Hereditary
David
Bernstein, M.D.
Director of
Question 4:
a. If sisters or mother/daughters have PBC, what are the chances of their
children or grandchildren getting PBC?
Answer 4a
While PBC may be found in families, it still remains uncommon that a mother
and child or two sisters will be affected. In published studies, the rate
of familial prevalence of the disease varies from 1-5% with American studies
at the lower end of this spectrum and British studies at the higher end of
this spectrum.
David
Bernstein, M.D.
Director of Hepatology
North Shore University Hospital
Manhasset, NY
7/13/2003
b. Should they be tested to check for PBC or just keep an eye on blood work
every year?
Answer 4b
There are no concrete recommendations on how to follow family members. I
do not recommend any testing unless there are symptoms or the disease is
suspected. I would not perform AMA testing or check yearly blood tests. In
an adult, if the alkaline phosphatase is checked
once as it usually for some reason during adulthood and it is normal, this
pretty much rules out the presence of PBC.
Nathan
M. Bass, MD, PhD
Professor of Medicine
Medical Director, Liver Transplantation Program
University of California, San Francisco
11/4/2002
16.)
Question
Some
believe PBC is caused by chemicals. If this is true why wouldn't the liver
heal itself if they stayed away from bad chemicals such as bleach, ammonia,
gas, smoke, and motors oils?
Answer
The
evidence for a role for chemicals in causing PBC is very new, and certainly
interesting. If this turns out to be important, then the reason the liver
may not simply heal itself after removal from the responsible chemical is
that chemicals may be only part of the mechanism. For example, a particular
chemical may trigger a key disease process in a genetically susceptible
individual. The disease process may then be self-sustaining as a result of
the immune system behaving in a disordered fashion. This may also derive
from the individual's genetic makeup. Under circumstances of chronic chemical
exposure, the liver may never quite heal completely because it is injured
on a chronic or repeated basis, similar to the way repeated exposure to excessive
alcohol over years may lead to cirrhosis. However, it is certainly unlikely
that PBC is related in any way to chronic chemical
exposure.
Andrew
Mason, MBBS MRCPI
Associate Professor of Medicine
Division of Gastroenterology, Department of Medicine,
University of Alberta, Edmonton, Canada
August 2000
Question
10
Have
you found a transmissible agent in PBC? Could we have contracted this or
could we possibly be contagious?
Are
all viruses human viruses? Just what is a retrovirus? Could this possibly
be another form of hepatitis or a
variation?
When do you expect the results of your research to be published? I personally
am glad to see someone
looking
for possible causal agents.
Answer
We have
found a transmissible agent in PBC and submitted a paper documenting infection
of biliary epithelial
cells
with
PBC patients' tissues. In this paper we show that the transmissible factor
is produced by the infected
biliary
epithelium
and can be passaged to other normal
biliary epithelium cells, it is particulate, and
we can kill it with gamma irradiation. In further studies, we have found
that the agent has the structural and chemical properties of a retrovirus.
We have
not yet studied how the virus is transmitted to patients. I suspect that
the virus does not cause PBC in all patients that are infected as very few
people get PBC. It is thought that you need to have specific genes to get
PBC in the first place.
Not
all viruses are human viruses. In fact, most of our viruses appear to have
evolved from animal viruses in the first place. The name retrovirus is derived
from the reverse transcriptase gene that the virus uses to replicate. Other
viruses, such as hepatitis B virus, also use a reverse transcriptase gene
and although this is not considered to be part of the retrovirus family,
it appears to be descended from this group of viruses. The hepatitis virus
group is just a collection of different viruses that are associated with
hepatitis and they are not a distinct family. I think the PBC virus may turn
out to cause hepatitis as well but we will have to perform further studies
to prove this. We hope to publish all the viral discovery data
soon.
Dr.
Melissa Palmer Answers Our Questions
Specialty:
Gastroenterology and Hepatology
Medical
advisory board of the ALF New York Chapter
ALF
National Chapter Nutrition Education Subcommittee
April
2000
14.)
I think it is strange that two of my sisters (one older and one younger),
have Primary Bilary Cirrhosis and has had an
adreneal gland tumor (as big as a grapefruit) removed.
Two very rare diseases . I am wondering if the two
diseases
have any similaries. I have another sister and
we are hoping these rare diseases will skip by us. Do
you
think
these two diseases have anything in common. Any comments would be appreciated.
Answer
There
has not been any noted association between PBC and adrenal gland tumors.
However, PBC is felt to run in
families
and I recommend all family members, especially women to be tested for this
disease.
Dr. Howard
Worman
Division of Digestive and Liver Diseases
Departments of Medicine and of Anatomy and Cell Biology
College of Physicians & Surgeons
Columbia
University
New York, NY 10032
December 1999
Question 36
Do you see a lot of patients with kidney and bladder infections?
Are they common with people who have PBC?
Answer
Several studies suggest that urinary tract infections are more common in
women with PBC. Our own study (Parikh-Patel A., Gold, E. B.,
Worman, H., Krivy, K.
E. and Gershwin, M. E.. Risk factors for primary
biliary cirrhosis in a cohort of patients from
the United States. Hepatology. 2001;33:16-21) showed
an increase of vaginal or urinary tract infections in women with PBC of
approximately 4-fold compared to controls. Some investigators have even
hypothesized that having a urinary tract infection may be a "trigger" for
PBC in certain susceptible individuals. This hypothesis has not been
proven.