I wasn't aware of them

 

[Gingergrrl]

@sometexan84 Do you know what that study meant by “double negative VGKC antibodies”?

Also, what is “VOCC L-type (Voltage Operated Calcium Channel)”?

Edit: What I mean in my second question is: Are VOCC L-type the same as VGCC L-type? I didn’t think there was any commercial test for this outside of research (VGCC L-type). But maybe you are talking about something different?

 

[Zebra]

Hi, @Gingergrrl & @ChookityPop

I *think* what they mean when they say "double negative VGKC-complex antibodies," is that the patient did not have antibodies against CASPR2 or LGI1.

I believe CASPR2 and LGI1 antibodies comprise the "complex" in the term "VGKC-complex antibodies".

So, if the patient did not have antibodies to CASPR2 or LGI1, perhaps that would make it "double negative"?

That's my best guess! And, feel free to correct me!

I feel dumb asking this, but I don't understand how she was successfully diagnosed with this condition if she was "double negative"? I think I need to reread the article ....

As an aside: If I had a dollar for every doctor that told me my positive antibody test results were "false positives" and my negative antibody test results meant I had "seronegative autoimmunity" I could probably afford med school tuition! It begs the question: Why, doctor, are you ordering these objective blood tests if you are going to dismiss both positive & negative results?!?!?!?

 

[sometexan84]

As an aside: If I had a dollar for every doctor that told me my positive antibody test results were "false positives" and my negative antibody test results meant I had "seronegative autoimmunity" I could probably afford med school tuition! It begs the question: Why, doctor, are you ordering these objective blood tests if you are going to dismiss both positive & negative results?!?!?!?

Can I guess? Were these mostly male doctors?

One good thing about self-treatment. Not having to deal w/ this.

These do not sound like doctors you want..... unless they're right.... which I guess is impossible for me to know.

 

[Zebra]

Can I guess? Were these mostly male doctors?

Haven't had much to smile or laugh about lately, but your response, truly, made me LOL. Thanks for that!

 

[Gingergrrl]

I *think* what they mean when they say "double negative VGKC-complex antibodies," is that the patient did not have antibodies against CASPR2 or LGI1. I believe CASPR2 and LGI1 antibodies comprise the "complex" in the term "VGKC-complex antibodies". So, if the patient did not have antibodies to CASPR2 or LGI1, perhaps that would make it "double negative"? That's my best guess! And, feel free to correct me!

I have no idea and found that part of the article really confusing!

I feel dumb asking this, but I don't understand how she was successfully diagnosed with this condition if she was "double negative"? I think I need to reread the article ....

I agree and I was not able to understand that part either.

As an aside: If I had a dollar for every doctor that told me my positive antibody test results were "false positives" and my negative antibody test results meant I had "seronegative autoimmunity" I could probably afford med school tuition! It begs the question: Why, doctor, are you ordering these objective blood tests if you are going to dismiss both positive & negative results?!?!?!?

Which autoantibodies did you test positive for that a doctor told you was a "false positive"? And also, which auto-abs were you negative for but the doctor told you that you had seronegative autoimmunity?

 

[Zebra]

We see videos like this posted on the Dysautonomia International support groups fairly often, with the patient asking "what is this?" If you see someone posting a muscle twitching video on a dysautonomia group, share this article with them and tell them about VGKC antibodies. This information might help the next patient get diagnosed faster than the poor lady in this article, who was told it was all in her head for years.

Hi, @ChookityPop

I am so grateful to you for posting this information. I have been trying to find a compelling way to ask my neuro or primary care doc for LGI-1 and Caspr2 antibody testing, and the information you shared did the trick.

I sent my neuro the link to the Dysautonomia International post, the video, and the medical journal article.

I have medically-verified, wide-spread dysautonomia; video of similar muscle twitching in my feet and legs; and a record of a recent trip to the doc for a visible muscle spasm in my neck and face, so she agreed to order the tests! I am so lucky to have such an open-minded neuro.

However, I knew that asking for an extensive autoimmune encephalopathy panel from Mayo Clinic would be a "hard sell," so I did some digging and learned that, in the US, Quest Diagnostics offers these two antibodies as standalone tests. If you take your lab slip to Quest they will send your blood to Athena Diagnostics, which specializes in neurological testing of all kinds, and happens to be owned by Quest!

Because my illness initially presented with severe upper GI dysmotility and rapid 15 pound weight loss, my neuro also ordered the anti-DPPX antibody, which is referred to as a "sub-unit" of the potassium channel.

I am trying to keep my expectations very low, but if something does come back positive, I will report back here.

I won't be able to field any questions from PR members at this time, as my 86-year-old mom is in the hospital for the third time this year, and I need to save up every single ounce of mental and physical energy to help with her medical care, which entails fighting against her HMO "doctors" every step of the way.

Thanks again @ChookityPop!

 

[Gingergrrl]

I have been trying to find a compelling way to ask my neuro or primary care doc for LGI-1 and Caspr2 antibody testing, and the information you shared did the trick.

Because my illness initially presented with severe upper GI dysmotility and rapid 15 pound weight loss, my neuro also ordered the anti-DPPX antibody, which is referred to as a "sub-unit" of the potassium channel.

This is great news. Did your doctor also order tests for VGKC and VGCC autoantibodies?

I won't be able to field any questions from PR members at this time, as my 86-year-old mom is in the hospital for the third time this year, and I need to save up every single ounce of mental and physical energy to help with her medical care, which entails fighting against her HMO "doctors" every step of the way.

I am so sorry to hear about your mom and do not worry about answering my question above! I'll leave it in case you return to PR in the future but no worries and best wishes in fighting your mom's insurance.

 

[kangaSue]

However, I knew that asking for an extensive autoimmune encephalopathy panel from Mayo Clinic would be a "hard sell," so I did some digging and learned that, in the US, Quest Diagnostics offers these two antibodies as standalone tests. If you take your lab slip to Quest they will send your blood to Athena Diagnostics, which specializes in neurological testing of all kinds, and happens to be owned by Quest!

The Steven Vernino Lab at UT Southwestern also does this sort of antibody testing. Dr Vernino also recommends using Athena Diagnostics as an alternative to his lab or Mayo.
https://www.utsouthwestern.edu/labs/vernino/

 

[Gingergrrl]

The Steven Vernino Lab at UT Southwestern also does this sort of antibody testing. Dr Vernino also recommends using Athena Diagnostics as an alternative to his lab or Mayo.
https://www.utsouthwestern.edu/labs/vernino/

That is an excellent link and I tried to contact Dr. Vernino back in 2016 when I first learned that I had the VGCC autoantibodies. I never heard back from his lab at that time and I didn't pursue it once I was able to get the treatments that I needed locally. But I remain so impressed with his work that I really have no words!

 

[ChookityPop]

If one has voltage gated potassium channel antibodies, would it help to supplement with potassium?

 

[kangaSue]

If one has voltage gated potassium channel antibodies, would it help to supplement with potassium?

I'm no expert but I would say the answer is no because the antibodies don't often affect the potassium channel subunits, more the case to be 'complexed with neuronal proteins', whatever that happens to mean;
https://nnjournal.net/article/view/1357