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genetic factors of PSC

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Okay, so we're re-assessing our initial decision to not have anymore

kids because of my PSC diagnosis. I'm following what you all had told

me from the beginning (it takes me a while to catch up!). Although

we're not basing our decision on my risk of getting sick and/or dying,

I feel like I should have some idea of the risks to the baby in terms

of getting this disease. My hep last told me that there is a genetic

component, but usually there is some outside or environmental

trigger. So, even though the baby may have the genetic code to get

this disease, they may not come in contact with the trigger, thereby

avoiding this disease.

Are there any studies out there regarding the risks of passing this

disease onto children?

Any insight would be helpful!!!

Thanks so much,

Suzanna PSC-Fall 2007

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Hi Suzanna;

One study suggests that there is a 100-fold increased risk of PSC in

first-degree relatives of PSC patients in comparison to the general

population:

Bergquist A, Lindberg G, Saarinen S, Broome U 2005 Increased

prevalence of primary sclerosing cholangitis among first-degree

relatives. J. Hepatol. 42: 252-256.

http://www.ncbi.nlm.nih.gov/pubmed/15664252

" First-degree relatives of patients with PSC have a PSC prevalence of

0.7%. "

Some of the best studies on PSC genetics are now being done by Dr.

Karlsen:

Karlsen TH, Schrumpf E, Boberg KM 2007 Genetic epidemiology of

primary sclerosing cholangitis. World J. Gastroenterol. 13: 5421-

5431.

http://www.ncbi.nlm.nih.gov/pubmed/17907284

He'll be speaking on this subject at the PSC Partners Seeking a Cure

May 2-4 conference in ville, FL.

Best regards,

Dave

(father of (22); PSC 07/03; UC 08/03)

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Guest guest

Hi Suzanna;

One study suggests that there is a 100-fold increased risk of PSC in

first-degree relatives of PSC patients in comparison to the general

population:

Bergquist A, Lindberg G, Saarinen S, Broome U 2005 Increased

prevalence of primary sclerosing cholangitis among first-degree

relatives. J. Hepatol. 42: 252-256.

http://www.ncbi.nlm.nih.gov/pubmed/15664252

" First-degree relatives of patients with PSC have a PSC prevalence of

0.7%. "

Some of the best studies on PSC genetics are now being done by Dr.

Karlsen:

Karlsen TH, Schrumpf E, Boberg KM 2007 Genetic epidemiology of

primary sclerosing cholangitis. World J. Gastroenterol. 13: 5421-

5431.

http://www.ncbi.nlm.nih.gov/pubmed/17907284

He'll be speaking on this subject at the PSC Partners Seeking a Cure

May 2-4 conference in ville, FL.

Best regards,

Dave

(father of (22); PSC 07/03; UC 08/03)

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Guest guest

Hi Suzanna;

One study suggests that there is a 100-fold increased risk of PSC in

first-degree relatives of PSC patients in comparison to the general

population:

Bergquist A, Lindberg G, Saarinen S, Broome U 2005 Increased

prevalence of primary sclerosing cholangitis among first-degree

relatives. J. Hepatol. 42: 252-256.

http://www.ncbi.nlm.nih.gov/pubmed/15664252

" First-degree relatives of patients with PSC have a PSC prevalence of

0.7%. "

Some of the best studies on PSC genetics are now being done by Dr.

Karlsen:

Karlsen TH, Schrumpf E, Boberg KM 2007 Genetic epidemiology of

primary sclerosing cholangitis. World J. Gastroenterol. 13: 5421-

5431.

http://www.ncbi.nlm.nih.gov/pubmed/17907284

He'll be speaking on this subject at the PSC Partners Seeking a Cure

May 2-4 conference in ville, FL.

Best regards,

Dave

(father of (22); PSC 07/03; UC 08/03)

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I have wondered about this too- not that we are wondering about more

kids- triplets is the perfect amount for me ! but I have recently

been found to have crohn's and have had 'mystery' liver problems. I

had stage 3 bridging fibrosis on my first biopsy, elevated LFTs for

years but no liver diagnosis was ever made for me. I was told to have

a repeat biospy in 5 years and the next biopsy showed increased EOS

and some duct changes but was considered to be 'normal' ???

I am wondering what my recent crohn's diagnosis means in relation to

my liver history...my new GI doctor said flat out to me that he

refuses to talk about my son or try to make any connections (my son

is too 'complicated' - he IS complicated w/ short bowel syndrome,

immune deficiency, PSC, genetic colon cancer gene + more) but the GIs

(mine and my son's) don't want to explore genetic connections ?!?!

Pretty frustrating to me but finding new doctors is not an option at

this point and each GI is doing a good job at treating us

individually so...

Lori

>

> Okay, so we're re-assessing our initial decision to not have

anymore

> kids because of my PSC diagnosis. I'm following what you all had

told

> me from the beginning (it takes me a while to catch up!). Although

> we're not basing our decision on my risk of getting sick and/or

dying,

> I feel like I should have some idea of the risks to the baby in

terms

> of getting this disease. My hep last told me that there is a

genetic

> component, but usually there is some outside or environmental

> trigger. So, even though the baby may have the genetic code to get

> this disease, they may not come in contact with the trigger,

thereby

> avoiding this disease.

>

> Are there any studies out there regarding the risks of passing this

> disease onto children?

>

> Any insight would be helpful!!!

>

> Thanks so much,

> Suzanna PSC-Fall 2007

>

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