Primary sclerosing cholangitis (PSC): symptoms, diagnosis and treatment

Many people have no symptoms at first, and the disease is only discovered because of abnormal routine blood tests, often in someone being monitored for ulcerative colitis or Crohn's disease. Liver UK lists tiredness and some discomfort in the right upper abdomen as common early symptoms, and itching, jaundice and episodes of fever, shaking and chills as later symptoms.

PSC Support reports that those who do have symptoms most often describe fatigue, brain fog, pain and itch. Fatigue is the commonest symptom. Jaundice means yellowing of the skin and whites of the eyes. Fever with shaking chills can signal infection of the bile ducts, which PSC Support calls bacterial cholangitis and describes as serious.

• Fatigue and mental fog that are out of proportion to activity.

• Itch, which can be distressing.

• Upper right abdominal discomfort.

• Jaundice in later disease.

• Fever with rigors, needing prompt assessment.

Liver UK describes primary sclerosing cholangitis as an uncommon chronic liver disease in which the bile ducts inside and outside the liver progressively decrease in size because of inflammation and scarring, known as fibrosis. As the ducts narrow, bile drains less well. Over years this can damage the liver and, in some people, lead to cirrhosis. The course is highly variable: some people have few symptoms for many years while others progress faster.

The cause remains unknown. Liver UK says current evidence suggests the disease may be triggered by an unknown bacterium or virus in people who are genetically predisposed, and that the common hepatitis viruses have not been associated with it. It also says PSC is not related to alcohol in any way, a point worth stressing because liver disease is often assumed to be alcohol-related.

PSC is closely associated with inflammatory bowel disease. Liver UK says it is usually ulcerative colitis but can also be Crohn's disease, and that the colitis course is often very mild with few flare-ups. PSC Support gives the frequency: around 70% to 80% of people with PSC have IBD, and its presence is a strong indicator to check for PSC. Nearly a quarter will have or develop another autoimmune condition.

The practical consequence runs in both directions. People with IBD who have persistently abnormal liver blood tests are investigated for PSC, and people with PSC are checked for bowel disease. Liver UK adds that bowel cancer appears to develop more frequently in people with colitis who also have PSC, and that regular yearly examination of the colon by colonoscopy is recommended.

PSC Support says there is no single diagnostic blood test, so doctors piece together clues from medical history, blood tests, symptoms and scans. Liver blood tests often show a pattern of bile duct injury, though they can look normal in some people, so blood tests alone can neither diagnose nor exclude PSC. If PSC is suspected, MRCP, a type of MRI scan that looks closely at the bile ducts, is described as the test of choice; it typically shows an irregular, beaded appearance with narrowings and widenings.

A liver biopsy is rarely needed when the MRCP is typical, and is occasionally taken when small duct PSC, IgG4-related disease or autoimmune hepatitis is suspected. Liver UK describes the same combination of symptoms, blood tests and bile duct images, and says a GP who suspects the condition will refer to a hospital specialist for tests, advice and treatment.

Liver UK says there is at present no known cure or specific treatment for PSC, and that clinical trials are under way to try to find treatments. Symptoms such as itching can be treated with agents such as cholestyramine, rifampicin or naltrexone. Dry mouth and dry eyes can be helped with lozenges and artificial tears. Fat-soluble vitamins A, D, E and K may need replacing in advanced disease, with the specialist team advising which products to use.

Endoscopic treatment of the bile ducts, usually by stretching narrowed ducts, aims to reduce or halt progression of blockage. For a few people who go on to advanced cirrhosis, a liver transplant may be recommended when quality of life has deteriorated and medical treatment can no longer control symptoms; because PSC usually develops slowly, Liver UK says transplantation can generally be planned well ahead.

PSC Support makes the same point: there are no effective medical treatments available for PSC today and no licensed drug yet, although some people are prescribed UDCA (ursodeoxycholic acid). It stresses that symptoms can be managed and should not be ignored, and that for people who progress to significant liver damage or symptoms that cannot be properly treated, liver transplant is an excellent option.

PSC Support says bacterial cholangitis in PSC is an infection of the bile ducts requiring urgent medical treatment. Liver UK describes episodes of fever, shaking and chills as a late symptom. If you have PSC and develop fever with shaking and chills, do not wait for a routine appointment: contact your specialist team, NHS 111 or an emergency department.

PSC Support says jaundice is rare in PSC, but that you should contact your PSC doctor urgently if you suddenly and quickly develop it. The NHS says that anyone whose skin or the whites of the eyes look yellow should ask for an urgent GP appointment or get help from NHS 111, as it can be a sign of something serious such as liver disease.

Liver UK says PSC may occasionally be complicated by bile duct cancer, and PSC Support notes that doctors will test to exclude IgG4-associated cholangitis and sometimes cholangiocarcinoma as these can mimic or complicate PSC. This is part of the reason new or worsening symptoms, weight loss or jaundice are reported rather than put down to the underlying disease.

Living with a long-term, unpredictable condition can weigh on mood; PSC Support highlights depression and anxiety as part of the symptom picture, alongside fatigue, itch and pain. Liver UK advises checking with the specialist team about alcohol, medicines and supplements, because liver function may affect how they are handled. Dietary advice may be needed if fat is poorly absorbed.

Liver UK says that if your GP suspects PSC you will be referred to a hospital specialist for tests, expert advice and treatment, and PSC Support advises that where there is any doubt about the diagnosis you should ask to be referred to a hospital or doctor with experience or an interest in PSC.

Care is usually shared between a hepatologist or gastroenterologist and your GP, often with bowel surveillance and specialist nursing. Private liver specialists can arrange MRCP scans and consultations, but long-term monitoring and any transplant assessment run through NHS liver services, so it helps to make sure results are shared with your GP and NHS team.