The early symptoms of PBC are consistent with those of liver function deterioration and include extreme fatigue and intense pruritus (itching skin). Many sufferers also report dry eyes and mouth, aching joints, diarrhoea and pain in the upper right part of the abdomen, while some may also have an over- or under-active thyroid gland. In the later stages of the disease, symptoms may include pale stools, dark urine, abdominal swelling, jaundice and bruising easily.

PBC is diagnosed using an antimitochondrial antibody (AMA) blood test, which sometimes requires confirmation with a liver biopsy. Following diagnosis, x-ray or ultrasound scans are carried out to determine the extent of the bile duct deterioration and liver damage. PBC cannot be cured but it is possible to slow down its progression with ursodeoxycholic acid, while other treatments are available to ease the symptoms.

Early detection and diagnosis is vital to reduce the risk of liver damage and improve long-term patient outcomes. Around 5 per cent of all liver transplants in the UK each year are carried out on PBC sufferers, but those who receive treatment with ursodeoxycholic acid only have a 35 per cent chance of suffering severe liver inflammation. Untreated PBC can also lead to scarring of the skin due to scratching.

According to a survey by the PBC Foundation, with support from Dr Falk Pharma UK, sufferers wait for an average of two years and three months from first visiting their GP with symptoms to receiving a correct diagnosis. Three-quarters of PBC patients consult their GP within the first six months of symptom onset and 86 per cent do so within one year, suggesting that there is a lack of awareness among GPs about the condition and its symptoms.

“If the symptoms are not picked up, a proportion of women will sustain liver damage. Even for those who do not, they are still often living with very miserable symptoms every day, which can lead to a real reduction in quality of life. Symptoms such as fatigue, brain fog, itch and generalised joint pain can be very difficult to live with,”
says Dr Gideon Hirschfield, senior lecturer and consultant hepatologist at University Hospitals Birmingham.

“Making an early diagnosis is very important because, for the majority of these women, there is effective treatment.”