Primary Biliary Cirrhosis (cont.)
In this Article
What is the role of genetics?
PBC is not transmitted by heredity from parents with the disease to their
children. Thus, PBC is not a classical hereditary (genetic) disease, as is
diabetes, for example. Clearly, however, the genes of our immune system control
human responses to infections with bacteria and viruses. The genes of the immune
system also control the risk of developing autoimmune diseases. Studies have
shown that there are some weak associations between PBC and certain specific
inherited genes of the immune system. The fact that many people without PBC also
have these identical immune genes indicates that the genes themselves do not
determine if a patient develops the disease.
Accordingly, it appears likely that some immune genes create susceptibility
for PBC, but the disease does not occur without additional events. Besides that,
certain other immune genes may control progression of the disease. These genes
are more common in patients with advanced PBC than in patients with the earlier
stages of PBC. Indeed, recently, additional genes involved in immune signaling
were found to be markers of both susceptibility and disease progression. Studies
currently being conducted on patients whose close relatives also have PBC may
clarify exactly which genes are associated with susceptibility and progression
of PBC.
What are the symptoms and physical findings in PBC?
The symptoms and physical signs (findings) in patients with PBC can
be divided into those manifestations due to:
- PBC itself
- Complications of cirrhosis in PBC
- Diseases often associated with PBC
Table 2 lists the multiple signs
and symptoms (manifestations) of primary biliary cirrhosis, its assciated diseases, and the
complications of the cirrhosis.
Patients with PBC, however, very often do not have any symptoms. In the large
study of 770 patients with PBC in northern England, 56% had no symptoms at the
time of diagnosis.
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