Primary Sclerosing Cholangitis: A Rare But Serious Liver Disease

Primary Sclerosing Cholangitis (PSC) is a rare, progressive disease that attacks and damages the bile ducts of the liver, leading to fibrosis and scarring of the ducts over time. This can cause several complications and eventually lead to liver failure if left untreated. In this article, we will discuss in detail about this serious liver condition.

What is Primary Sclerosing Cholangitis?

Primary Sclerosing Cholangitis (PSC) is a chronic progressive liver disease characterized by inflammation and scarring of the bile ducts within the liver. The inflammation causes the bile ducts to narrow over time which is called “strictures”. As the disease progresses, the bile ducts continue to get scarred and damaged making them swollen and unable to effectively drain bile from the liver. This can lead to a buildup of toxins and cause serious damage to the liver. The exact cause of PSC is still unknown but it is considered an autoimmune disease where the immune system attacks the bile ducts for unknown reasons.

Symptoms

The symptoms of Primary Sclerosing Cholangitis can vary greatly between individuals and may also change over time. Some of the common initial symptoms include fatigue, itchy skin, abdominal pain in the right upper part of the abdomen, clay/pale stool color and dark urine. As the disease progresses, jaundice with yellowing of eyes and skin, weight loss and fever can occur. Symptoms tend to come and go in the early stages but gradually worsen with disease progression. Advanced PSC can lead to complications like liver failure, increased risk of liver cancer and other health issues.

Risk Factors and Association with IBD

- PSC occurs more commonly in men than women with an average age of diagnosis between 30-40 years.

- It is associated with inflammatory bowel diseases (IBD) like ulcerative colitis in around 75-80% of cases. Patients with IBD have a higher risk.

- Family history of IBD or PSC increases the risk slightly. First-degree relatives have 2-3 times higher risk.

- Patients with primary sclerosing cholangitis are also at an increased risk of developing colon cancer or bile duct cancer even in absence of IBD. Therefore, close monitoring is important.

Diagnosis

Since symptoms of PSC are non-specific, diagnosis may sometimes be challenging in early stages. Doctors may suspect PSC if blood tests detect abnormal liver enzymes and other liver function abnormalities. Imaging tests like abdominal ultrasound, MRI/MRCP or CT help identify characteristic features of PSC like stricturing and dilatations in the bile ducts. The gold standard for diagnosis is Endoscopic Retrograde Cholangiopancreatography (ERCP) where a small camera is used to directly visualize the bile ducts. Liver biopsy may also be done in some cases to confirm the diagnosis by showing inflammatory and scarring changes.

Treatment and Management

Currently there is no cure for Primary Sclerosing Cholangitis but several treatments are used to slow progression and relieve symptoms:

- Ursodeoxycholic acid (UDCA): This is the standard first line treatment recommended for all patients. UDCA helps reduce inflammation and progression in about 30% of cases.

- Endoscopic or surgical procedures: Endoscopic ballooning or surgical repairs may be done to widen strictured bile ducts and improve drainage if severe obstruction occurs.

- Liver transplant: If liver function deteriorates significantly despite medical therapy, liver transplant offers the only chance at long term survival. Lifelong immune suppression post transplant is required.

- Symptomatic relief: Medications are used to relieve itching, antibiotics for infections and steroids can help patients with severe inflammation.

- Screening: Regular screening with bloodwork, imaging and endoscopy help monitor progression and detect complications early. Colonoscopies screen for IBD related colon cancer risk.

Prognosis

PSC is a chronic progressive disease with variable rates of progression between patients. Overall 10-year and 20-year patient survival after diagnosis is estimated to be around 60-80% and 30-60% respectively. Factors like severity of symptoms at diagnosis, presence of complications and association with IBD impact prognosis. Liver transplantation can provide long term survival benefit for eligible patients with end stage liver disease but recurrence of PSC in transplanted liver poses some risk. With good medical management and regular monitoring, many patients enjoy near normal lifespan despite this serious condition. Early diagnosis and treatment remain key to slowing disease course.

Conclusion

In summary, Primary Sclerosing Cholangitis is a rare chronic liver disease of unknown cause that results in inflammation and scarring of the bile ducts. It can cause progressive liver damage if left untreated. While there is no cure yet, appropriate management including medications, endoscopic interventions and transplant surgery can help relieve symptoms, improve liver function and quality of life for many patients. With ongoing research focus on understanding disease mechanisms, developing better non-invasive diagnostic tools and exploring novel drug targets, more effective long term treatment options for PSC could be available in the future.

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