I was the third person in my family diagnosed with PSC. My mother had her liver transplant in the fall of 1987 and is still alive and kicking today. She just turned 60 last November. My little brother was diagnosed in 2000 and he received his transplant last February and just celebrated his one-year anniversary. I was diagnosed in 2003 and luckily have kept the symptoms at bay(mostly itching), with Tricor. When my little brother became symptomatic, doctors told him PSC was not genetic and didn’t run in families. Shortly after this, he had his common bile duct replaced with a piece of intestine and PSC was confirmed. For over a year when I became symptomatic, I had doctors tell me it was pretty much impossible for a third immediate family member to have it, but after the biopsy, there it was.
I just want to know if anyone else has experienced or heard of other families with multiple PSC diagnoses.
Thank you.
Nope, I am the only one in my family. Guess I am just lucky that way ;)
Lucky like a lottery winner, right? 
I'm the only lucky one in my family.
Although I am the only one in my family with PSC, there are other liver complaints with some family members. My granny died of liver cancer in 1987, her son (my uncle) has PBC and my sister has acute autoimmune hepatitis (she got this when she was only 11 and thank God she came through a bad phase at that time and keeping it at bay now with azathioprine).
My husband had PSC and his father has multiple sclerocis and his uncle has ME all of which are auto immune diseases. There may be a link but it has never been proven.
My father had it. He was diagnosed too late for a transplant. But out of eight children, I am the only one to have it.
Thank you to all who have responded so far. I believe there needs to be more research and information about genetic connections in PSC and other autoimmune disease. At one point, a doctor had mentioned having the whole family give samples for some sort of genetic study. For some reason or another(probably one of us had some more pressing issues to deal with), we never did follow through with it. Please keep the replies coming because I am truly intrigued by the possible genetic connections. Thank you.
Michael,
I was told the same thing by many docs over the years. I had my first Esophageal Varices bleed in 1995 at aget 24 and was diagnosed with PSC soon after.
Funny thing is, my Mom’s dad died at 24 coughing up blood, as did his dad.
So, who knows? Without a detailed family medical history , I would think it impossible for doctors to make such a broad assumption.
The good news: I finally received a liver two weeks ago, and am doing fantastic! All levels are now normal. My final MELD was 36, and now I feel as if I could conquer the world! There IS hope.
Best,
Pat
Great news about the transpant, Pat! and thank you for the information.
Wow, Pat, that's a helluva way to start out with PSC - an internal bleed! Congratulations on your new liver and your new journey through life.
MichaelNotMike said:
Great news about the transpant, Pat! and thank you for the information.
Michael,
There is genetic research into PSC going on at Cambridge University here in UK, and I believe that already, the results are looking interesting, but they need more volunteers to give specimens of saliva or blood before the results can be verified and published.
I have PSC diagnosed after 5 years of tests, scans and liver biopsy. It is possible that two other members of my family on my mother's side, may have had PSC but alcoholism and the resulting cirrhosis from which they both died, so that is by no means certain. More recently, one of my first cousins was found to have raised liver enzymes but these are not yet considered to be high enough to investigate!
Good news about your mother and brother and their successful liver transplants.
I read earlier that PSC is an autoimmune disease, well my mother went to her eternal resting place only 3 years ago after suffering from MS. Out of seven children that she has, three of us have autoimmune diseases. I have PSC, my sister that I mentioned previously has acute autoimmune hepatitis and my other sister has coeliac disease.
My brother and i both have PSC and Ulcerative Colitis. I am not a doctor, but i think there is definitely a genetic predispostion to both. Some say UC is due to a genetic prediposition to weakening of the lining of the colon. So some people in the family get it and some dont, depending on other factors that affect this predisposition (like maybe exposure to a certain type of virus, for example). Not sure if that makes sense.
HI Pat!
Congrats on your liver transplant. That's great to hear. I was just wondering if it was only your liver which was effected by psc or if the larger ducts outside of your liver were also victims along with your spleen. I am just wondering because apparently with my husband's psc it is effecting the outside of his liver more, meaning that they are concerned with cancer of the main duct. Just curious because, I'm wondering, if in my husband's case, a transplant would even be helpful.
Pat Buchta said:
Michael,
I was told the same thing by many docs over the years. I had my first Esophageal Varices bleed in 1995 at aget 24 and was diagnosed with PSC soon after.
Funny thing is, my Mom's dad died at 24 coughing up blood, as did his dad.
So, who knows? Without a detailed family medical history , I would think it impossible for doctors to make such a broad assumption.
The good news: I finally received a liver two weeks ago, and am doing fantastic! All levels are now normal. My final MELD was 36, and now I feel as if I could conquer the world! There IS hope.
Best,
Pat
HI Michael.
My husband has PSC and he was also told that it has nothing to do with genetics and that we shouldn't be worried about our children having it. We had a little girl in November 2011 and I sure hope she will be spared. I just believed the Docs and thought that it wasn't even something to consider...that she might develop it due to genetics. Sure hope not.
Hi Sabine!
It was certainly my liver and specifically my bile ducts which were affected, but we did see signs of pre-cancerous lesions on the pancreas and kidneys. My spleen was removed when I was just six years old, which they think may have kicked this whole ball into play. Now, I do know that even with cancer on the liver, they will still transplant. The only concern is if it spreads malignantly into other areas of the body. In fact, transplant is THE best option for your husband, and I would recommend that you pursue this with all your energy at this point, if you haven't already. It really can and will save your husband's life! Let me know if you have any more questions, and I'll answer as best I can. I've learned a lot over the past years, and I can only hope to share this knowledge with people in need.
Best,
Pat
Sabine said:
HI Pat!
Congrats on your liver transplant. That's great to hear. I was just wondering if it was only your liver which was effected by psc or if the larger ducts outside of your liver were also victims along with your spleen. I am just wondering because apparently with my husband's psc it is effecting the outside of his liver more, meaning that they are concerned with cancer of the main duct. Just curious because, I'm wondering, if in my husband's case, a transplant would even be helpful.
Pat Buchta said:Michael,
I was told the same thing by many docs over the years. I had my first Esophageal Varices bleed in 1995 at aget 24 and was diagnosed with PSC soon after.
Funny thing is, my Mom's dad died at 24 coughing up blood, as did his dad.
So, who knows? Without a detailed family medical history , I would think it impossible for doctors to make such a broad assumption.
The good news: I finally received a liver two weeks ago, and am doing fantastic! All levels are now normal. My final MELD was 36, and now I feel as if I could conquer the world! There IS hope.
Best,
Pat
Sabine, thanks for the input. I had also had doctors tell me not to worry about the possible genetic link with PSC, even though at the time of my diagnosis, my son was a few years old. I have been told not to worry about any sort of testing, unless at some point he has any type of symptoms. And my family is pretty familiar at this point with whatever form they could appear in.
HI Pat.
Thanks for your earlier note. You mentioned that we should really look into getting a transplant. The Doctors always say that his liver is still doing fine and at this point is still functioning about 75% or something like that, but I have often wondered why they haven't put him on the transplant list as he is young and things could get bad fast. We live in Canada so I don't even know how much say we have. How does it work in the states? I'm not even sure we can pursue it...I guess we'd have to pressure the doctor. I'm interested in what you have to say as we sometimes feel in the dark with what's really going on. My husband is only 26 and he was diagnosed in 2009.
Hi Sabine,
Not sure how it works in Canada (many Americans actually envy your healthcare system; it's a mess down here!) but I'm quite certain that the main thing that will determine if your husband is eligible for transplant is his MELD score. Ask your doctors about it if they haven't spoken about it already... it may be that his is still too low to be very concerned. Although, with pre-cancerous symptoms, this will certainly increase his score. MELD is made up of several factors that look at specific liver level enzyme levels, mainly: Bilirubin, INR, and Creatinine. The more off base these are, the higher his score will go, and the closer he will get to being listed for transplant. Many in the States now transplant at a MELD of about 22-26. Since the last month with PSC goes downhill pretty rapidly, my final MELD was 36. But, good humor and a positive attitude can truly carry you through just about anything. Remember to laugh at this disease! You'll be fine.
I've thrown a lot of info over the past four years into www.patsnewliver.blogspot.com
Enjoy! Hopefully it will give you some additional info and insight.
Good Luck,
Pat
Sabine said:
HI Pat.
Thanks for your earlier note. You mentioned that we should really look into getting a transplant. The Doctors always say that his liver is still doing fine and at this point is still functioning about 75% or something like that, but I have often wondered why they haven't put him on the transplant list as he is young and things could get bad fast. We live in Canada so I don't even know how much say we have. How does it work in the states? I'm not even sure we can pursue it...I guess we'd have to pressure the doctor. I'm interested in what you have to say as we sometimes feel in the dark with what's really going on. My husband is only 26 and he was diagnosed in 2009.