P2194 - It Is Good to Know if You Glow: A Scoping Review of ALDH2 Mutations and Guidelines for Esophageal Cancer

Heng K. Nhoung, MD¹, WonKyung Cho, MD, MPH², Theodore Feldman, PhD^3
1Northwell Health, Long Island City, NY; ²Long Island Jewish Medical Center, Forest Hills - Northwell Health, New York, NY; ³VA Boston Healthcare System, Boston, MA

Introduction: People with ALDH2 deficiency, known as Alcohol Flushing Syndrome or “Asian Glow” are unable to metabolize alcohol properly, and thus are exposed to higher acetaldehyde levels. ALDH2 is a mitochondrial enzyme found in the liver and mucosa of the upper intestinal tract and is responsible for the oxidation of acetaldehyde. Globally, this deficiency affects 540 million people — 8% of the world population. People with ALDH2 deficiency are 2 to 12 times more likely to develop esophageal cancer compared to people with normal ALDH2.

Methods: We searched Electronic Databases: PubMed, Embase. Using keywords and MeSH terms including "esophageal cancer", "ALDH2 mutations", "screening", "screening guidelines", "genetic mutations", "esophageal neoplasms", etc. We included guidelines for esophageal cancer screening. We excluded studies not addressing esophageal cancer screening and studies not published in English. Two reviewers independently screened titles and abstracts of the identified studies.

Results: Guidelines in Europe did discuss alcohol as a risk factor; with differences in diet/lifestyle leading to high rates of esophageal cancer but did not have screening recommendations. The Chinese national screening guideline for esophageal cancer recommends endoscopy screening for high-risk groups including age of >40, live in endemic regions, family history, and, pickled food, and poor dental hygiene.In Japan, guidelines focused on risk factors including drinking/smoking. Korean alcohol use guideline recommends decreased intake of alcohol by half in those with flushing rection.The NCCN guidelines (USA) and Canada focuses on screening those with genetic mutations such RHBDF2, Familial Barrett esophagus (FBE) Bloom syndrome, Fanconi anemia, those with BE, history of GERD, age >40, and are white. Other studies ranged in quality from meta-analysis of esophageal cancer risk to prospective studies proposing screening through MCV and acetaldehyde breath testing.

Discussion: ALDH2 has been studied mostly in East Asian countries. Despite meta-analysis and case-control studies showing the increased risk of esophageal cancer with ALDH2 mutation, no guidelines mention ALDH2 as a risk factor of esophageal cancer. Guidelines mostly emphasized alcohol usage as a significant modifiable risk factor. Recent studies highlight potential use of MCV levels and a novel acetaldehyde breath test to further identify high-risk patients for esophageal cancer that may benefit from early screening.



Disclosures:


Heng K. Nhoung, MD¹, WonKyung Cho, MD, MPH², Theodore Feldman, PhD³. P2194 - It Is Good to Know if You Glow: A Scoping Review of ALDH2 Mutations and Guidelines for Esophageal Cancer, ACG 2024 Annual Scientific Meeting Abstracts. Philadelphia, PA: American College of Gastroenterology.