The Rundown on Rare Liver Disease


A new report updates medical community on primary sclerosing cholangitis.

Researchers from the Mayo Clinic released a new report that update the medical community on the liver disease primary sclerosing cholangitis (PSC), which affects an estimated 29,000 Americans.

PSC is a disease that damages the ducts that carry digestive bile from the liver to the small intestine. Many patients will eventually require a liver transplant in order to survive. Approximately 60% of individuals with PSC are male, and the median age is 41-years-old.

An article published in the New England Journal of Medicine notes that although there has been a recent increase in incidence rates, there are no effective medical therapies currently proven to treat this condition. Authors noted that an improvement in diagnostic techniques has allowed for an increase in the diagnosis of PSC.

“These increasing numbers don’t necessarily signify more individuals having the disease,” said study author Konstantinos Lazaridis, MD. “Increased awareness of PSC in the medical community and improved noninvasive methods of detecting this disease may have increased the number of patients.”

Currently, the only diagnostic techniques used to detect PSC are endoscopic retrograde cholangiopancreatography and magnetic resonance cholangiopancreatography. However, about half of individuals are asymptomatic until they receive abnormal results from liver function tests, making the disease difficult to detect.

Some of the coexisting conditions in PSC patients included inflammatory bowel disease and gallbladder diseases, which includes polyps, gallstones, and cancer.

“Because of the complexity of PSC and its associated conditions, caring for these patients can be challenging,” Lazaridis said. “Specialized centers with multidisciplinary expertise and integrated care delivery are necessary for proper treatment of these complex patients.”

Authors stressed the importance of collaboration when it comes to translating scientific discoveries into breakthrough therapies to address PSC unmet needs. The article highlighted that there are several treatments currently in the works, including synthetic bile acids and monoclonal antibodies.

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