Earlier Dx Of PBC In Families Now Possible

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Source: Mayo Clinic

Date: September 14, 2007

Earlier Diagnosis And Treatment Of Primary Biliary Cirrhosis In

Families Now Possible

Mayo Clinic researchers have found that first-degree relatives (i.e.,

parents, siblings, children) of patients with primary biliary

cirrhosis (PBC) are more likely to have the biomarker of the disease

in their blood.

Armed with this new information, physicians could screen and assess

first-degree relatives of PBC patients with a simple blood test,

enabling them to diagnose and treat more patients before the disease

causes irreversible liver damage. These findings were published in

this month's issue of Hepatology.

PBC is a chronic liver disease that affects nearly 50,000 people

(primarily women) in North America. In individuals who have PBC, the

bile ducts are slowly destroyed, causing harmful substances to build

up in the liver and sometimes resulting in irreversible scarring of

liver tissue and liver failure. About half of PBC patients have no

symptoms and are diagnosed following abnormal results of routine liver

tests.

Anti-mitochondrial antibodies are the biomarker, or the substance that

correlates with the risk or presence of a disease, for PBC. This

study, the largest of its kind, tested for anti-mitochondrial

antibodies in 306 first-degree relatives of adult PBC patients and 196

healthy adults. The prevalence in first-degree relatives was 13.1

percent, compared to 1 percent in the control group of healthy adults.

Even greater prevalence was found in female relatives, with 20.7

percent of sisters, 15.1 percent of mothers and 9.8 percent of

daughters having anti-mitochondrial antibodies in their blood. While

testing positive for anti-mitochondrial antibodies does not always

lead to a diagnosis of PBC, the presence of these antibodies indicates

a predisposition to develop the illness, particularly in the context

of family history of the disease.

" Most PBC patients have no symptoms, but early detection is important

because timely treatment can slow the progression of the disease

before liver failure occurs, " says Konstantinos Lazaridis, M.D., the

study's lead author and a hepatologist at Mayo Clinic. " Because

collectively one in five sisters of a PBC patient has

anti-mitochondrial antibodies in their blood, we think it is

worthwhile to screen first-degree relatives, particularly those older

than 40 years, for this biomarker. It is a simple, inexpensive blood

test that could lead to earlier diagnosis and treatment -- and

ultimately, better outcomes for PBC patients. "

According to Dr. Lazaridis, the study's findings regarding

anti-mitochondrial antibodies in PBC relatives could also be important

to better understanding the known genetic predisposition to PBC. His

research team plans to continue screening and monitoring first-degree

relatives of PBC patients over many years to further examine these

findings and to shed light on the cause of this disease.