PSC mis-diagnosis - IGG4 disease

General
1

Helloo,

I saw the discussion this morning about a PSC possible misdiagnosis and I thought I'd share our experience. I realize that most of the people reading this have a confirmed PSC diagnosis but when in doubt, one should also think about the IGG4 possibility.

My son (13) started itching last June and complaining of mild stomach pains. I noticed around then that he had bulky stool but with my inexperience didn't know much about that (my husband and other son both have UC, so I'm more used to stools associated with that). His blood tests were all over the place. All LFTs were very high, in the thousands, so were his pancreatic numbers. His tests showed an enlarged pancreas and gallbladder sludge. I put him on a very low fat diet and Creon to help with the pancreatitis. Soon he was spending his nights itching and was on around the clock Atarax and Benadryl. His bilirubin was up to 3. Colonoscopy and endoscopy were normal. His MRCPs (he did two) showed normal ducts. His IGG4 level was normal.

He then had an ERCP done and a major biliary stricture was found and a stent placed. No beading was found, We had a 2-hour hospital talk (UCSF) with many docs explaining to us all about PSC, its progression, and the best centers for liver transplants. The surgeon hadn't looked at the pancreatic ducts during the ERCP for fear of bringing back the pancreatitis (by then the pancreatic numbers were normal with the diet and Creon). We were told that the pancreatitis had been caused by the stricture and the bile backing up into the organs.

We thought that he would be able to eat again normally with the stent but his stools were still abnormal. The itching stopped but he still needed the Creon. We were told that it takes time for everything to function normally again.We moved to Dr. Cox who mentioned the Vanco treatment but decided to hold off on that.

2nd ERCP the stent was replaced and his surgeon (bless his heart best surgeon ever, Christian Mathy), says that the stricture is better but not completely gone, and that there is still no beading. He says that we should consider IGG4 disease, which is often mistaken for PSC. We go back to Dr. Cox who tests for IGG4. It is still in the normal range but higher than what it was before. (one can have IGG4 disease with normal levels)

3rd ERCP (that's 4 months after the first, my son is still on Creon. Tried to wean off it twice unsuccessfully) we ask the surgeon to check the pancreatic ducts. He finds then that they are in terrible shape. We decide to see if my son will respond to prednisone (standard treatment for IGG4 disease). A week into the high dose prednisone and we stop the Creon with normal stools. He stayed on the prednisone 3 months.

4th ERCP (done because MRCPs never showed anything). All ducts are back to normal.

John's stools weren't always great and his stool calprotectin levels were indicative of IBD (Prometheus blood test was positive for UC). So he's been on Lialda and Culturelle for the past 4 months. and has had normal stools for the past 4 months :-). His last prednisone half pil was on February third and he's been fine since. We're keeping our fingers crossed that it holds.

Finally, 70% of IGG4 related pancreatitis/strictures resolve over time without treatment. Prednisone speeds things up. SO for the person talking of misdiagnosis it could have been a bout of IGG4.

Thanks, And thank you all for all the support you've given me when in the trenches, especially jtb, you're amazing!

Marie

2

What an ordeal! I’m so glad it looks like your son will be ok! Am I right in thinking that that new Dx has a better prognosis?

3

Yes. There is a probability of relapse but at least we know he responds to prednisone. he's getting monthly blood tests which have been good so far.

That said Dr. Cox is his doctor now and he is doing miracles with Vanco. We would have definitely started him on it if the PSC diagnosis was confirmed.

4

Why aren’t more docs trying the off label?

5

Hi there. I'm in the 30% of IgG4-related pancreatitis patients that did not respond to prednisone after several courses of it. By the time the dose was down to 10 mg, my LFTs were on the rise and symptoms returning. Bile ducts as a result became beaded and scarred, resulting in a secondary sclerosing cholangitis behaving and progressing like PSC. I've already gone through preassessment for liver transplant. The autoimmune pancreatitis hasn't been of large concern in recent years as my pancreas has settled down and the IgG4 remains elevated but not terribly. I'm glad the Creon has been helping your son, I was never tried on a pancreatic enzyme. IgG4-related pancreatitis is a tricky one - sometimes misdiagnosed as pancreatic cancer and unnecessary major surgery done, only to find out later that it usually responds well to a course or two of prednisone. I'm very glad that your son has continued to do well since the prednisone tx!

6

honestly I thought I had it bad but when its ur child it must be awfull full props to you and well done

7


Wow Alix I thought that 98% of AIP cases responded to prednisone. The prednisone is usually followed with an immune modulator like Imuran or 6-MP for a year. In my son's case I'm trying to avoid that because of their side effects. Have you tried an immune-modulator?The Lialda is supposed to be a mild immuno modulator and so far things seem to want to hold. I am so sorry that you have gone through so much. This disease is hard to manage, especially since most doctors don't know how to manage/diagnose it.

tx!

8

Marie, I am glad to hear that your son is on the mend. I am happy that finally diagnosed it correctly and that he is responding to treatment.

9

Oops, sorry, mistaken - the rate of cases that do not respond to prednisone is in the mid teens. I was diagnosed in 2007 and have been on Imuran for 6 years, will likely be on it permanently. Fortunately, I have not had any serious side effects. Most doctors still haven't heard of this disease and many patients have tales of misdiagnosis.

10

Thanks for the follow up - there's bound to be someone in a similar boat who will benefit from your son's experiences. I'm glad they finally got it figured out and that treatment is working.

11

I hope that someone will benefit from it too. And thanks for all your guidance. Thanks to your advice, we ate tropical meals for a while (cooked with coconut oil) and were able to stop the extreme weight loss. John has now regained all the weight and has grown 5 inches in the past 6 months :-)

I hope that this NorUrso ends up working as well as we hope. I am hopeful that we will have cures/effective long term management for PSC, UC, and auto-immune diseases in general in the next 10 years. Right now we are all on some type of medication and probiotics, as it is believed that it all starts in the gut.