Achalasia is a rare but well-defined neurodegenerative disorder. It is characterised by a defective peristalsis of esophageal body and impaired relaxation of lower esophageal sphincter in response to swallow. It can occur at any age without any gender dominance with the prevalence of 1/100,000 population.¹ Achalasia rarely coexists with other disease conditions. Reported coexisting conditions are pancreatic pseudocyst, mesotheliomas of the pleura, para-esophageal hernia, hiatal hernia, esophageal leiomyoma, and several cancers, such as gastric, pancreatic, hepatic, and esophageal.

The coexistence of achalasia with esophageal leiomyoma is extremely rare due to the insidious onset of leiomyoma.² To the best of our knowledge, only a single case of coexistence is reported till date which was managed laparoscopically.² Herein, we share our experience of an incidental diagnosis of esophageal leiomyoma during the endoscopic management of type I achalasia. The patient was successfully treated using endoscopic approach for leiomyoma.

We had three cases of esophageal achalasia coexisting with esophageal leiomyoma. The patients were presented with complaints of dysphagia to solid and liquid. Table 1 summarizes clinical characteristics of the patients. Upper gastrointestinal endoscopy showed fluid, froth, and food residue in the esophageal lumen and tight gastroesophageal junction. Esophageal manometry revealed hypertensive lower esophageal sphincter (LES) and absence of normal peristalsis of esophageal body (Fig. 1). All these findings were suggestive of diagnosis of an achalasia. Hence, peroral endoscopic myotomy (POEM) was scheduled. Patients were intubated and anesthetized. As per the procedure of POEM, esophageal mucosa was lifted away from submucosa by injecting diluted methylene blue dye at 10 to 15 cm proximal to the gastroesophageal junction. An initial longitudinal incision (2–3 cm) was made by triangular tip knife which served as an entry point for the tunnel. The submucosal tunnel was further enlarged by separating mucosa from muscularis using insulated tip knife/hybrid knife. The submucosal tunnel was extended towards the esophagogastric junction; During the dissection, whitish soft tissue lesion was revealed (Fig. 2). This raised the suspicion of presence of leiomyoma. Hence, it was decided to resect the lesion from its surrounding muscular layer using insulated tip knife. Resected tumor was then retrieved out of tunnel using snare through the submucosal entry. The scope was withdrawn from submucosal tunnel. To close the mucosal incision several hemo clips were applied. In view of incidental finding of esophageal leiomyoma, POEM was accompanied with submucosal tunneling endoscopic resection (STER). Histopathological examination (HPE) was suggestive of leiomyoma with immunohistochemistry (IHC) positive for smooth muscle actin, desmin, caldesmon and negative for cluster of differentiation 117. Postoperatively, patients were asymptomatic. On the follow-up of 6, 9, and 12 months, patients were asymptomatic with progressive weight gain.

Table 1 . Clinical Features, Endoscopic Findings, Histopathology, Treatment and Follow-Up of 3 Cases of Esophageal Leiomyoma Coexisted with Achalasia.

Variable	Patient no. 1	Patient no. 2	Patient no. 3
Age (yr)/Sex	40/Male	55/Female	36/Female
Clinical features	Dysphagia	Dysphagia	Dysphagia, vomiting
Manometric findings	IRP: 20 mmHg; type I achalasia	IRP: 21.6 mmHg; type I achalasia	IRP: 31.5 mmHg; type I achalasia
Endoscopic findings	Achalasia Cardia	Achalasia Cardia	Achalasia Cardia
Treatment	POEM + STER	POEM + STER	POEM + STER
Histopathologic findings of leiomyoma
Location	Lower esophagus	Gastroesophageal junction	Gastroesophageal junction
Size (mm)	8	10	6
Histology	Leiomyoma	Leiomyoma	Leiomyoma
Follow-up (3, 6, 12 months)	Asymptomatic	Asymptomatic	Asymptomatic

IRP, integrated relaxation pressure; POEM, peroral endoscopic myotomy; STER, submucosal tunneling endoscopic resection..

Figure 1. Esophageal manometric examination suggestive of classic pattern of type I achalasia.

Figure 2. Diagnosis of Esophageal leiomyoma. (A) Histopathology of leiomyoma. (B) Appearance of exposed tumor in the submucosal tunnel during peroral endoscopic myotomy.

Achalasia is a primary esophageal motility disorder. This condition can be diagnosed by endoscopic and radiological studies, but the main diagnostic modality is manometry. The manometric findings of achalasia are characterized by three features: an increased integrated relaxation pressure of LES, incomplete relaxation of LES, and aperistalsis of esophagus.¹ Literature search revealed that the coexistence of achalasia with esophageal leiomyoma is extremely rare. The exact incidences are not known but only a single case report is reported in the literature.²

Leiomyoma of esophagus is a benign tumor of the smooth muscle layers. The clinical presentation of esophageal leiomyoma can mimic the symptoms of an achalasia cardia when it is large in size (> 5 cm). Interestingly, an esophageal leiomyoma remains asymptomatic when it is small in size.³ When an esophageal leiomyoma coexist with achalasia, the diagnosis becomes challenging. This is because of the absence of leiomyoma specific symptoms or findings, and the clinical, radiological, and endoscopic findings favoring achalasia cardia. In our case series, clinical picture, endoscopic findings, and esophageal manometry confirmed achalasia. Manometric findings revealed classic pattern of type I achalasia. Even an endoscopic examination of esophagus did not reveal any bulge or mass, probably due to small size of leiomyoma. Thus, in our case series the coexistence of esophageal leiomyoma remained undiagnosed till POEM was performed which highlights the challenges that can be encountered in diagnosis when leiomyoma coexist along with achalasia cardia. Literature review showed several studies which reported a misdiagnosis of achalasia cardia instead of an esophageal leiomyoma mediated dysphagia.^4,5 Hence, when there is a suspicious bulge or mass on endoscopic findings, an alternative differential diagnosis should be kept in mind, even though the manometric findings are highly suggestive of achalasia cardia. In such cases, we recommend the supplementation of endoscopic ultrasonography (EUS) to aid in further confirmation of final diagnosis. EUS allows visualization of the five layered structure of esophageal wall which may be an added advantage for characterization of the lesion, estimation of size and layer of origin, thus deciding the plan of further management.³

POEM is a novel and minimal invasive endoscopic surgical treatment, widely used in treatment of an achalasia cardia. Inoue et al⁶ was first to demonstrate safety and efficacy of POEM in human for achalasia in 2008. As an extension of POEM technique, STER was developed by Zhou et al.⁷ It is also safe, effective and feasible for treating submucosal tumors originating from submucosa or muscularis propria. Additionally, it provides direct access to the submucosal layer which enables the ease of resection and specimen retrieval for HPE and IHC study.⁷ POEM and STER are two main techniques that are widely used in third space endoscopy. In the present case series, POEM was planned for treatment of achalasia, but we were fortunate enough to diagnose coexistence of esophageal leiomyoma during POEM. To resect an esophageal leiomyoma, STER was performed with POEM. Thus, the second surgery was avoided.

In conclusion, achalasia cardia is usually idiopathic in origin. Literature search did not show any studies on the relationship between achalasia cardia and leiomyoma. Few case reports showed diffuse leiomyomatosis presented as achalasia cardia. In our case series, leiomyoma was an incidental finding. Further research is warranted to establish a relationship between achalasia and leiomyoma. The coexistence of an achalasia cardia with leiomyoma is a rarely encountered condition and challenging to diagnose pre operatively. POEM and STER remains a valid and effective treatment options.

No potential conflict of interest relevant to this article was reported.