Autoimmune

Posted by brooke @bhoudeshell, Mar 24 7:32pm

Hi everyone!! I have been checked for Lupus and it was negative but I have the symptoms painful/stiff joints, fatigue, rashes, frequent infections, bruising, hives, etc. I also have been experiencing worsening tremors. I am diagnosed with complicated Hydronephrosis, POTS, Wolff Parkinson White, Cubital tunnel syndrome and Endometriosis. Every doctor I go to says I have an autoimmune disease but no one can tell me what. I have a low C1Q and no one will explain what that means to me. I also have a prolonged PTT and PTT-LA. I did a PTEM test through Mayo and it said I had dense granule platelets. I have always been anemic/slightly anemic. Most of my other blood work is relatively normal. I did have an abnormal smudge cell test which was never explained to me. Does anyone have any idea or any tests that I should get done to help me get answers? Thank you!!

Interested in more discussions like this? Go to the Autoimmune Diseases Support Group.

dlydailyhope | @dlydailyhope | Mar 25 7:06am

@bhoudeshell
How is your hydronephphrosis being treated? POTS? Wolff-Parkinson-White?

There seems to be a connection of low C1Q levels and autoimmunity. Are you working with a rheumatologist, immunologist, geneticist, cardiologist, vascular specialist and hematologist? It seems you may have some inherited issues affecting your kidneys, heart, blood, immune system, etc. You need a team of people to work with you on specialized care and to explain your test results, do further testing, offer treatment options, etc. You are dealing with a lot and would benefit from mental health support as you navigate your healthcare.

1. https://www.mayoclinic.org/diseases-conditions/wolff-parkinson-white-syndrome/symptoms-causes/syc-20354626

2. https://www.mayoclinic.org/diseases-conditions/hydronephrosis/symptoms-causes/syc-20575276

3. https://pmc.ncbi.nlm.nih.gov/articles/PMC5186770/

4. https://journals.aai.org/jimmunol/article/168/5/2538/70727/C1q-Deficiency-and-Autoimmunity-The-Effects-of

5. https://biologyinsights.com/c1q-complement-and-its-impact-on-immunity-and-inflammation/

6. https://www.mayoclinicproceedings.org/article/S0025-6196(11)61313-X/fulltext

7. https://ashpublications.org/hematology/article/2005/1/396/19269/Inherited-Platelet-Disorders

brooke | @bhoudeshell | Mar 25 6:02pm

In reply to @dlydailyhope "@bhoudeshell How is your hydronephphrosis being treated? POTS? Wolff-Parkinson-White? There seems to be a connection of..." + (show)

My hydronephrosis is being monitored currently. In 2022, I had surgery which showed a malrotated kidney that was in the wrong place with a vein wrapped around it (not nutcracker syndrome), and a kinked ureter. They fixed all of that but my hydronephrosis is getting worse again and I getting utis/kidney infections which can only be treated through iv antibiotics due to being allergic to all oral antibiotics - not sure how I randomly started getting reactions to oral antibiotics in the past 2-3 years. For POTS and WPW - I take diltiazem, beta blockers dropped my bp too much. I also almost got an ablation but the risks outweighed the cons. The WPW is more of a leak in my av node. I see cardiology, rheumatology, hematology, neurology, and soon to be immunologist. I am debating on going to see someone at Johns Hopkins or Mayo but I worry about the waitlist. I just want to figure out what’s wrong and feel better, everyone is stumped on figuring out what’s wrong with me. Do you have an ideal blood tests to help me find some answers? Also, thank you so much for your response

brooke | @bhoudeshell | Mar 25 6:03pm

In reply to @dlydailyhope "@bhoudeshell How is your hydronephphrosis being treated? POTS? Wolff-Parkinson-White? There seems to be a connection of..." + (show)

Also everyone in my family is healthy

Becky, Volunteer Mentor | @becsbuddy | Mar 25 9:24pm

@bhoudeshell Welcome, Brooke. Your posting above is like so many on Mayo Clinic Connect. Autoimmune diseases are very hard to diagnose because they are very similar. It can take years and several doctors before a diagnosis is reached. My AI disease was very gastric with major vomiting everyday. I was in the ER several times a week and doctors simply said “you’re dehydrated.” I finally begged one of my PCP’s office mates it give me a referral for an MRI. Then, none of the neurologists could figure out what they were looking at. My husband called the university hospital in the next town. The doctor there knew exactly what it was and I began treatment as soon as they could set things in motion. I’m better today! YEA!!
Here is one discussion group that worked with another woman seeking a diagnosis. https://connect.mayoclinic.org/discussion/seeking-diagnosis/
The members will all come to your aid soon