Possible Misdiagnosis?

[winginit222]

Hello everyone,

This is about my girlfriend...she was diagnosed at 13 (around 2003) of having Crohns (by two different doctors) after she developed an anal fistula. At the time she only remembers having pain from the fistula area when she had a bowel movement and pain from being constipated due to not wanting to go. After the diagnosis, they started her on medication which included a laxative amongst others (she doesn't remember the names). Shortly after that she stopped taking the medication alltogether due to embarrassment and also denial that she even had it.

Flash forward to earlier this year she starts to have strong pain and burning behind her breastbone which is relieved by vomiting. Went to the doctor who did an EKG and discovered she had tachycardia and sent her to the hospital. Heart came out fine but found out she was anemic. Referred to a GI doctor.

Went to the GI doctor and told her symptoms and he was about to treat for acid reflux until we told him she was diagnosed with Crohns but hadn't taken medication for 10 years and had no problems until now. He seemed to be doubting that she had Crohns and wanted to test for Crohns to rule out that being the reason for her problems. He ordered an EGD and colonoscopy and also ordered the Prometheus test to check.

Flash forward to this week she had her scopes done...no evidence of Crohns in her colon or terminal ileum but she does have a small hiatal hernia that he said can be taken care of with Zantac. The funny thing is both the nurse and doctor asked if she was on Remicade (must have forgotten) which we told them no, that she hadn't taken any medicine in years. Blood test results came back negative for both Crohns and ulcerative colitis. We have another appointment scheduled this month to try to make sense of it all.

What do you think about this? I'm trying to wrap my head around what is going on. Could the initial diagnosis be wrong? She never has any serious pain and hardly has diarrhea. When she first told me she had Crohns (4 years ago) I didn't look into it too much because she never had problems, it was only until she started with the vomiting I looked into it more and thought that she didn't have any symptoms on the bottom half.

Thanks for reading and the advice I'll keep you updated when we investigate more!

-Wing

 

[DustyKat]

Hi Wing and :welcome:

It is difficult to say if she was misdiagnosed or not. Do you know how they arrived at the diagnosis in the first place...colonoscopy, biopsies?

The thing is blood tests do not always come back positive when there is indeed IBD present. It is possible for people to have one flare and then go into remission for a lengthy period of time without treatment and not everyone has classic symptoms of Crohn's, so pain and diarrhoea aren't always a given.

Now all that isn't to say that your girlfriend wasn't misdiagnosed, just that things can be explained away if she does in fact have Crohn's.

Have you both spoken with her parents, assuming they are around? Will they be able to shed more light on happened when she was diagnosed?

Good luck with the appointment, I hope it is able to give you both solid answers as to what is going on.

Dusty. xxx

 

[Honey]

Hi there,
I was diagnosed with Diverticulitis years before severe tummy pain resulted in a diagnosis of Crohns. So, they do not always get it right first time! Symptoms you describe sound more like a Hiatus Hernia you mentioned. I was diagnosed with that many years ago. It can cause vomiting and chest pain due to reflux ,until meds stop this. Also, one has to avoid spicy or rich food which could aggravate it!! Severe daily Dia and tummy pain go along with Crohns ,which is difficult to pick up. Be glad that it is not that as it is a very difficult disease to treat. I hope that helps. Wishing your girlfriend well again soon.:thumright:

 

[winginit222]

Hi Dusty,

Thanks for responding. Her and her parents really can't remember what was done and what it was that diagnosed her, but I do know she had an EGD and colonoscopy and what I think was a barium swallow. I don't know which thing they used to diagnose though and I'm unsure on any biopsies. We're going to try to get her old medical records and see what was in there and hopefully try to get the doc to look into as well. It's been making me crazy trying to wrap my head around it though lol.

Thanks for the support!
-Wing

 

[winginit222]

Hi Honey,

Thanks for the reply. Yeah she has been taking Prilosec and now she is on Zantac and that seems to relieve the pain. She sometimes still gets it but its not nearly as bad as it is without medication. I'm not sure if the doc wants to check her gall bladder next or do any other tests though.

Yea she doesn't have any problems with her lower half except the doctor said she had hemorrhoids. She went all these years thinking she had Crohns now we're not sure what's going on. Is it possible to have a fistula without having Crohns? If so, what would cause it then? I do remember her saying that she never wanted it to get checked out and if it weren't for her mother dragging her to the doctor she probably never would have went. Could it possibly have been an infection that got out of control? And would that infection cause Crohns like symptoms.

Thanks for the support!
-Wing

 

[shamrock15]

I guess that anything could be possible, however, I am likely to believe that it went into remission early on based on my case.

I believe I had my first crohn's attack when I was about 5 or 6 years old. This was 1975, and it certainly wasn't any easier to diagnose back then. I had abdominal pain, vomiting, diarrhea and I remember lots of blood work. Then it disappeared all on its own. Showed up with a vengeance when I was 17. After almost a year of tests, mine was diagnosed after small bowel follow through.

As dustykat said, some of the tests don't always show the disease, yet it is still there. In any case, good luck with the appointment.

 

[winginit222]

Hi Shamrock,

Thanks for the reply. She had no symptoms at 13 other than the fistula and the pain associated with it. No vomiting or diarrhea at all, just constipation. I'm wondering if the doc is going to do tests on the small bowel next though.

Thanks for the support!
-Wing

 

[SarahBear]

Hi, Wing! This is interesting.

It is possible she was misdiagnosed - but it's also possible she wasn't, and she just went into a very stable remission and has stayed there. That's absolutely possible. Was she dealing with more stress than normal when her symptoms began at age 13, and did it go away around the time things cleared up? That's pretty much what happened to me - my home life was very stressful, and when I moved out of my mother's house, the combination of medication and the reduction of stress put me in remission. Since I've been avoiding that stress since, I've stayed in remission - even though I've been unmedicated for about three years due to insurance issues.

Atypical symptoms isn't a reason to completely discredit IBD. There really isn't an 'atypical,' where Crohn's is concerned. We all experience it very differently, and while her situation certainly isn't a classic case, it's not unheard of.

I agree with Dusty - her parents might have more insight than she does. It can be tricky to remember things from that age, especially since the doctors direct their conversation towards the parents anyway. When you add in that she was feeling unwell and was taking various medications, it can really mess with your memory.

Does she (or her parents) have or have access to her medical records from that time? That would be a big help to her and her current doctor in understanding what's going on. If she was diagnosed definitively before, then that means she still has Crohn's - she's just in remission. Making sure the diagnosis was definite would clear up a lot of confusion.

I think IBD is generally the cause of anal fistulas, but other things can cause them. I believe tuberculosis, cancer, and some STDs can, but those are things that would have been evident and wouldn't go away until treated.

Please keep us updated on what you all find out. :hug:

 

[winginit222]

Hi Sarah,

Thanks again. No she wasn't under an unusual amount of stress (she's actually under tons of stress now but isn't having bowel symptoms). She did tell me today that she was diagnosed after only a couple of months and Crohns was the first thing she was diagnosed with. As for the fistula she remembers it being filled with gauze and healing on its own (or something like that...she can't remember specifics). I guess it all boils down to what they based their initial diagnosis on, so hopefully we'll have some answers. And of course Ill keep you updated.

Thanks for the support!
-Wing

 

[Cat-a-Tonic]

Hi Wing, welcome to the forum. You've been given some good information so far. I just wanted to add - I have some form of IBD (probably either Crohn's or microscopic colitis) and I have a small hiatal hernia as well. I have severe GERD thanks at least in part to the hiatal hernia - even though the hernia is small, it can cause massive awful symptoms! You've mentioned Zantac, and that's probably the mildest of the reflux meds. So just to let you know, the Zantac might not take care of things on its own. I'm currently on Nexium 40 mg, Zantac 300 mg twice daily, and Tums as needed - that keeps the reflux mostly at bay, although sometimes (particularly if I eat the wrong thing) I still get awful attacks of reflux. With the severity of symptoms you've described your girlfriend as having, I would bet that Zantac alone won't do much - so keep an eye on that as well.

It seems that hiatal hernias frequently happen in IBD patients, too, so that makes me suspect that your girlfriend may have Crohn's after all even if it's mostly asymptomatic. When I was first diagnosed with hiatal hernia, I did some googling. What I found was that hiatal hernias most often occur in people who are overweight/obese (I'm thin), people over the age of 65 (I'm 33), and people who smoke (I don't). But hiatal hernias, at least from anecdotal evidence from here on the forum, do seem to be pretty common with people who have IBD. Just a thought for you.

 

[winginit222]

Hi Cat,

Thanks for the reply. Yea we're going to talk to the doctor about prescription medicine to see if that will keep the symptoms at bay. She was told she has a slow moving stomach so that might be making her symptoms worse. It's funny that you mention that about hiatal hernias and ibd because I had a hiatal hernia when I was 14, a very large one that I had to have surgery for. The doctor has assumed that I was born with it. I'm unsure if she had one on her EGD when she was younger, however.

I talked more to her mom and she said they based the diagnosis on the fistula and the colonoscopy and EGD but she doesn't remember if any biopsies were taken. I guess it would be helpful to try to get the images of those from before. Hopefully we will know more soon!

Thanks,
-Wing

 

[winginit222]

Hi all again,

I talked more with my girlfriend about it. She remembers seeing pus on her colonoscopy. But she also remembers that she did not do any prep for the colonoscopy, she was only not allowed to eat the day before it. Is it normal not to have to do prep for a colonoscopy? This was back in 2003-04 so things might have been different back then, but I've never heard of that.

Thanks,
-Wing

 

[Cat-a-Tonic]

Wing, doing prep is the norm for colonoscopies, yes. Is your girlfriend prone to diarrhea? Before my colonoscopy, the nurse said that since I wasn't eating much and I was having a lot of diarrhea, that it was possible that I might just be able to skip the prep as I would be mostly cleared out already anyway. In the end though they did make me do prep just to be sure I was all clear. But it seems to me like that might ultimately be up to the discretion of the nurse/doctor, based on my experience anyway.

 

[winginit222]

Hi everyone,

Just wanted to let everyone know of an update. The GI is confident that she does not have Crohns and retracted her diagnosis. He said the fistula could have been associated with an infection. Of course there are never any guarantees, but I'm hopeful he's right!

In regards to her symptoms, it appears to be biliary colic caused by gallstones. We finally got that diagnosis after asking for an ultrasound to be done (she had similar symptoms, a strong family history, and her trigger appeared to be fatty foods, not acidic foods...ie not caused by hiatal hernia). She is scheduled for a gall bladder removal and hopefully will be completely pain free and able to eat what she wants. She went to a chiropractor to try to correct her hiatal hernia, and it seems that her symptoms have improved greatly but she will still have some discomfort.

It's been a long year and she's ready to get that thing out! Thanks for your help for everything!

-Wing

 

[Honey]

Hi there,
Your girlfriend must be feeling lousy with gall bladder trouble. I am glad a diagnosis has eventually been made and wish her well again soon. You are in my thoughts and prayers.
:getwell:anda:

 

[mccindy]

Wing,
I can understand what your girlfriend is going through. I was diagnosed with Crohn's via colonoscopy (no biopsies) in 1995. I had very few problems over the years. Over the last year and a half I really started to have a lot of problems. My current GI doubted the Crohn's diagnosis as he felt it was highly unlikely that I would have so few problems for such a long time. He didn't find anything on my last colonoscopy that indicated Crohn's either. He did take biopsies as well which were negative. He's since given me the diagnosis of constipation-specific IBS with multiple food intolerances (which basically means you can't go to the bathroom and can't eat, but we don't really know what's wrong with you). It's quite frustrating. I'm very glad for your girlfriends' sake, that they've found something that could be the cause of her symptoms and she's gotten some relief from them. It can be difficult to live with GI problems. I give you Kudos for sticking by her side and helping her out!