Kuipers Thijs, Mussies Carlijn, Lei Aaltje, Masclee Gwen M C, Benninga Marc A, Fockens Paul, Bastiaansen Barbara A J, Bredenoord Albert J, van Wijk Michiel P
Department of Gastroenterology and Hepatology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.
Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, Netherlands.
Orphanet J Rare Dis. 2025 Jan 25;20(1):39. doi: 10.1186/s13023-025-03565-y.
Achalasia is a rare esophageal motility disorder with an estimated annual incidence of 1-5/100.000 and a mean age at diagnosis > 50 years of age. Only a fraction of the patients has an onset during childhood (estimated incidence of 0.1-0.18/ 100.000 children per year). No curative treatment is currently available. Peroral Endoscopic Myotomy (POEM) is a widely accepted treatment option to improve symptoms in adults. Studies evaluating safety and efficacy of POEM in children are scarce and no data exist regarding the quality of life in patients after POEM.
We evaluated the effectiveness and safety of POEM in a cohort of children that was treated for achalasia and we prospectively evaluated their quality of life. We compared the results to a previous cohort evaluating Pneumatic Dilation (PD) and Laparoscopic Heller's Myotomy (LHM) in children with achalasia.
Thirty-three achalasia patients (age at time of POEM 14.1(± 2.5) years, 54.5% female) were included. Twenty-nine (87.8%) percent had received previous treatment (PD (n = 20); LHM (n = 1); PD + LHM (n = 7); PD + Botox (n = 1). POEM was technically successful in all patients and no major complications occurred. Mean follow-up duration was 33 (± 25) months. Twenty three (70%) patients did not need retreatment after POEM during the follow up period. Quality of life after POEM did not differ from the population norms. Patients with an Eckardt score > 3 had a significantly worse general (Kidscreen-52: physical score 44.7 vs. 52.4; p = 0.011; mental score: 42.5 vs. 51.3; p = 0.038) and disease specific (35 vs. 16; p = 0.017) quality of life compared to those with an Eckardt ≤ 3. The SF-36 mental health component score was significantly lower (44.2 vs. 53.1; p = 0.036) in patients treated with POEM compared to those treated with PD and LHM. These lower scores could be related to a selection bias, as more severe patients received POEM, and other influences such as the Corona pandemic. However, the overall, quality of life after POEM was not significantly different to PD and LHM.
POEM is an effective and safe treatment for achalasia in children. Quality of life after POEM is comparable to the results obtained after PD and Heller.
贲门失弛缓症是一种罕见的食管动力障碍性疾病，估计年发病率为1-5/100000，诊断时的平均年龄>50岁。只有一小部分患者在儿童期发病（估计年发病率为0.1-0.18/100000儿童）。目前尚无治愈性治疗方法。经口内镜下肌切开术（POEM）是一种广泛接受的改善成人症状的治疗选择。评估POEM在儿童中的安全性和有效性的研究很少，且尚无关于POEM术后患者生活质量的数据。
我们评估了POEM在一组接受贲门失弛缓症治疗的儿童中的有效性和安全性，并前瞻性地评估了他们的生活质量。我们将结果与之前评估贲门失弛缓症儿童气囊扩张术（PD）和腹腔镜Heller肌切开术（LHM）的队列进行了比较。
纳入33例贲门失弛缓症患者（POEM时年龄14.1（±2.5）岁，54.5%为女性）。29例（87.8%）曾接受过治疗（PD（n=20）；LHM（n=1）；PD+LHM（n=7）；PD+肉毒素（n=1））。POEM在所有患者中技术上均成功，未发生重大并发症。平均随访时间为33（±25）个月。23例（70%）患者在随访期间POEM术后无需再次治疗。POEM术后的生活质量与人群规范无差异。与Eckardt评分≤3的患者相比，Eckardt评分>3的患者总体（儿童生活质量量表-52：身体评分44.7对52.4；p=0.011；心理评分：42.5对51.3；p=0.038）和疾病特异性（35对16；p=0.017）生活质量明显更差。与接受PD和LHM治疗的患者相比，接受POEM治疗的患者的SF-36心理健康分量表评分明显更低（44.2对53.1；p=0.036）。这些较低的评分可能与选择偏倚有关，因为病情更严重的患者接受了POEM治疗，以及其他影响因素，如新冠疫情。然而，POEM术后的总体生活质量与PD和LHM相比无显著差异。
POEM是治疗儿童贲门失弛缓症的一种有效且安全的方法。POEM术后的生活质量与PD和Heller术后的结果相当。
