Doctors sometimes mistake cancer for a common throat condition called achalasia, where the throat muscles don’t relax properly. This case study describes a 62-year-old man who had trouble swallowing for two years, and doctors initially thought he had achalasia. However, after many tests and treatments didn’t work, surgery revealed he actually had cancer at the junction where his esophagus meets his stomach. This story teaches doctors to look more carefully for cancer when patients don’t improve with typical achalasia treatments, even when initial tests seem normal.

The Quick Take

  • What they studied: Why a patient with swallowing problems was misdiagnosed with a muscle condition when he actually had cancer
  • Who participated: One 62-year-old man who smoked for many years and had acid reflux, presenting with difficulty swallowing that got worse over 2 years
  • Key finding: Cancer at the esophagus-stomach junction can look exactly like achalasia on many tests, but surgery finally revealed the true diagnosis after other treatments failed
  • What it means for you: If you have persistent swallowing problems that don’t improve with standard treatments, doctors should consider cancer as a possibility and may need to do surgery to get a definitive answer, even if imaging tests initially look normal

The Research Details

This is a case report, which means doctors documented the medical history and treatment of one specific patient. The 62-year-old man came to the hospital with a 2-year history of difficulty swallowing that suddenly got worse. Doctors performed multiple diagnostic tests including endoscopy (a camera down the throat), special pressure measurements of the esophagus, CT scans, MRI scans, and ultrasound imaging. When initial tests suggested achalasia (a condition where throat muscles don’t relax), the patient received treatments for that condition, including a procedure to stretch the esophagus and a stent placement. However, his symptoms kept coming back quickly, which was unusual.

After these treatments failed, doctors decided to perform surgery. During surgery, they discovered the real problem: adenocarcinoma (a type of cancer) at the esophagogastric junction, which is where the esophagus connects to the stomach. This finding was surprising because many of the imaging tests hadn’t clearly shown cancer before the surgery.

Case reports like this are valuable because they describe unusual or instructive medical situations that can teach other doctors about diagnostic challenges and help them recognize similar patterns in their own patients.

This case matters because it highlights a diagnostic trap that doctors can fall into. When a patient has symptoms that look like a common condition (achalasia), doctors naturally start treating for that condition. However, this case shows that cancer can disguise itself as achalasia, and doctors need to stay alert for this possibility, especially when treatments aren’t working as expected. Understanding this helps doctors make better decisions about when to pursue more aggressive diagnostic methods like surgery.

As a case report of a single patient, this study has limited generalizability—meaning we can’t assume all patients with similar symptoms have the same problem. However, case reports are valuable for identifying unusual presentations and teaching moments. The strength of this case is that it documents thorough diagnostic workup with multiple testing modalities, showing that even extensive testing can miss cancer initially. The weakness is that it’s based on one patient, so we can’t determine how often this misdiagnosis occurs or predict who is at highest risk.

What the Results Show

The patient presented with progressive difficulty swallowing over 2 years, with rapid worsening in the 2 months before hospitalization. Initial tests suggested achalasia: endoscopy showed difficulty passing through the esophagus-stomach junction, and pressure measurements indicated obstruction at that location. Imaging studies (CT and MRI) showed mild thickening of the esophageal muscle but no obvious signs of cancer. An ultrasound-guided biopsy also appeared normal.

The patient underwent three different treatments for achalasia: a procedure to stretch the esophagus (pneumatic dilation), placement of a stent (a small tube to keep the passage open), and a minimally invasive procedure to cut the muscle (peroral endoscopic myotomy). However, his symptoms returned quickly after each treatment, which is atypical for achalasia patients.

When these treatments failed, surgical exploration was performed. This revealed the true diagnosis: adenocarcinoma (cancer) at the esophagogastric junction. This cancer was causing the swallowing difficulty by narrowing the passage, mimicking the symptoms of achalasia.

The patient had a history of long-term tobacco use and gastroesophageal reflux disease (chronic acid reflux), both of which are risk factors for esophageal cancer. Imaging also noted a small nodule in the upper lobe of the left lung that was suspected to be tuberculosis, though this was not the primary focus of treatment. Notably, the patient did not experience significant weight loss, which is often seen in cancer patients but was absent in this case.

Previous research indicates that pseudoachalasia (false achalasia caused by other conditions like cancer) accounts for approximately 4% of cases that appear to be achalasia. This case adds to the medical literature by demonstrating that cancer can evade detection even with comprehensive diagnostic testing including endoscopy, imaging, and biopsy. The case emphasizes that when standard treatments for achalasia fail, doctors should maintain a high suspicion for pseudoachalasia and consider surgical exploration, even when imaging and biopsy results appear normal.

This is a single case report, so we cannot determine how common this presentation is or identify specific risk factors that predict who will experience this misdiagnosis. The case does not provide information about the patient’s long-term outcomes after cancer diagnosis and treatment. Additionally, because this is one patient’s experience, the findings cannot be generalized to all patients with swallowing difficulties. The case also doesn’t explain why the biopsy results were normal despite the presence of cancer, which limits our understanding of the diagnostic challenges involved.

The Bottom Line

For patients with achalasia-like symptoms: (1) If symptoms don’t improve with standard achalasia treatments, ask your doctor about the possibility of pseudoachalasia and whether further investigation is needed. (2) If you have risk factors for esophageal cancer (smoking, chronic acid reflux, older age), make sure your doctor considers cancer in the differential diagnosis. (3) Surgical exploration may be warranted if non-invasive tests are inconclusive but symptoms persist. Confidence level: Moderate—based on clinical experience and this instructive case, though more research is needed.

This case is most relevant to: (1) Patients with persistent swallowing difficulties that don’t respond to standard achalasia treatments; (2) Patients with risk factors for esophageal cancer (tobacco use, chronic acid reflux); (3) Healthcare providers managing patients with suspected achalasia who aren’t responding as expected to treatment. Patients without swallowing difficulties or those whose symptoms improve with standard treatment are at lower risk for this scenario.

In this case, the diagnostic journey took approximately 2 years from symptom onset to definitive diagnosis. However, the rapid recurrence of symptoms after each treatment (within weeks) should have prompted earlier surgical evaluation. Ideally, if standard treatments fail within 2-3 months, further investigation including possible surgery should be considered rather than waiting years.

Want to Apply This Research?

  • If you have swallowing difficulties, track: (1) Frequency of difficulty swallowing (daily, weekly); (2) Types of foods that trigger symptoms (solids vs. liquids); (3) Response to treatments (improvement or recurrence within days/weeks); (4) Associated symptoms like chest pain, weight loss, or regurgitation. Log these weekly to share with your healthcare provider.
  • Users should: (1) Document all treatments received and their outcomes; (2) Set reminders to report treatment failures to their doctor promptly rather than waiting; (3) Track risk factors (smoking status, acid reflux frequency) to discuss with healthcare providers; (4) Note any new or worsening symptoms that might suggest a different diagnosis.
  • Establish a long-term tracking system that monitors: (1) Symptom severity on a 1-10 scale; (2) Treatment response timeline; (3) Any red flags (rapid symptom recurrence, weight loss, chest pain); (4) Healthcare visits and test results. Share this data with your doctor at each visit to help identify patterns that might suggest pseudoachalasia rather than true achalasia.

This case report describes one patient’s experience and should not be used for self-diagnosis. Swallowing difficulties have many possible causes, and only a qualified healthcare provider can properly evaluate your symptoms through physical examination and appropriate testing. If you experience persistent difficulty swallowing, chest pain, or unintentional weight loss, consult your doctor promptly. This information is educational and does not replace professional medical advice, diagnosis, or treatment. Always discuss any concerns about your health with your healthcare provider before making decisions about your care.