Non-invasive diagnosis of MASH without requiring a liver biopsy

MASH

Metabolic dysfunction-associated steatohepatitis (MASH), formerly known as non-alcoholic steatohepatitis (NASH), is a fatty liver disease. It is characterized by inflammation and damage to liver cells caused by a build-up of fat. It's a more severe form of metabolic dysfunction-associated steatotic liver disease (MASLD), which broadly encompasses various degrees of fat accumulation in the liver. (1)

In the US, there are 17 mil MASH patients (2). This number is expected grow to 27 mil by 2030. Worldwide, 115 mil patients have NASH. In the US, 28 mil patients are diagnosed with Type 2 Diabetes (T2D). American Diabetes Association recommends all T2D patients to test for MAFLD/MASH. An estimated 37% or 10.3 mil patients have MASH+T2D. Annual costs of healthcare are $10,919 for patients with NASH only and $22,213 for patients with NASH + T2D. 

(1) American Liver Foundation: https://liverfoundation.org/liver-diseases/fatty-liver-disease/nonalcoholic-steatohepatitis-nash/nash-definition-prevalence/
(2) Modeling the epidemic of nonalcoholic fatty liver disease demonstrates an exponential increase in burden of disease, Estes, C., Razavi, H., Loomba, R., Younossi, Z., Sanyal, A., Hepatology 67, 123 (2018).
(3) The incremental cost of non-alcoholic steatohepatitis and type 2 diabetes in the United States using real-world data, Fishman J, Tapper EB, Dodge S, et al., Current Medical Research and Opinion, 39, 1425 (2023).

As a silent and progressive disease, MASH can often remain undetected until the disease has already progressed to more serious and life-threatening stages. Early detection is one of the biggest challenges related to NASH diagnosis & management.

EARLY DETECTION PROBLEM

According to a recent study, as many as 79% of MASH patients are still undiagnosed. (5) The central reason is the symptoms of MASH may be very non-specific (fatigue, daytime tiredness, or abdominal pain) early in the disease. Existence of MASH is usually discovered incidentally (elevated enzyme or abnormal imaging study or surgery).

An ideal solution may be a portable POC (point-of-care) device, designed for use at doctor’s office (GP or PCP) for screening patients at risk for MASH (e.g. patients with metabolic syndrome). FemtoDx is developing a noninvasive MASH marker (6) test. 

(5) Disease burden and economic impact of diagnosed non-alcoholic steatohepatitis (NASH) in the United Kingdom (UK) in 2018, Alice Morgan et al., Eur J Health Econ. 22, 505 (2021).
(6) Biomarkers for staging fibrosis and non-alcoholic steatohepatitis in non-alcoholic fatty liver disease (the LITMUS project): a comparative diagnostic accuracy study, Y. Cali et al, ancet Gastroenterol Hepatol., 8, 714 (2023).