Fatty liver disease is a condition characterized by the accumulation of fat in the liver and is the most common chronic liver disease, affecting more than one billion people. Over time, this can lead to complications such as cirrhosis, liver failure, liver cancer, and heart health problems. The disease is now known as metabolic-associated fatty liver disease (MAFLD). This is because the disease is now understood to be linked to metabolic factors, such as obesity, insulin resistance and diabetes .
MAFLD is a multisystem disorder with a heterogeneous disease course and outcomes. This means it can affect multiple organs and the course of the disease can vary from person to person. Some people with MAFLD may have no symptoms, while others may develop serious complications, such as liver cirrhosis or liver cancer. The diagnosis of MAFLD is often delayed, sometimes for decades. This is because the disease is usually asymptomatic in the early stages. Additionally, there is no single test that can definitively diagnose MAFLD.
Early diagnosis of MAFLD is essential for effective treatment. This is because early treatment can help prevent disease progression and the development of complications. Many pharmacological and non-pharmacological treatments may be more effective in the early stages of the disease. For example, lifestyle changes, such as losing weight, eating a healthy diet, and exercising regularly, can help improve liver function and reduce the risk of complications.
It is important to stratify patients to develop effective treatments. This means grouping patients based on their individual characteristics, such as the severity of their disease, risk of complications, and response to treatment. This will help ensure that patients receive the most appropriate treatment for their individual needs.
A new set of diagnostic criteria has been developed for MAFLD. An international group of experts developed these criteria to help address these issues. The criteria apply to all ages and consider age-related factors. This means they can be used to diagnose MAFLD in people of all ages, from children to adults.
Diagnostic Criteria for Metabolic Associated Fatty Liver Disease (MAFLD) (Dysfunction) in Adults and Children Diagnostic criteria for MAFLD in adults. The diagnosis of MAFLD is made if there is evidence of hepatic steatosis plus one of the following three criteria:
Diagnostic criteria for MAFLD in children. The diagnosis of MAFLD is made if there is evidence of hepatic steatosis plus one of the following three criteria:
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The new diagnostic criteria for MAFLD have fulfilled their promise. This is because they are accurate and reliable in diagnosing MAFLD and identifying patients at high risk for disease complications.
The development of the new criteria has created positive momentum for change. This is because it has raised greater awareness about MAFLD and paved the way for future research and clinical trials. Therefore, the new criteria represent an important step forward in the diagnosis and treatment of this disease.
Can the name of a disease be separated from its definition?
This is an important question because diagnostic criteria are created specifically to diagnose a disease. Therefore, both name and definition are closely related and a disease will be misdiagnosed unless it has been properly defined. No one would claim that if a definition allows a condition to be identified, a real disease did not exist before. Even in the case of NAFLD, it started with cases where something was defined as “a pathology” and was subsequently given a set of medical criteria for diagnosis. In this context, the change from NAFLD to MAFLD was first proposed. Naturally, this led to the second question: How will MAFLD be diagnosed if it’s more than just a name change? Based on this, a fundamental question is: does the set of proposed criteria manage to capture the population in which the term MAFLD disease is used? The answer is clearly yes.
There has been a recent argument that the proportion (0%–4%) of lean patients with fatty liver but without MAFLD (i.e., without metabolic dysfunction) is a limitation of the definition of MAFLD. Aside from the fact that these patients could have another etiology, such as insufficient alcohol or drug intake, evidence suggests that the risk of fibrosis, cardiovascular disease, and mortality in this population is no different from that of the general population. It is only so when these individuals progress further along the disease pathway acquiring additional metabolic risk factors that have a different outcome than the general population. Therefore, it is a fallacy to consider that a name can be separated from its definition.
Not only will knowledge be preserved, but it will increase
Will the change to MAFLD result in a loss of prior knowledge? We maintain that knowledge will not only persevere but will increase. We know that there is a large overlap between NAFLD, as defined above, and MAFLD. A recent study in a population of veterans in primary care settings demonstrated 100% agreement between the two definitions. Furthermore, a meta-analysis that included data from 17 studies covering 9,808,677 people showed that the prevalence of MAFLD was comparable to the prevalence of NAFLD. Only 4.0% of NAFLD patients did not meet the criteria for MAFLD. It is logical that the knowledge generated under the term NAFLD will be carried over to the new term MAFLD. Was any knowledge lost when the term acute coronary syndrome was introduced?
Is hepatology the first field to change diagnostic criteria? Virtually all common and rare diseases have undergone changes in diagnostic criteria and treatment goals with advances in knowledge. One wonders what is the value of accumulating knowledge if it does not contribute to change. Fear of change simply creates inertia towards progress. It is similar to switching from Windows 6 to 11, meeting the current needs of our patients. In this context, early reports demonstrated increased patient and physician awareness with the introduction of MAFLD.
Similarly, patients diagnosed according to the new criteria for multiple sclerosis showed a lower risk of achieving disability. In the field of drug development , one example is the change in diagnostic criteria for eosinophilic esophagitis implemented in 2018 that removed the requirement for the use of proton pump inhibitors (PPIs) for a diagnosis of eosinophilic esophagitis and eosinophilic esophagitis. coexisting gastroesophageal reflux. The previous requirement for PPI testing arose from the belief that the two entities were mutually exclusive. Multiple clinical trials were underway at the time of the change and in May 2022, the Food and Drug Administration (FDA) approved Dupixent (dupilumab) as the first treatment for eosinophilic esophagitis. The case of MAFLD is no different. Try it and reap benefits for patients, patient groups and hepatology. The future of the field is bright, if only we could reflect on the evidence.