Cholestasis, Progressive Familial Intrahepatic 1

Common Name(s)

Cholestasis, Progressive Familial Intrahepatic 1, Byler Disease

Progressive familial intrahepatic cholestasis 1, also known as Byler’s disease and Greenland-Eskimo familial cholestasis, is a rare condition and is one of the multiple forms of cholestasis. Cholestasis is a rare disease where a person’s liver can not move the bile it makes to the small intestine. The liver, an organ, is responsible for producing bile. Bile is a compound that helps people digest fats. Once the bile has been made, it is supposed to go to the small intestine, another organ, to digest the fats there. However, in people with cholestasis, the bile can not move to the small intestine because there is either a physical block or because the bile is stuck in the liver cells. People with progressive familial intrahepatic cholestasis 1 may have symptoms such as watery diarrhea, itchiness, and jaundice (yellowing of the skin). Talk with your doctor to find the best treatment for you if you have been diagnosed with progressive familial intrahepatic cholestasis 1.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cholestasis, Progressive Familial Intrahepatic 1" for support, advocacy or research.

werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cholestasis, Progressive Familial Intrahepatic 1" for support, advocacy or research.

werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cholestasis, Progressive Familial Intrahepatic 1" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cholestasis, Progressive Familial Intrahepatic 1" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease
 

Status: Available

Condition Summary: Byler Disease

 

Last Updated: 19 Mar 2014

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Last Updated: 15 Oct 2014

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Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease
 

Status: Recruiting

Condition Summary: Alagille Syndrome; Progressive Familial Intrahepatic Cholestasis

 

Last Updated: 26 Sep 2014

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