Rare monogenic causes of steatotic liver disease masquerading as MASLD

With interest we read the Delphi consensus statement on the new fatty liver disease nomenclature.1 The strong link between non-alcoholic fatty liver disease and metabolic dysfunction/insulin resistance has resulted in the inclusion of cardiometabolic risk factors as diagnostic criteria of metabolic dysfunction associated steatotic liver disease (MASLD). When these risk factors are absent, other specific aetiologies of steatotic liver disease, such as monogenic diseases, should be considered.1
Source: Journal of Hepatology - Category: Gastroenterology Authors: Tags: Letter to the Editor Source Type: research