Primary achalasia diagnosed during pregnancy: rare cause of nausea and vomiting.

Nausea and vomiting during pregnancy are very common; however, when persistent symptoms lead to severe malnutrition, other conditions should be considered. We present a patient with severe postprandial nausea and vomiting resulting in 120 lb weight loss. She was treated for presumed hyperemesis gravidarum but diagnosed with achalasia type 1 upon further work-up. The pregnancy was further complicated by fetal growth restriction, shortened cervix and preterm premature rupture of membranes, and resulted in delivery at 26 weeks of gestation. Postpartum, she underwent a peroral endoscopic myotomy procedure and has returned to normal body mass index.The differential for nausea/vomiting is broad, and major medical conditions can manifest for the first time during pregnancy. Severe malnutrition adversely affects maternal and fetal health. Further work-up should be pursued when symptoms cannot otherwise be explained.

Achalasia in pregnancy.

Achalasia is characterised by incomplete relaxation of the lower oesophageal sphincter and aberrant oesophageal peristaltic activity resulting in impaired oesophageal emptying. This rare condition in pregnancy is unique as both the disease and its treatment are associated with fetomaternal risks and complications. A woman in her early 30s, gravida 3 para 2 at 35 weeks' pregnancy with suspected oesophageal achalasia, presented with shortness of breath, cough and fever following frequent bouts of vomiting and fluid regurgitation. She was diagnosed with aspiration pneumonia complicated by severe metabolic acidosis, malnutrition syndrome and fetal growth restriction. Following stabilisation of the acute clinical problems, delivery was expedited via caesarean section. Postpartum endoscopy confirmed the diagnosis of achalasia as per initial suspicion. Definitive surgery was performed several months later after optimisation of the patient's nutritional status. This case illustrates the life-threatening complications of achalasia in pregnancy.

[Achalasia cardiae causing megaesophagus: "From the beginnings to the resolution"]. / Megaoesophagust okozó achalasia cardiae: "a kezdetektol a megoldásig".

Achalasia cardiae miatt az elso oesophago-cardia myotomiát több mint száz évvel ezelott Ernst Heller német sebész végezte. Az achalasiás betegek a mai napig ettol a beavatkozástól várják panaszaik megszunését. Az achalasia napjainkban is chronikus, progresszív betegség, aminek oki kezelését nem ismerjük, a gyógyítására, a panaszok enyhítésére gyógyszeres (calcium csatorna blokkolók stb.), endoscopos (botulinum toxin inj., ballonos tágítás, per oralis endoscopos myotomiát [POEM]) és sebészi (laparoscopos, thoracoscopos myotomia) kezeléseket váltakozó sikerrel alkalmazunk.A betegség progresszivitása miatt a betegek 5%-ánál a nyelésképtelenségig fokozódó dysphagia, megaoesophagus alakul ki, megoldására mutéti beavatkozás válik szükségessé. A muködésképtelen nyelocso eltávolítása és pótlása kiterjedt, nem elhanyagolható morbiditással és mortalitással járó beavatkozás. Közleményünkben egy 45 éves nobeteg kórtörténetét, az általunk alkalmazott mutéti beavatkozást ismertetjük. A beteg a mutét óta panaszmentes.

Fertility and sexual activity in patients with Triple A syndrome.

Objective: Triple A syndrome, caused by autosomal recessively inherited mutations in the AAAS gene is characterized by alacrima, achalasia, adrenal insufficiency, and neurological impairment. To the best of our knowledge, no patients of both sexes have been reported to have offspring. Our aim was to assess the causes of infertility in male patients with this multisystemic syndrome, and to present a female patient that spontaneously conceived a child. Design: Cross-sectional study. Methods: Six males aged 19-48 years were included. Gonadotropins, testosterone, DHEAS, androstenedione, inhibin B, anti-Mullerian hormone measurements and testicular ultrasound were performed. Results: All six male patients had impaired general health and neurological symptoms including erectile and ejaculatory dysfunction. None of them had an offspring. The only demonstrated cause of infertility in our male patients was erectile and ejaculatory dysfunction which precludes sexual intercourse. Our patients had normal libido but were sexually abstinent. Except for low adrenal androgen levels, the concentrations of all measured hormones as well as testicular ultrasound were normal which may indicate the possibility of spermatogenesis in male patients with triple A syndrome. Little is known about fertility in female patients, but based on our observations spontaneous pregnancies seem to be possible. Conclusion: Our results contribute to still scarce knowledge on fertility in patients with Triple A syndrome and as well represents a foundation for further research on causes of infertility and possible treatment options.

Retrograde tubing as a rescue treatment for megaoesophagus: a case report.

Familial dysautonomia (FD) is a genetic disease of the autonomous and sensory nervous systems. Severe gastro-oesophageal reflux is common and one of the major complications. Some patients with FD develop megaoesophagus. Oesophageal malfunction, accompanied by oesophageal food and secretion retention, results in recurrent aspiration and other severe respiratory complications. Through a traditional case report, we wish to show how reverse tubing of the oesophagus can lead to significant symptomatic improvement in these patients. Moreover, this technique can serve as an alternative treatment for other oesophageal motility disorders.

Butterfly Wings Effect on High Resolution Manometry in A Patient with Esophageal Achalasia.

A 57-year-old man presented with dysphagia in solids and liquids deteriorating in the last months and weight loss of 3 kg. A thoracic CT revealed a limit dilatation of the lower esophagus with food residue. An upper endoscopy was performed revealing bubble content and a contraction of the Lower Esophageal Sphincter (LES). A barium esophagogram demonstrated deceleration of esophageal emptying and a bird beak sign indicative of esophageal achalasia (Figure A). High resolution esophageal manometry was performed to evaluate the subtype of achalasia. The catheter could not be intubated into the stomach because of LES spasticity, it folded back cephalad at this level, producing a mirror image, the characteristic "butterfly wings" appearance of a folded manometry catheter (Figure B).

Autonomic Nervous System Dysfunction in Achalasia.

Background/Aims: Achalasia is an esophageal motility disorder characterized by dysphagia and noncardiac chest pain. Impairment of vagal function has been reported in achalasia. This study evaluated autonomic nervous system (ANS) dysfunctions in patients with achalasia to establish a correlation between an ANS dysfunction and the clinical symptoms of achalasia. Methods: Nineteen patients with achalasia (six males/13 females; mean age, 47.1±16.3 years) and 10 healthy controls (four males/six females; 34.8±10.7 years) were enrolled prospectively at Gangnam Severance Hospital between June 2013 and June 2014. All patients completed a questionnaire on ANS dysfunction symptoms and underwent a heart rate variability (HRV) test. Results: ANS dysfunction symptoms were present in 13 patients with achalasia (69%) and three controls (30%). The ANS dysfunction score was significantly higher in patients with achalasia than in the controls (p=0.035). There were no significant differences in the standard deviation of all normal R-R intervals, high frequency (HF), low frequency (LF), and LF/HF ratio in the HRV test. In subgroup analysis comparing female achalasia patients with controls, the cardiac activity was significantly higher in the female achalasia patients than in the controls (p=0.036). The cardiac activity (p=0.004) and endurance to stress (p=0.004) were significantly higher in the achalasia patients with ANS dysfunction symptoms than the achalasia patients without ANS dysfunction symptoms. Conclusions: ANS dysfunction symptoms are common in patients with achalasia. Female achalasia patients and those with ANS dysfunction symptoms showed increased cardiac activity. Hence, more attention should be paid to cardiac overload in achalasia patients who are female or have ANS dysfunction symptoms.

Child Neurology: Allgrove Syndrome: An Intriguing Etiology of Motor Neuron Disease in Children

Motor neuron diseases are a rare group of neurodegenerative disorders with considerable phenotypic heterogeneity and a multitude of etiologies in the pediatric population. In this study, we report 2 unrelated adolescents (a boy and a girl) who presented with 4-6 years of progressive difficulty in walking, thinning of limbs, and gradually progressive darkening of the skin. Examination revealed generalized hyperpigmentation of skin and features suggestive of motor neuron involvement such as tongue atrophy, wasting of distal extremities, and brisk deep tendon reflexes. On detailed exploration for systemic involvement, history of dysphagia, inability to produce tears, and Addisonian crises were evident. An etiologic diagnosis of Allgrove syndrome, which is characterized by a triad of achalasia, alacrimia, and adrenal insufficiency was considered. Next-generation sequencing revealed pathogenic variants in the AAAS gene, confirming the diagnosis. Steroid replacement therapy was initiated along with relevant multidisciplinary referrals. The disease stabilized in the boy and a significant improvement was noted in the girl. These cases highlight the value of non-neurologic cues in navigating the etiologic complexities of motor neuron diseases in children and adolescents. It is imperative for neurologists to develop awareness of the diverse neurologic manifestations associated with Allgrove syndrome because they are often the first to be approached. A multidisciplinary team of experts including neurologists, endocrinologists, gastroenterologists, ophthalmologists, and dermatologists is essential for planning comprehensive care for these patients.

Medical management of painful achalasia: a patient-driven systematic review.

Achalasia is a rare esophageal disorder characterized by abnormal esophageal motility and swallowing difficulties. Pain and/or spasms often persist or recur despite effective relief of the obstruction. A survey by UK charity 'Achalasia Action' highlighted treatments for achalasia pain/spasms as a key research priority. In this patient-requested systematic review, we assessed the existing literature on pharmacological therapies for painful achalasia. A systematic review of the literature using Medline, Embase and Cochrane databases was performed to identify studies evaluating pharmacological therapies for achalasia. Methodological quality of included randomized controlled trials was assessed using the Cochrane Risk of Bias tool. In total, 70% (40/57) of survey respondents reported experiencing pain/spasms. A range of management strategies were reported. Thirteen studies were included in the review. Seven were randomized controlled trials. Most studies were >30 years old, had limited follow-up, and focussed on esophageal manometry as the key endpoint. Generally, studies found improvements in lower esophageal pressures with medications. Only one study evaluated pain/spasm specifically, precluding meta-analysis. Overall risk of bias was high. The achalasia patient survey identified that pain/spasms are common and difficult to treat. This patient-requested review identified a gap in the literature regarding pharmacological treatments for these symptoms. We provide an algorithm for investigating achalasia-related pain/spasms. Calcium channel blockers or nitrates may be helpful when esophageal obstruction and reflux have been excluded. We advocate for registry-based clinical trials to expand the evidence base for these patients.

Defining "true acid reflux" after peroral endoscopic myotomy for achalasia: a prospective cohort study.

BACKGROUND AND AIMS: The symptoms of reflux in achalasia patients undergoing peroral endoscopic myotomy (POEM) are believed to result from gastroesophageal reflux, and the current treatment primarily focuses on acid suppression. Nevertheless, other factors such as nonreflux acidification caused by fermentation or stasis might play a role. This study aimed to identify patients with "true acid reflux" who actually require acid suppression and fundoplication. METHODS: In this prospective large cohort study, the primary objective was to assess the incidence and risk factors for true acid reflux in achalasia patients undergoing POEM. Acid reflux with normal and delayed clearance defined true acid reflux, whereas other patterns were labeled as nonreflux acidification patterns on manual analysis of pH tracings. These findings were corroborated with a symptom questionnaire, esophagogastroscopy, esophageal manometry, and timed barium esophagogram at 3 months after the POEM procedure. RESULTS: Fifty-four achalasia patients aged 18 to 80 years (mean age, 41.1 ± 12.8 years; 59.3% men; 90.7% with type II achalasia) underwent POEM, which resulted in a significant mean Eckardt score improvement (6.7 to 1.6, P < .05). True acid reflux was noted in 29.6% of patients as compared with 64.8% on automated analysis. Acid fermentation was the predominant acidification pattern seen in 42.7% of patients. On multivariable logistic regression analysis, increasing age (odds ratio, 1.12; 95% confidence interval, 1.02-1.27; P = .04) and preprocedural integrated relaxation pressure (IRP; odds ratio, 1.13; 95% confidence interval, 1.04-1.30; P = .02) were significantly associated with true acid reflux in patients after undergoing POEM. CONCLUSIONS: A manual review of pH tracings helps to identify true acid reflux in patients with achalasia after undergoing POEM. Preprocedural IRP can be a predictive factor in determining patients at risk for this outcome. (Clinical trial registration number: NCT04951739.).

Lipoid Pneumonia Caused by Esophageal Achalasia.

A 59-year-old man presented with esophageal achalasia complicated by lipoid pneumonia. Dysphagia and diffuse ground-glass shadows on computed tomography led to the diagnosis of esophageal achalasia. An analysis of bronchoalveolar lavage (BAL) revealed yellow BAL fluid, with two distinct layers. Oil droplets were observed in the upper layer. Macrophages that phagocytosed lipids were also observed. He was diagnosed with lipoid pneumonia secondary to esophageal achalasia. His lipoid pneumonia improved after peroral endoscopic myotomy because of the reduction in aspiration risk.

Risk of Esophageal Cancer in Achalasia: A Matched Cohort Study Using the Nationwide Veterans Affairs Achalasia Cohort.

INTRODUCTION: Achalasia is a postulated risk factor of esophageal cancer (EC); however, EC-associated risk in achalasia is understudied. We aimed to evaluate EC risk among individuals within the nationwide Veterans Affairs Achalasia Cohort. METHODS: We conducted a matched cohort study among US veterans aged 18 years or older from 1999 to 2019. Individuals with achalasia were age matched and sex matched 1:4 to individuals without achalasia. Follow-up continued from study entry until diagnosis with incident/fatal EC (primary outcome), death from non-EC-related causes, or end of the study follow-up (December 31, 2019). Association between achalasia and EC risk was examined using Cox regression models. RESULTS: We included 9,315 individuals in the analytic cohort (median age 55 years; 92% male): 1,863 with achalasia matched to 7,452 without achalasia. During a median 5.5 years of follow-up, 17 EC occurred (3 esophageal adenocarcinoma, 12 squamous cell carcinoma, and 2 unknown type) among individuals with achalasia, compared with 15 EC (11 esophageal adenocarcinoma, 1 squamous cell carcinoma, and 3 unknown type) among those without achalasia. EC incidence for those with achalasia was 1.4 per 1,000 person-years, and the median time from achalasia diagnosis to EC development was 3.0 years (Q1-Q3: 1.3-9.1). Individuals with achalasia had higher cumulative EC incidence at 5, 10, and 15 years of follow-up compared with individuals without achalasia, and EC risk was 5-fold higher (hazard ratio 4.6, 95% confidence interval: 2.3-9.2). DISCUSSION: Based on substantial EC risk, individuals with achalasia may benefit from a high index of suspicion and endoscopic surveillance for EC.

Characteristics of Esophageal Motility and Associated Symptom Profiles in Patients with Esophageal Diverticulum: A Study Based on High-Resolution Impedance Manometry.

BACKGROUND: Esophageal diverticulum (ED) is an uncommon structural disorder with heterogenous manifestations and elusive pathophysiology. Our aim was to investigate esophageal motility and associated symptom profiles in patients with ED based on high-resolution impedance manometry (HRIM). METHODS: Consecutive patients with ED referred to our motility laboratory between 2015 to 2022 were identified in our electronic database. All patients were evaluated based on an upper endoscopy, HRIM, and standardized symptom questionnaires. Patients with ED were further stratified into upper, middle, and lower (epiphrenic) cases. Esophageal motility was evaluated with HRIM and the updated Chicago Classification v4.0. RESULTS: Twenty-four patients with ED (9 upper, 4 middle, and 11 epiphrenic) were analyzed. Patients with ED were generally older (mean: 65 ± 13.3 years) and predominantly women (58.3%). Most ED cases were unilaterally located (95.8%) and left-side predominant (62.5%). Mean symptom duration was 20 months (range: 1-120) and the most common symptoms were dysphagia (70.8%) and regurgitation (37.5%). Erosive esophagitis was noted in 16 patients (69.6%), while barium stasis was noted in 5 patients (20.8%). Fourteen patients (58.3%) were diagnosed with esophageal motility disorders using HRIM, with achalasia being the most common diagnosis (n = 5, 20.8%). Patients with epiphrenic diverticulum had significantly higher symptom scores and achalasia prevalence. CONCLUSION: Patients with ED tended to be older and was associated with a high prevalence of EMD. A multi-disciplinary evaluation, including complete anatomical and motility surveys, may help clarify the underlying pathophysiology and tailor further treatment strategies.

Achalasia is Strongly Associated With Eosinophilic Esophagitis and Other Allergic Disorders.

BACKGROUND & AIMS: Achalasia has been assumed to be an autoimmune disease targeting esophageal myenteric neurons. Recently, we proposed an alternative hypothesis that achalasia sometimes might be allergy-driven, caused by a form of eosinophilic esophagitis (EoE) in which activated eosinophils and/or mast cells infiltrating esophageal muscle release products that disrupt motility and damage myenteric neurons. To seek epidemiologic support for this hypothesis, we identified patients with achalasia in the Utah Population Database, and explored their frequency of having EoE and other allergic disorders. METHODS: We used International Classification of Diseases codes to identify patients with achalasia and allergic disorders including EoE, asthma, atopic dermatitis, contact dermatitis, allergic rhinitis, allergic conjunctivitis, hives/urticaria, and anaphylaxis. We calculated relative risk (RR) for each allergic disorder by comparing the number observed in patients with achalasia with the expected number in individuals matched for birthyear and sex, and we performed subanalyses for patients age ≤40 versus age >40 years. RESULTS: Among 844 patients with achalasia identified (55% female; median age at diagnosis, 58 years), 402 (47.6%) had ≥1 allergic disorder. Fifty-five patients with achalasia (6.5%) had EoE (1.67 EoE cases expected), for a RR of 32.9 (95% confidence interval, 24.8-42.8; P < .001). In 208 patients with achalasia age ≤40 years, the RR for EoE was 69.6 (95% confidence interval, 46.6-100.0; P < .001). RR also was increased significantly for all other allergic disorders evaluated (all greater than 3-fold higher than population rates). CONCLUSIONS: Achalasia is strongly associated with EoE and other allergic disorders. These data support the hypothesis that achalasia sometimes might have an allergic etiology.

Laparoscopic Heller myotomy with Toupet fundoplication: revisiting GERD in treated achalasia.

INTRODUCTION: With the advent of the laparoscopic era in the 1990s, laparoscopic Heller myotomy replaced pneumatic dilation as the first-line treatment for achalasia. An advantage of this approach was the addition of a fundoplication to reduce gastroesophageal reflux disease (GERD). More recently, Peroral Endoscopic Myotomy has competed for first-line therapy, but the postoperative GERD may be a weakness. This study leverages our experience to characterize GERD following LHM with Toupet fundoplication (LHM+T ) so that other treatments can be appropriately compared. METHODS: A single-institution retrospective review of adult patients with achalasia who underwent LHM+T from January 2012 to April 2022 was performed. We obtained routine 6-month postoperative pH studies and patient symptom questionnaires. Differences in questionnaires and reflux symptoms in relation to pH study were explored via Kruskal-Wallis test or chi-square tests. RESULTS: Of 170 patients who underwent LHM+T , 51 (30%) had postoperative pH testing and clinical symptoms evaluation. Eleven (22%) had an abnormal pH study; however, upon manual review, 5 of these (45.5%) demonstrated low-frequency, long-duration reflux events, suggesting poor esophageal clearance of gastric refluxate and 6/11 (54.5%) had typical reflux episodes. Of the cohort, 7 (15.6%) patients reported GERD symptoms. The median [IQR] severity was 1/10 [0, 3] and median [IQR] frequency was 0.5/4 [0, 1]. Patients with abnormal pH reported more GERD symptoms than patients with a normal pH study (3/6, 50% vs 5/39, 12.8%, p = 0.033). Those with a poor esophageal clearance pattern (n = 5) reported no concurrent GERD symptoms. CONCLUSION: The incidence of GERD burden after LHM+T is relatively low; however, the nuances relevant to accurate diagnosis in treated achalasia patients must be considered. Symptom correlation to abnormal pH study is unreliable making objective postoperative testing important. Furthermore, manual review of abnormal pH studies is necessary to distinguish GERD from poor esophageal clearance.