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Autoimmune and Cholestatic Liver Diseases

The Autoimmune and Cholestatic Liver Diseases program consists of dedicated experts and support staff committed to caring for patients with rare liver diseases, including Autoimmune Hepatitis (AIH), Primary Biliary Cholangitis (PBC), and Primary Sclerosing Cholangitis (PSC). Patients with liver disease frequently do not have symptoms until there is severe damage to their liver. Our board-certified physicians provide the latest treatment options, including clinical trials offered through the Yale Center for Clinical Investigation, to offer effective results and comprehensive care for patients.

The team of liver doctors (hepatologists) devoted to autoimmune and cholestatic liver diseases take a multidisciplinary approach to care by working closely with specialists in adult and pediatric gastroenterology, advanced endoscopy, transplant hepatology, transplant surgery, pathology, diagnostic and interventional radiology, gastrointestinal surgery, rheumatology, endocrinology, and medical and surgical oncology.

Advanced and Innovative Care

As national and international leaders in the research and treatment of patients with autoimmune and cholestatic liver diseases, our team members provide patients the opportunity to participate in clinical trials, all of which offer new treatment options otherwise unavailable to the general public. Our participation in clinical trials and research help to assure our patients have access to the newest and best treatments available.

We partner with the Yale School of Medicine’s Liver Center, one of only four National Institutes of Health sponsored liver research centers in the United States, and the only center in Connecticut that offers comprehensive patient care for individuals with autoimmune and cholestatic liver diseases.

Liver disease conditions we treat include:

Autoimmune Hepatitis

Autoimmune hepatitis (AIH) is an inflammation of the liver caused by your body’s own immune system, causing inflammation in the liver. This disease can be caused by a combination of environmental triggers, autoimmunity (when the immune system mistakenly attacks the body's own tissues or organs) and genetic predisposition. It can present at any age, ranging from children to the elderly. If left untreated, AIH can lead to severe scarring of liver tissue, also known as cirrhosis. Patients with AIH are at risk of developing cirrhosis and liver failure if the condition is not diagnosed and treated early.

Symptoms

Some patients with AIH have no symptoms, although most patients will have one or more symptoms. Common symptoms of autoimmune hepatitis include:

  • Abdominal pain
  • Fatigue
  • Joint pain
  • Loss of appetite
  • Nausea
  • Skin rashes or itchy skin
  • Yellowing of skin or eyes (jaundice)

Diagnosis

After a thorough look at your health and family history, and an exam by a physician, blood tests are often done to look at liver function. This helps rule out other conditions and see if there is a presence of autoantibodies (antibodies that mistakenly target and attack a person’s own tissue or organs) that might suggest an autoimmune disorder. Ultimately, a liver biopsy is usually required to confirm the diagnosis of AIH and determine the degree of liver damage.

Treatment

Treatment of AIH should be managed by a hepatologist experienced in treatment of this rare liver disease. Treatment is important in order to suppress the immune system since the immune system is overactive in people with this disease. Early treatment can help to slow progression or even reverse damage to the liver. The most commonly used medications include steroids and other immune suppressing medications. Medications should be carefully adjusted to meet the individual needs of the patient in order to control the inflammation and minimize the risk of side effects from medications. In many cases, the condition can be controlled, although in serious cases, a liver transplant may be needed.

Primary Biliary Cholangitis

Primary biliary cholangitis (PBC) is a chronic disease of the liver that slowly destroys the small bile ducts within the liver. Bile is made in the liver and aids in digestion as well as helping your body to get rid of cholesterol, toxins and old red blood cells. However, when bile ducts become damaged, bile becomes backed up in the liver and this leads to inflammation of the liver. If left untreated, PBC can lead to severe scarring of liver tissue, also known as cirrhosis. Patients with PBC are at risk of developing cirrhosis and liver failure if the condition is not diagnosed and treated early.

Symptoms

While some people may not show symptoms when diagnosed, it is important to know the early symptoms, which include:

  • Dry eyes and mouth
  • Fatigue
  • Itchy skin

If not caught early, later symptoms can develop including:

  • Bone, muscle or joint pain
  • Diarrhea
  • Fluid buildup in abdomen
  • High cholesterol
  • Pain in upper right abdomen
  • Swelling of spleen
  • Underactive thyroid (hypothyroidism)
  • Weak and brittle bones
  • Weight loss
  • Yellowing of eyes and skin

Diagnosis

After a thorough look at your health and family history, and an exam by a physician, the following tests and procedures can be used to diagnose PBC:

  • Antibody tests (anti-mitochondrial antibody or AMA)
  • Liver blood tests
  • Magnetic resonance cholangiopancreatography (MRCP)
  • Ultrasound

Occasionally, a biopsy is required although in many patients this is not necessary.

Treatment

Treatment of PBC should be managed by a hepatologist experienced in treatment of this rare liver disease. Medications are available to help slow the progression of PBC, prevent complications and help to reverse some of the injury. Some patients may benefit from clinical trials. If medications are unable to control PBC, or if the condition is detected too late and the liver begins to fail, a liver transplant may be needed.

Primary Sclerosing Cholangitis

Primary sclerosing cholangitis (PSC) is a disease of the bile ducts where inflammation causes scars, also known as strictures, within the bile ducts making them hard and narrow. If untreated, the liver can slowly lose functionality and lead to infection of the bile, and severe scarring called cirrhosis. PSC is also highly related to inflammatory bowel disease (IBD), also known as colitis. Patients with PSC are at risk of developing cirrhosis and liver failure, and of developing bile duct cancer (cholangiocarcinoma) and colon cancer. Patients with PSC are also at risk of developing infection of the bile ducts (acute cholangitis).

Symptoms

Some patients with PSC have no symptoms; however, many patients have symptoms, which can include:

  • Chills
  • Dark colored urine
  • Enlarged liver
  • Fatigue
  • Fever
  • Itching
  • Night sweats
  • Pain in the upper right side of the abdomen
  • Weight loss
  • Yellow eyes or skin (jaundice)

Diagnosis

After a thorough look at your health and family history, and an exam by a physician, the following tests and procedures can be used to diagnose PSC:

  • Liver biopsy in some cases
  • Liver blood tests
  • MRI of bile ducts (also known as MRCP)

Treatment

Management of PSC aims to manage symptoms or complications and monitor any liver damage. This includes screening for bile duct cancer and colon cancer, treatment of bile duct blockages with ERCP, controlling IBD (colitis), treatment of itching, and nutrition support. It is also important to consider new clinical trials given the absence of effective treatments to date. If PSC causes liver failure, a liver transplant may be needed. We also treat patients with other cholestatic liver diseases caused by elevated serum alkaline phosphatases and by viral, drug or genetic disorders.