I was told a couple of weeks ago my son may have PSC or AIH with PSC overlap. I'm not sure I have accepted it yet and not sure what I am looking for here other than support and/or maybe help with understanding. Or maybe getting people's thoughts on if this can truly be PSC.
To give you a little history, my son just turned 14 years old. Up till now has been a healthy kid (no history of health problems), athletic and participates in numerous sports (football, track, hockey). His dream was to join the Naval Academy and we have spent a lot of time getting him set up for this. But on April 5th of this year, our lives took a turn that I never expected.
On April 5th, my son and his two brothers all came down with some sort of stomach bug. They all had nausea and vomiting. The two brothers recovered after 48 hours, but on the third day my son wasn't getting better and complained of pain in his right upper quadrant. After a doctor visit, it was noted he had 102.5 fever and his eyes had a hint of yellow in them... so we were sent to the ER. There it was determined his liver enzymes were slightly elevated (still under a 100) and his Bilirubin was 5. He had also developed a rash over his entire body and his liver was slightly inflamed. They sent us home and said this was more than likely some sort of viral infection that had infected his liver and sent us home pending a bunch of viral tests.
Everything came back negative, but his labs continued to improve over the next week. His liver values returned to normal, but the bilirubin dipped down and then came back to 5 again during this time. The doctors said they weren't concerned and told me it may take a bit for his body to rid itself of the bilirubin. The doctors agreed we were ok to take him on a planned family vacation.
When we left for our trip, I thought my son was looking a little more jaundiced so I called his pediatrician. She assured me his labs were looking good, but if I was concerned to take him to the local ER. Within a day of the phone call, my son went downhill quickly. He started looking very jaundiced, nausea and vomiting, and pain so intense he couldn't walk. I had to get him a wheel chair. I took him to the ER and his liver enzymes were around a 100 and his bilirubin was up to 7. They did an ultrasound and MRCP. Everything looked normal, but it was noted there was sludge in the gallbladder. The ER doctor suggested we may have to remove his gallbladder. I didn't want to have the surgery done there and asked if he was cleared to fly home, which he was.
Once we got home, I was put in touch with a GI Specialist near my house. She ordered a ton of blood work but seemed to be still thinking this was viral and took a very casual approach to our situation. At this point my son had lost 15 lbs in 2 weeks since he was unable to eat, so I went looking for another doctor.
I found the second doctor at Children's National who I have been very happy with and she was much more aggressive in her approach. She admitted him, had a biopsy performed and a team of doctors re-review the other's hospital MRCP scan. And this is where we stand: MRCP is negative for any type of abnormalities. The only thing that was noted was sludge in the gallbladder. His blood work came back negative for everything they tested for to include pANCA and the other Autoimmune markers. IgG was elevated. His Alk Phos has always been normal, but GGT elevated. Liver Enzymes are continuing to climb but still in the 100s. The Bilirubin had climbed to 12. The liver biopsy did show "mild bile duct injury, and periportal fibrosis, with mild inflammatory activity most consistent scelorising cholangitis." They discharged us with a antibiotics and ursidiol.
Since he started the medications, he has improved greatly. We returned to his doctor after four days of being on the medication and she decided to add steroids to see if helped clear up the jaundice quicker and stop the inflammation of his liver. This is where things got interesting. Pre steroids, he went from Bilirubin of 12 to 8 in 4 days, she put him on steroids and in another week he was down to 4 and in another week we are in the normal range. BUT the ALT has continued to rise, we are in the 190s now and AST dropped to 60. The GGT jumped from 200 to 500s and the ALK Phos, while normal, dropped to the lower end of normal. All other blood work is normal. As she said, this is a bit confusing.
I'm confused. It doesn't seem to fit AIH or PSC, but has symptoms of both. The MRCP is normal, but she did say we will do an ERCP in a month to see what things look like. She wants to continue with immuno suppressive treatment.
I took him to Children's Hospital of Philadelphia for a second opinion and that doctor based his opinion on the biopsy report only and said it has to be small duct PSC. Didn't seem to want to take anything else into consideration and basically told me and my son to plan on a liver transplant in the next 10 years.
My son was crushed and it was the first time through all this that I saw him breakdown. Not only are his dreams taken away, but now he is potentially being diagnosed with something that can prohibit from living a normal lifespan. I was upset with the doctor for saying these things in front of my son. I left there angry. Although, I'm not sure if I was angry with the doctor or the diagnosis.
I went back to Children's National and discussed with our doctor what CHOP had to say. She agreed PSC is something that is on the table now for diagnosis, but feels we are still to early into this to know. Everything I have read, it just seems like presentation and labs don't support PSC but I think it is the biopsy that is making PSC a possible diagnosis.
I don't know, just trying to understand.... trying to figure out how to support my son through all this. As his mother I want him to have the best life possible.