90 Days and still no diagnosis. Maybe MeFi can help?
September 11, 2013 5:52 PM   Subscribe

My wife has been experiencing fairly severe edema and pain for 3 months, and proteinuria for about the last month. The doctors are all stumped. On the long shot that somebody here has experienced something similar...

In early June my wife work up one morning 20 lbs. heavier than when she went to bed. Her lower body was severely swollen and her legs, feet, and hands were in extreme pain. She is mid 40s and has been Type I diabetic and hypothyroid since her teens. She has never had an A1C over 6.0 in her life, and her thyroid levels are normal. They put her on a diuretic immediately and she is still very swollen, although it at least reduced the swelling at her feet enough to allow her to wear shoes.

Since then we have been to just about every specialist in town. She has had probably 20+ vials of blood drawn. We still don't have an answer on what is causing her symptoms.

Her endocrinologist has ruled out diabetic neuropathology or anything else endocrine related. Her thyroid has been checked at least twice in the 90 days and the adrenal panel was normal too. Her internist sent her to a neurologist anyway and he confirmed the endocrinologist's opinion. It's not nervous system related. A Lyme's disease test was also negative. All the inflammatory related blood tests that would point to an allergic reaction are also negative.

The rheumatologist diagnosed her with poly-arthritis and prescribed an anti-inflammatory. Every other doctor since has raised an eyebrow at that diagnosis, but since the drugs are helping with the pain (a little) they are letting it go until they figure out what else is going on with her.

She has had a vascular ultrasound and the edema is not the result of vascular back flow.

Her mother died young of heart disease and because of that they took a long careful look at her heart. This is not a cardiac issue.

The proteinuria didn't show up in a urine test until about a month ago. It took 3 weeks to get into a nephralogist and that appointment was last week. Initially that doctor was sure we had finally come to the right place and expected to help her when his battery of tests came back. They called today - other than the protein in the urine there is no other sign of kidney problems. He wants to send her to an Internal medicine specialist at the University hospital 90 miles away. She has already been to two internists and at this point I'm skeptical that another internist 90 miles away is going to have a brilliant insight that 6 or 7 other doctors have missed. We are going to take the appointment, I just have zero expectations that it will be useful.

To add insult to injury here, the pain and swelling have ramped back up as of yesterday. The nephralogist wants to double the dose of the diuretic, which my wife is going to discuss with her internist tomorrow.

Anybody have an idea of what our next move should be? Beyond the constant pain, the mental stress here is starting to take a toll on her too.

If you have questions or want more info I'll answer via Mefi Mail. Anonymous for obvious reasons, but I'm not that concerned about a few MeFites knowing who I am.
posted by anonymous to Health & Fitness (6 answers total) 4 users marked this as a favorite
 
It sounds like it might be membranous nephropathy.
posted by xenophile at 6:05 PM on September 11, 2013


Is your wife having any sort of menstrual irregularities, now or before the onset of the edema? I had sudden onset edema (although not to the extent of your wife). My docs also ruled out diabetes, and other endocrine issues. I was also having crazy long periods, and kept asking my pc (who also did my gyn care) if it could be related. She didn't think so, but I eventually begged for an ultrasound, and she was proven wrong. I had a large fibroid tumor positioned so that it was exerting pressure on the major blood vessels going to my legs, causing poor circulation and edema. It was also putting major stress on my ureters, which was in turn stressing my kidneys, and I had elevated creatinine levels.

It took 4 months of escalating symptoms before I was diagnosed. I then had some crazy complications during treatment that nearly killed me. Feel free to memail me if you want more info.
posted by kimdog at 6:27 PM on September 11, 2013 [2 favorites]


If you're ready for a really long shot for a rare disease try amyloidosis. It can present with proteinuria and edema.
I hope you find an answer quickly.
posted by SLC Mom at 7:00 PM on September 11, 2013


I'm sure this has been tested, but I missed it if you mentioned it- they did a pregnancy test, right? Swollen limbs and proteinauria are classic per-eclamptic symptoms.
posted by brevator at 7:04 PM on September 11, 2013 [2 favorites]


I had a friend who had four negative Lyme disease tests before finally being diagnosed with Lyme disease. I have no idea if they are commonly false-negative, but it was crazy to see her go through that.
posted by peanut_mcgillicuty at 8:49 PM on September 11, 2013 [1 favorite]


First, I am so sorry for what your wife and you going through.

Second, get second opinions. Specialists do not know everything within their subfields. A second opinion will give you fresh perspective And some will always be better than others. I was not there with your doctors, but if anyone’s manner seemed even a little bit dismissive, find someone new immediately. Two very serious suggestions:
  1. Look for doctors who are women; from my experience, male doctors are more likely to not listen closely and be dismissive when they do not immediately know the answer, especially if the patient is a woman.
  2. Find research doctors, they will almost certainly be more up to date on new literature and have greater interests in figuring out the odd cases.
Third, record everything, even if it is just a notebook of when appointments happened. Keep bullet-pointed single-line lists of all the major events and symptoms, take multiple copies when seeing a new doctor. They can read more quickly than listen, so this can help you get your message across without the doctor cutting you off 60 seconds into describing her symptoms. Also, get your own copies of all her records as soon as possible. Auxiliary staff in medicine can be as mediocre as some are in any other field. So records requests are often easily lost in the shuffle for months.

Finally—and I hope this isn’t true—you both may have to steal yourselves for the long haul. If something seems to be taking longer than it should (such as scheduling another test), call and call again until it gets figured out. I’ve had scheduling requests take months because a doctor’s assistants didn’t bother reading the whole fax to figure out they were sending the wrong documents. Further, once the obvious stuff has been eliminated, only the rare ones are left and those diagnoses can take years.

I’m sorry for being a downer. Memail me if you have questions. May the diagnosis and its solution come swiftly ♥
posted by thebestsophist at 11:56 AM on September 12, 2013


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