Sliding hiatal hernia is a condition that involves the herniation of the gastroesophageal junction and the proximal stomach in the thorax via the diaphragmatic hiatus. It is considered a major cause of gastroesophageal reflux disease (GERD), due to the decreased lower esophageal sphincter (LES) pressure associated with the intrathoracic position of the LES.^1,2 The estimated prevalence of hiatal hernia in Western patients could reach 50%,³ and up to 90% in patients with erosive reflux-esophagitis.⁴

Achalasia is a rare esophageal motility disorder, occurring in up to 1 per 10 000,⁵ defined by an impaired relaxation of the LES and the absence of normal peristalsis.⁶ In achalasia patients, the gastroesophageal junction is typically intra-abdominal and the presence of a hiatal hernia is extremely rare.^7-9 However, the association of a hiatal hernia and achalasia represents a therapeutic challenge, since all achalasia treatment aim at decreasing the integrated relaxation pressure and the lower esophageal sphincter pressure, with the risk of inducing severe post treatment gastroesophageal reflux in patients with achalasia.

Our aim is to analyze the clinical and manometric characteristics and treatment outcome of patients with achalasia and hiatal hernia. Given the association of hiatal hernias and GERD we were concerned that the presence of hiatal hernias could increase the prevalence of GERD symptoms and/or erosive esophagitis after endoscopic treatment of achalasia.

In this monocentric, retrospective study, we reviewed all esophageal manometries performed at our center between January 1, 2015 and January 31, 2022. We included patients diagnosed with achalasia on high-resolution manometry according to the Chicago classification version 4.0,⁴ and associated hiatal hernia diagnosed upon high-resolution esophageal manometry (Figure) and/or endoscopy. Clinical, endoscopic, radiologic, baseline manometric, and clinical outcome data were extracted from the clinical information system of our hospital. For each patient in this group, sex-, age-, and achalasia subtype-matched controls with achalasia but no hiatal hernia were selected from our prospective high-resolution manometry database.

Figure 1. Representative high-resolution manometry recordings from 2 different patients (panel A and panel B) with type II achalasia hiatal hernia. Note the position of the lower esophageal sphincter above the diaphragmatic impression.

The primary endpoint was the presence of heartburn and/or regurgitations at the clinical follow-up visits. The first visit was 3 to 6 months following the treatment, the second 12 to 18 months following the treatment of achalasia. Latest follow-up data were also recorded. Successfully treated achalasia was defined as an Eckart score ≤ 3 points at the last follow-up visit.

Difference between the groups were assessed using parametric and non-parametric test according to the collected variable. A P-value less than 0.05 was considered statistically significant.

Between January 2015 and January 2022, 1709 manometries were performed in 1517 patients, and 294 (19.4%) patients were diagnosed with achalasia. Hiatal hernia was identified in 13/294 (4.4%) patients with achalasia on manometry in 10/13 patients, esophagogastroduodenoscopy in 6/13. One patient had a hiatal hernia > 12 cm while all other patients’ hiatal hernias measured less than 5 cm.

The control group included 13 patients with achalasia but without hiatal hernia selected for similar age, gender, and type of achalasia. Demographic data of both groups (achalasia with hiatal hernia and achalasia without hiatal hernia) are summarized in Table 1.

Table 1 . Data From the Group of Patients With Achalasia With Hiatal Hernia (n = 13) and Group of Patients With Achalasia Without Hiatal Hernia (n = 13)

Parameter	Achalasia with hiatal hernia (n = 13)	Achalasia without hiatal hernia (n = 13)	P-value
Age	61.1 ± 22.8	61.9 ± 18.1	0.925
Gender (M:F)	7:6	8:5	> 0.999
Eckardt score
Pre-treatment	6.2 ± 1.7	7.9 ± 2.4	0.040
Post-treatment (3-6 mo)	2.1 ± 1.6	2.6 ± 2.8	0.589
Post-treatment (12-18 mo)	1.5 ± 1.7	2.1 ± 2.0	0.506
Presence of heartburn	16.7%	25.0%	0.615
IRP-4s (mmHg)	22.4 ± 14.0	24.6 ±15.4	0.708
Type of achalasia			0.474
Type I	2 (15.4%)	1 (7.7%)
Type II	7 (53.8%)	11 (84.6%)
Type III	4 (30.7%)	1 (7.7%)
Patient treatment			0.338
POEM	6 (46.2%)	7 (53.8%)
PD	5 (38.4%)	6 (46.2%)
Other	2 (15.4%)	0 (0.0%)

IRP-4s, 4-second integrated relaxation pressure; POEM, peroral endoscopic myotomy; PD, pneumatic dilatation.

Data are presented as mean ± SD, n, or n (%).

A P < 0.05 was considered statistically significant.

Baseline Data

At baseline, patients in the study group had lower Eckardt scores compared to patients in the control group (6.2 ± 1.7 vs 7.9 ± 2.4; P = 0.005) but similar integrated relaxation pressure (22.4 ± 14.0 mmHg vs 24.6 ± 15.4 mmHg; P = 0.708). Heartburn was reported by 16.7% of patients in the study group and by 25.0% of patients in the control groups (P = 0.615). In the study group, 7 patients had a type II achalasia, 2 patients had a type I achalasia and 4 patients had a type III achalasia. Among patients with achalasia and hiatal hernia, 1 patient had a histologically proven Barrett esophagus. In the control group, all patients had normal appearing esophageal mucosa.

Treatments

Among patients with achalasia and hiatal hernia 6/13 (46.2%) were treated by peroral endoscopic myotomy (POEM), 5/13 (38.5%) underwent pneumatic dilatation (PD) and 2/13 (15.3%) were treated with Botox injection in the lower esophageal sphincter. In the control group, 7/13 (53.8%) patients underwent POEM and 6/13 (46.2%) patients were treated by PD. Treatment outcome is presented in Table 2.

Table 2 . Outcome From the Group of Patients With Achalasia With Hiatal Hernia (n = 13) and Group of Patients With Achalasia Without Hiatal Hernia (n = 13)

Parameter	Achalasia with hiatal hernia (n = 13)	Achalasia without hiatal hernia (n = 13)	P-value
Duration of follow-up (mo)	26.6 ± 20.4	18.5 ± 12.5	0.230
Re-interventions	4 (30.7%)	2 (15.4%)	0.352
Eckardt score
Post-treatment (3-6 mo)	2.1 ± 1.6	2.6 ± 2.7	0.589
Post-treatment (12-18 mo)	1.5 ± 1.7	2.1 ± 2.0	0.506
Last follow-up visit	2.9 ± 2.5	2.3 ± 2.3	0.567
Clinical success
Post-treatment (3-6 mo)	8 (61.5%)	9 (69.2%)	0.851
Post-treatment (12-18 mo)	7 (53.8%)	7 (53.8%)	0.600
Last follow-up visit	8 (61.5%)	11 (84.6%)	0.190
Heartburn
Post-treatment (3-6 mo)	3 (23.1%)	2 (15.4%)	> 0.999
Post-treatment (12-18 mo)	5 (38.4%)	2 (15.4%)	0.092
Last follow-up visit	6 (46.1%)	5 (38.4%)	0.691
Regurgitations
Last follow-up visit	4 (30.7%)	4 (30.7%)	0.891

Data are presented as mean ± SD or n (%).

Follow-up data

The mean duration of the follow-up period was 27 ± 20 months and 19 ± 135 months in the hiatal hernia and control group, respectively.

Initial clinical success was obtained in 8/13 (61.5%) patients vs 9/13 (69.2%) patients in the hiatal hernia and control group, respectively (P = 0.589). Heartburn was reported in 3/13 (23.1%) vs 2/13 (15.3%) in each group, respectively (P ≥ 0.999). PPI usage was recorded in 1/13 (7.7%) vs 0/13 (0.0%) patients (P = 0.308).

Long term clinical success was obtained in 7/13 (53.8%) vs 7/13 (53.8%), P = 0.600, while heartburn was present in 5/13 (38.5%) vs 2/13 (15.3%), P = 0.092, in the hiatal hernia vs control group, respectively. Proton pump inhibitor (PPI) usage was 5/13 (38.5%) vs 2/13 (15.3%), (P = 0.376).

At the last follow-up visit, clinical success was recorded in 8/13 (61.5%) vs 11/13 (84.6%), P = 0.190 in the hiatal hernia and control group, respectively, while, heartburn was recorded in 6/13 (46.2%) vs 5/13 (38.5%), P = 0.691, and regurgitation in 4/12 (30.8%) vs 4/13 (30.8%), (P = 0.891). PPI usage was 6/13 (46.1%) vs 4/13 (30.7%) (P = 0.420). At the final follow-up visit, patients in the achalasia and hiatal hernia group had an Eckart score of 2.9 ± 2.5 while patients in the control group had an Eckardt score of 2.3 ± 2.3 (P = 0.567).

One patient from the achalasia and hiatal hernia group complaining of heartburn had a very large (12 cm) hiatal hernia and was treated with POEM. The patient reported major regurgitations and heartburn, and follow-up esophagogastroduodenoscopy found a Los Angeles grade B peptic esophagitis. Subsequently, the patient underwent a Heller myotomy with partial posterior (Toupet) fundoplication.

We observed a 4% prevalence of hiatal hernia among patients with achalasia and did not record any specific clinical or manometric presentation, or treatment outcome pattern following various endoscopic treatment modalities in patients with achalasia and hiatal hernia. The presence of hiatal hernia neither did influence the outcome of endoscopic treatment nor did the presence of hiatal hernia affect the occurrence of erosive esophagitis after POEM. This suggests that the existence of a concomitant hiatal hernia should not impact patient management.

Depending on the diagnostic modality used, hiatal hernia can be associated to achalasia in 4% to 20% of the patients.^7-13 Our data concur with all published studies, suggesting the absence of specific treatment outcome in patients with achalasia and hiatal hernia.^7,9,12 In 1993, Ott et al⁷ studied 120 patients with achalasia, and recorded a prevalence of hiatal hernia (diagnosed on barium swallow) of 8.3% in patients with achalasia. In addition, the authors found no differences regarding age, gender, symptoms, or outcomes for PD between patients with and without hiatal hernia. Khan et al,⁸ in a study involving 110 patients with achalasia, diagnosed a hiatal hernia (based on endoscopy) in 4.4% of the patients, with favorable treatment outcome after PD. More recently, Ushimaru et al,⁹ in a series of 58 consecutive achalasia patients treated by laparoscopic Heller myotomy, observed during surgery a hiatal hernia in 21% of the patients, also with no impact on treatment outcome. Of note, the diagnosis of hiatal hernia was not made preoperatively, but on sole laparoscopy findings, and the authors performed a cruroplasty in half of the 12 patients with achalasia patients with hiatal hernia, making the conclusions hardly comparable with our data.⁸

Conceptually, the association of achalasia and hiatal hernia is rare since patients with achalasia typically have a long esophagus extending well below the diaphragm. The mechanism of the association between the 2 conditions in unknown. It could involve the occurrence of idiopathic achalasia in a patient with prior hiatal hernia (as in the case of our patient with achalasia and Barrett’s esophagus), or a manometric achalasia pattern associating absent peristalsis and an impaired LES relaxation due to mechanical constraints in the proximal stomach and esophagogastric junction trapped above the hiatus. In any case, endoscopic therapies aiming at lowering the LES pressure could result in severe gastroesophageal reflux disease. Our data, including the largest series of patients with achalasia and hiatal hernia, do not suggest that gastroesophageal reflux symptoms, PPI usage, peptic esophagitis were more frequent in these patients. In addition, our study is the first to include patients with modern achalasia management, from high-resolution manometry for the diagnosis of esophageal motility disorders and hiatal hernia^6,14 to POEM for the treatment.¹⁵

Our present study has some limitations, among which the small patient number and the retrospective study design. Nevertheless, this rare association makes large scale prospective studies unrealistic. Follow-up of patients were performed according to clinical criteria and included esophageal symptoms (heartburn, regurgitation, dysphagia, chest pain) and weight. Endoscopies and manometries were performed only when indicated by the presence of symptoms. Endoscopic records available for the current study only mentioned the size of hiatal hernias but did not classify them according to the Hill classification system.

In conclusion, hiatal hernia associated with achalasia occurred in 4% of cases. The finding of a hiatal hernia associated with achalasia should not affect the choice of the treatment, since therapeutic outcomes and gastroesophageal reflux symptoms are similar to patients without hiatal hernia.

None.

None.

Georgiana Tutuian and Maximilien Barret contributed at designing the study, collecting, analyzing, and interpreting data, and drafting the manuscript; Chloé Leandri, Radu Tutuian, and Sophie Scialom contributed to designing the study, analyzing and interpreting data, and drafting the manuscript; and Mahaut Leconte, Anthony Dohan, Romain Coriat, and Stanislas Chaussade contributed to interpreting data and drafting the manuscript.