What is achalasia?
Achalasia is a rare, chronic disorder of the esophagus that impairs swallowing due to nerve damage in the esophageal muscles. The condition is caused by the progressive degeneration of nerve cells, which leads to two key problems: a failure of the lower esophageal sphincter (LES) to relax and a loss of peristalsis (the coordinated muscle contractions that move food). As a result, food and liquid have trouble passing into the stomach and can get backed up in the esophagus, leading to regurgitation, chest pain, and weight loss over time.
Adult age of onset
Most cases of achalasia are diagnosed in adulthood, with a peak incidence between 30 and 60 years of age.
- Typical onset window: Research shows a broad diagnostic window for adults. A study in South Korea found a median age of onset of 51.7 years, while another found a median age of diagnosis of 59 years. A Japanese review noted that the mean age at diagnosis was around 50 years or more.
- Delayed diagnosis: The insidious nature of achalasia means that diagnosis is often significantly delayed. A retrospective study of patients found a median diagnostic delay of 24 months from the onset of symptoms, with many patients experiencing delays of several years. It is frequently misdiagnosed as gastroesophageal reflux disease (GERD) because of overlapping symptoms like heartburn and regurgitation.
- Risk factors: While the exact cause is unknown, certain factors may increase risk. In adults, this includes a possible autoimmune component, a history of viral infections (like herpes simplex), and a potential genetic predisposition.
Pediatric age of onset and symptoms
Although far less common, achalasia can affect children, with less than 5% of cases occurring in people under 15.
- Wide range: The condition can manifest at any time during childhood, from infancy onward. Pediatric studies have found a median age of diagnosis for esophageal achalasia around 12 years, though initial symptoms can appear much earlier.
- Atypical symptoms: Pediatric achalasia is often harder to diagnose due to atypical symptoms that overlap with other conditions. Young children and infants may present with feeding difficulties, poor weight gain (failure to thrive), and respiratory issues like recurrent pneumonia and chronic cough. This frequently leads to misdiagnosis, with some studies reporting children were treated for GERD or asthma for years before the correct diagnosis was made.
- Syndromic achalasia: In children, achalasia can be linked to other syndromes, such as Allgrove (Triple A) syndrome, which combines achalasia with adrenal insufficiency and alacrima (reduced tear production), and Down syndrome. Syndromic achalasia is more common in younger age groups.
Age-related differences in achalasia
The clinical presentation and progression of achalasia can vary depending on age. Here is a comparison of typical achalasia symptoms and characteristics in different age groups.
| Feature | Adults (25-60 years old) | Older Adults (60+ years old) | Children/Teens (<25 years old) |
|---|---|---|---|
| Primary Symptoms | Dysphagia (solids and liquids), regurgitation, chest pain, and weight loss. | Pronounced weight loss, rapid symptom development, and higher risk of pseudoachalasia from tumors. | Feeding difficulties in infants, poor weight gain, regurgitation, chronic cough, and recurrent respiratory infections. |
| Symptom Duration Before Diagnosis | Often years, with a median delay of 24 months or more. | Can be shorter if weight loss is significant and progression is rapid. | Highly variable, often delayed by years due to misdiagnosis. |
| Etiology | Most cases are idiopathic (unknown cause), though autoimmune or viral factors are suspected. | Often idiopathic, but higher concern for pseudoachalasia caused by malignancy. | Frequently idiopathic but more likely to be syndromic and associated with genetic conditions. |
| Diagnosis Challenges | May be misdiagnosed as GERD due to symptom overlap. | More complex differentiation from other age-related conditions. | Often confused with GERD, asthma, or eating disorders. |
The long road to diagnosis
Despite advancements in diagnostic tools like high-resolution manometry (HRM), achalasia often goes undiagnosed for a significant period. Patients with milder, less specific symptoms are particularly at risk for delays, as their condition may not immediately raise suspicion. One study highlighted that the median time from symptom onset to diagnosis was nearly two years, a timeframe that has not significantly improved over the last 25 years.
For children, the path to diagnosis can be even longer. The rarity of the disease, combined with symptoms that mimic more common childhood ailments, often means a protracted course of misdiagnoses. Awareness among clinicians about the varying presentations of achalasia across different age groups is crucial for improving early detection and preventing long-term complications.
Conclusion
Achalasia is an esophageal disorder that can affect individuals of any age, but it most frequently manifests in adults between 25 and 60. The age of onset, along with the specific symptoms, often differs between adults and children, influencing the path to diagnosis. A key takeaway is the potential for significant diagnostic delays, which highlights the need for improved clinical awareness. Recognizing achalasia's varying presentation across age groups can lead to more timely and effective management, improving long-term outcomes for patients of all ages.
