The health care experience of adults with metabolic dysfunction–associated steatohepatitis and influence of PNPLA3: A qualitative study

Background: Metabolic dysfunction–associated steatohepatitis (MASH) is a progressive form of metabolic dysfunction–associated steatotic liver disease, for which there is limited information about patient experience, including the patient journey. Methods: In this study, we conducted interviews with patients with MASH to qualitatively evaluate the patient journey and help elucidate the experiences of this patient population. We also investigated if the patatin‐like phospholipase domain‐containing protein 3 (PNPLA3) I148M variant (non-Hispanic) or being of Hispanic ethnicity may influence patient experiences because these 2 subgroups develop advanced liver disease more frequently than other patient groups. Results: One-to-one interviews were conducted with 28 adults (with PNPLA3 I148M genetic variant, n = 10; Hispanic, n = 8) living in the United States who had been diagnosed with MASH with liver fibrosis. Patients were asked open-ended questions about their experiences before, at, and after their diagnosis. The data collected found that patients experienced a long process of misdiagnoses before their diagnosis of MASH, a lack of clear information provided by clinicians, and limited accessibility to support groups. Hispanic patients reported “impact on family/friends” (75%) and “fear of disease progression” (75%) more frequently than the other patient cohorts interviewed. This is the first report of “fear of progression” in patients with MASH. No patients who were White and had the PNPLA3 I148M variant reported nausea/vomiting, in contrast to other patient cohorts. Conclusions: This qualitative study identified key aspects of the patient journey that are important for clinical providers and medical teams to recognize. We also propose a new algorithm that could be developed to help screen relatives of patients who are found to carry the PNPLA3 I148M variant.