# New Genetic Study Sheds Light on Achalasia: An Important Swallowing Disorder Affecting Older Adults
Achalasia is a progressive disorder that affects the ability to swallow, as the esophagus gradually loses its ability to move food toward the stomach. While it can occur at any age, many patients are diagnosed later in life, and the condition has important implications for geriatric care. Difficulty swallowing can lead to malnutrition, weight loss, aspiration pneumonia, and social isolation—all critical concerns for older adults’ physical and mental well-being. Despite decades of clinical observation, the root causes of achalasia have remained largely mysterious. This first-ever large-scale genetic study of 4,602 patients with achalasia offers groundbreaking insights: the condition appears to be driven primarily by immune system dysfunction rather than being simply a mechanical problem.
The study identified several genetic variations that significantly increase achalasia risk, with the strongest effects found in genes that control immune system function. The most important discovery involves the HLA system—a group of genes that help the immune system distinguish the body’s own cells from foreign invaders. A specific genetic variant in the HLA-DQB1 gene more than doubles a person’s risk of developing achalasia. Beyond this, variations in genes called PTPN22, TNFSF8, TNFSF15, and TNC—all involved in immune regulation—also contribute to disease risk. Particularly revealing was the finding that a specific type of memory immune cell (CD8+ T-cells) appears to play a central role in attacking the nerve cells in the esophagus. Additionally, achalasia shares genetic similarities with Crohn’s disease, another immune-mediated condition, further supporting the immune connection.
For older adults with achalasia and their healthcare providers, these findings represent an important paradigm shift. Understanding that achalasia has an immune basis opens new avenues for treatment beyond the current approaches, which focus solely on managing symptoms through procedures that stretch or bypass the malfunctioning esophageal valve. Geriatric psychiatrists and mental health professionals should be aware that patients experiencing progressive swallowing difficulties may face anxiety, depression, and reduced quality of life related to eating and social situations. The genetic insights may eventually lead to earlier diagnosis through genetic risk screening and potentially immune-targeted therapies that could slow or prevent disease progression. For families and caregivers, understanding the immune-mediated nature of achalasia may reduce self-blame and provide context for why standard dietary modifications alone aren’t sufficient.
Looking forward, the ability to calculate an individual’s genetic risk for achalasia could help identify high-risk individuals before symptoms become severe. This is particularly relevant for older adults who may already face multiple health challenges and for whom early intervention could prevent the cascade of complications associated with chronic swallowing difficulties. As our understanding of the immune mechanisms deepens, there is hope for developing targeted treatments that address the underlying cause rather than just managing symptoms—a potential game-changer for improving both physical health and psychological well-being in affected older adults.
Source Information
Original Title: First genome-wide association study reveals immune-mediated aetiopathology in idiopathic achalasia.
Authors: Grover S, Gockel I, Latiano A, Mokrowiecka A, Dasmeh P
Journal: Gut (Oct 2025)
PubMed ID: 41136183
DOI: 10.1136/gutjnl-2024-334498
This summary was generated using AI to make recent geriatrics and frailty research more accessible. Please refer to the original article for complete details.
