Rare Forms of SLD: Study into Rare forms of Steatotic Liver Disease

Non-alcoholic fatty liver disease (NAFLD) is now the most common form of liver disease worldwide, driven by obesity and diabetes. In a proportion of patients, NAFLD progresses to an inflammatory condition, known as non-alcoholic steatohepatitis (NASH), leading to scar formation, known as fibrosis and cirrhosis. To date, there are no known effective treatments for NAFLD, partly because the underlying disease process is poorly understood. Whilst the majority of patients are obese, and come to medical attention later on in life, up to a fifth of patients are slim, and the condition sometimes occurs in childhood. We think that such patients are likely to have stronger genetic drivers of disease compared to the rest of the population, meaning that they develop the condition at a much faster rate (children) or in the absence of obesity (lean NAFLD). We propose to study people with NAFLD arising in these unusual circumstances. Participants will be invited to attend our dedicated Translational Research Facility for scans determining how much of the body consists of muscle and fat, and how much fat and scarring is contained within the liver. This will be followed by blood tests to test for fats, sugars and hormones in the blood as well as faulty genes, which could be contributing to the development of NAFLD. The findings will help us gain new insights into the drivers of disease, and has the potential to inform novel therapeutic strategies.