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Nomenclature update NAFLD to MASLD, NASH to MASH liver diseases #1245

Closed lschriml closed 10 months ago

lschriml commented 1 year ago

Request shared via MGI, from EFO user:

Looking at support/documentation for this nomenclature update, details below, I think there is enough support to update the two names, keeping the older names as exact synonyms.

-- noting in PubMed that "'non-alcoholic fatty liver disease' (NAFLD)" is still being commonly used.

A 2023 paper: https://pubmed.ncbi.nlm.nih.gov/36976456/ https://link.springer.com/article/10.1007/s13105-023-00954-4 states: the nomenclature of non-alcoholic fatty liver disease (NAFLD) has been updated to MAFLD.

https://pubmed.ncbi.nlm.nih.gov/36926229/ -Metabolic-associated fatty liver disease: New nomenclature and approach with hot debate https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10011913/ An international panel recently proposed an update to the terminology and diagnostic criteria for fatty liver disease. The experts proposed a change in the nomenclature from non-alcoholic fatty liver disease (NAFLD) to metabolic (dysfunction)-associated fatty liver disease (MAFLD).

https://www.aasld.org/new-nafld-nomenclature

allenbaron commented 1 year ago

John Clarke (ORCID:0000-0003-3835-7761), a researcher I know who studies NAFLD, told me the American Association for the Study of Liver Diseases (AASLD) is an authoritative source and has officially updated its nomenclature.

The AASLD points to publication of "A multi-society Delphi consensus statement on new fatty liver disease nomenclature" in Hepatology (https://pubmed.ncbi.nlm.nih.gov/37363821/). This exact article has been published across multiple journals, including the Journal of Hepatology (https://pubmed.ncbi.nlm.nih.gov/37364790/; European) and the Annals of Hepatology (https://pubmed.ncbi.nlm.nih.gov/37364816/; international). It seems there is consensus though there remains some controversy (example: https://pubmed.ncbi.nlm.nih.gov/37683734/).

The proposed changes involve revision of nomenclature and definitions (with new definitions estimated to overlap with the old in 98% of cases). I wonder if, given the revision of definitions, it would be better to obsolete NAFLD and NASH and to replace them with MASLD and MASH instead of simply making them synonyms?

Here's what the paper described as the new consensus:

  1. Revise ‘fatty liver disease’ (DOID:9452)

    • Rename to 'steatotic liver disease'
    • Expand children to include all disease etiologies that cause hepatic steatosis including alcoholic, non-alchoholic (now 'metabolic dysfunction-associated’), viral, etc.
    • No official definition was given in this publication but it looks like most definitions for fatty liver disease describe it as having an intrahepatic fat ≥5% of liver weight.

  2. Revise 'non-alcoholic fatty liver disease' (DOID:0080208)

    • As noted, MAFLD ('metabolic-associated fatty liver disease' OR 'metabolic dysfunction-associated fatty liver disease') was previously proposed and has been used in literature but it had a different definition and was not accepted as the consensus (https://pubmed.ncbi.nlm.nih.gov/37634892/). We’ll probably want to include it as a synonym.
    • Rename to 'metabolic dysfunction-associated steatotic liver disease' (MASLD)
    • Re-define (summarized with help from https://pubmed.ncbi.nlm.nih.gov/37634892/):

A steatotic liver disease characterized by hepatic steatosis in conjunction with at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:

  1. Body mass index≥ 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); or waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric).
  2. Fasting serum glucose ≥ 5.6 mmol/L, 2-hr post-load glucose levels ≥ 7.8 mmol/L, glycated hemoglobin (HbA1c) ≥ 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose ≥ 11.1 mmol/L (pediatric only).
  3. Blood pressure ≥ lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age ≥ 13 years); or specific hypertensive drug treatment.
  4. Plasma triglycerides ≥ 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age ≥ 10 years); or lipid lowering treatment.
  5. Plasma high-density lipoprotein cholesterol ≤ 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment.

This definition encompasses both MASLD & pediatric MASLD but maybe we should consider them two distinct diseases?

  1. Rename 'non-alcoholic steatohepatitis' (DOID:0080547) to 'metabolic dysfunction-associated steatohepatitis' (MASH)

    • No definition was included for MASH but the intent is that it keep the same relationship that NAFLD/NASH had so the definition doesn't need to change, only the parent.

  2. Add a disease, exclusive of MASLD, for patients with combined etiology of MASLD & ALD, i.e. greater alcohol use with cardiometabolic risk factors.

    • New acronym ‘MetALD’
    • New name was not clearly specified. My guess at its intended name is either 'metabolic dysfunction- and alcohol-associated steatotic liver disease', based on the MAASLD acronym that was only avoided due to perception, or possibly 'metabolic dysfunction and alcohol-related liver disease', based on the name for ALD plus the newly included 'metabolic dysfunction' terminology.
    • Given the intention of the article and the spectrum of disease this is supposed to capture, this disease should probably be classified as a sibling of MASLD instead of a child.
    • A possible definition: 'A steatotic liver disease characterized by hepatic steatosis with at least one of the cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males).'
    • A few additional articles about MetALD:

  3. Add 'cryptogenic steatotic liver disease' (cryptogenic SLD) as a new disease grouping for patients with hepatic steatosis that do not have identifiable etiology and do not meet the criteria of other SLDs.

    • I'd probably add this a narrow synonym of 'steatotic liver disease' instead of as its own disease because 1) the DO has generally avoided the 'not otherwise specified' (NOS) disease categorizations, with ambiguous diseases generally being handled by the hierarchical graph structure, and 2) at some future point where all etiologies are identified, we would either need to keep 'crytogenic SLD' as a parent of those diseases to maintain tagged data linkages, or obsolete it and put a replace_by pointer to 'steatotic liver disease'.

Does the DO have a disease for alcohol-associated/related liver disease (ALD)? I couldn't find it, though I did see later progressions of the disease, i.e. 'alcoholic liver cirrhosis' (DOID:14018).

sbello commented 12 months ago

@allenbaron I think the existing definitions of NASH and NAFLD are sufficiently broad and vague that this update would be more of a refinement then an obsolete and replace.

Agree with not adding the cryptogenic term. That sort of thing is why we have a generic parent that can be used in annotations.

While you are in there would you also please add nonalcoholic ... synonyms to the terms. Currently most just have non-alcoholic as the term label and often in the literature the non-hyphenated spelling is used. Having the alternate synonyms in there helps with search.

allenbaron commented 10 months ago

There may be updates needed to similar alcohol-associated diseases (e.g. 'alcoholic liver cirrhosis' (DOID:14018) and 'alcoholic hepatitis' (DOID:12351)) but these revisions have been implemented.