Subedi Deepak, Parajuli Binod Raj, Bista Neha, Rauniyar Somee, Dhonju Kiran, Bhusal Santosh, Aryal Egesh, Adhikari Divas, Aryal Saurav, Karna Ayush
Nepalese Army Institute of Health Sciences College of Medicine Kathmandu Nepal.
Kathmandu University School of Medical Sciences Dhulikhel Nepal.
Clin Case Rep. 2024 Aug 5;12(8):e9239. doi: 10.1002/ccr3.9239. eCollection 2024 Aug.
This case emphasizes the need for early recognition and accurate diagnosis of achalasia in young adults to avoid exacerbation of the condition and misdiagnosis as GERD. Patient outcomes and quality of life are greatly enhanced by suitable diagnostic techniques, appropriate therapy, interdisciplinary care, and comprehensive patient education along with frequent follow-ups.
Achalasia results from the degeneration of inhibitory ganglion cells within the esophageal myenteric plexus and the lower esophageal sphincter (LES), leading to a loss of inhibitory neurons and resulting in the absence of peristalsis with failure of LES relaxation. Its origins are multifactorial, potentially involving infections, autoimmune responses, and genetics, with equal incidence in males and females. The hallmark symptoms include progressive dysphagia for solids and liquids, along with regurgitation, heartburn, and non-cardiac chest pain. A 22-year-old female patient initially diagnosed with gastroesophageal reflux disease (GERD) received proton pump inhibitors and antacid gel for persistent dysphagia and regurgitation. Subsequent tests including barium esophagogram and manometry indicated Type II Achalasia Cardia. The patient showed clinical improvement with relief of dysphagia, regurgitation, and heartburn symptoms after pneumatic balloon dilatation (PBD). She was advised to follow up after 6 months with upper gastrointestinal (UGI) endoscopy and manometry in the outpatient clinic for regular endoscopic surveillance as there is a risk of transformation to esophageal carcinoma. Diagnosing achalasia in young adults poses challenges due to its diverse presentation and resemblance to other esophageal disorders like GERD. Diagnosis relies on clinical symptoms and imaging studies such as barium esophagogram revealing a bird's beak appearance and esophageal manometry showing absent peristalsis. UGI endoscopy is needed to rule out malignancy. Treatment options include non-surgical approaches like medication and Botox injections, as well as surgical methods such as pneumatic balloon dilation, laparoscopic Heller myotomy, and per-oral endoscopic myotomy (POEM). The treatment options depend upon the patient's condition at presentation and their individual choices. This case report emphasizes that it is crucial to consider achalasia as a potential differential diagnosis in young adults with dysphagia, especially if conventional treatments for acid peptic disorder do not alleviate symptoms. Prompt diagnosis and appropriate management can lead to significant clinical improvement and better patient outcomes.
该病例强调了对年轻成人贲门失弛缓症进行早期识别和准确诊断的必要性，以避免病情加重和误诊为胃食管反流病（GERD）。合适的诊断技术、恰当的治疗、多学科护理以及全面的患者教育并辅以频繁的随访，可显著改善患者预后和生活质量。
贲门失弛缓症是由食管肌间神经丛和食管下括约肌（LES）内的抑制性神经节细胞变性引起的，导致抑制性神经元丧失，进而出现蠕动消失和LES松弛障碍。其病因是多因素的，可能涉及感染、自身免疫反应和遗传因素，男女发病率相等。标志性症状包括进行性吞咽固体和液体困难，以及反流、烧心和非心源性胸痛。一名22岁女性患者最初被诊断为胃食管反流病（GERD），因持续性吞咽困难和反流接受了质子泵抑制剂和抗酸凝胶治疗。随后的检查，包括食管钡餐造影和测压，显示为Ⅱ型贲门失弛缓症。患者在接受气囊扩张术（PBD）后，吞咽困难、反流和烧心症状缓解，临床症状有所改善。由于存在转化为食管癌的风险，建议患者在6个月后到门诊进行上消化道（UGI）内镜检查和测压，以便进行定期内镜监测。由于贲门失弛缓症表现多样且与GERD等其他食管疾病相似，因此在年轻成人中诊断贲门失弛缓症具有挑战性。诊断依赖于临床症状和影像学检查，如食管钡餐造影显示鸟嘴样外观，食管测压显示无蠕动。需要进行UGI内镜检查以排除恶性肿瘤。治疗选择包括药物和肉毒杆菌注射等非手术方法，以及气囊扩张术、腹腔镜Heller肌切开术和经口内镜肌切开术（POEM）等手术方法。治疗方案取决于患者就诊时的病情及其个人选择。本病例报告强调，对于有吞咽困难的年轻成人，尤其是如果针对酸相关性疾病的传统治疗不能缓解症状时，将贲门失弛缓症作为潜在的鉴别诊断至关重要。及时诊断和恰当管理可带来显著的临床改善和更好的患者预后。
