Programs in Autoimmune Liver Diseases

Mount Sinai has had a major and productive interest in primary biliary cirrhosis (PBC) for nearly 50 years, with important studies by Drs. Popper and Schaffner illuminating its clinical spectrum, natural history, and histopathologic evolution, as well as the nature and significance of cholestasis. This interest led to the accumulation of a large group of PBC patients, who have participated in numerous trials of medical therapies and have been an important group for Mount Sinai's liver transplantation program. 

Mount Sinai is currently following as many as 600 patients with this uncommon disease, including more than 100 who have received liver transplants and a similar number with advanced disease currently followed in the pre-transplant clinic. The remainder, at earlier stages in their disease, are followed in either the Liver Disease Associates FPA suite or in Liver Clinic. The Artzt Family Foundation Trust provided funds to start the Center for the Study of Primary Biliary Cirrhosis at Mount Sinai. The Center now supports both clinical and basic science initiatives related to PBC with funds provided by the National Institutes of Health, the American Liver Foundation, and the Hirschl/Weill-Caulier Trust.

Clinical/Translational Studies

1. Vitamin D and PBC-a clinical trial to examine the immunologic effects of vitamin D3 supplementation is open to enrollment. Macrophage functional studies will be included.
2. Osteoporosis in pre-menopausal PBC patients- a longitudinal clinical study to examine bone mineral density in pre-menopausal PBC patients is open to enrollment.
3. Hypercholesterolemia treatment in PBC- a retrospective study evaluating the long-term efficacy and safety of atorvastatin treatment in hypercholesterolemic PBC patients.
4. Patient history and DNA sample collection- a major component of the clinical program is the development of a unique patient database, which will eventually contain patient data from collaborating centers around the world. DNA samples linked to the database will be an important resource for laboratory investigations. The patient questionnaire is available on-line.
5. Macrophage function in PBC- previous studies indicate macrophage function is abnormal in PBC. These abnormalities will be correlated with macrophage gene expression.

Epidemiologic Study

1. Identification of PBC patient clusters- computer software analysis of residential zip code data is being conducted to identify areas in which large numbers of patients are unusually clustered. Environmental toxins potentially responsible for the clustering will be analyzed. Similar studies of PSC and AIH patients are anticipated.

Support Group

Meeting are held monthly at Mount Sinai under the direction of a non-physician moderator. Dr. Bach acts as a physician advisor.

Primary Sclerosing Cholangitis Studies