Division of Gastroenterology, Department of Internal Medicine, Graduate School of Medicine, Kobe University, Kobe, Japan.
Division of Gastroenterology, Niigata University Medical and Dental Hospital, Niigata, Japan.
J Gastroenterol Hepatol. 2021 Oct;36(10):2828-2833. doi: 10.1111/jgh.15557. Epub 2021 Jun 13.
Achalasia is a rare disease, with an incidence of one in 100 000. Genetic factors and autoimmune involvement have been reported in its etiology, and their involvement is strongly suspected, especially in patients with familial achalasia and those with comorbid hereditary or autoimmune diseases. However, these special types of achalasia are rare, and their frequency and clinical characteristics remain unclear.
This retrospective, multicenter cohort study included Japanese patients with a diagnosis of achalasia, treated between 2010 and 2019 across six tertiary centers in Japan. The frequency and clinical characteristics of special types of achalasia, namely, familial achalasia, achalasia with a comorbid hereditary disease, and achalasia with a comorbid autoimmune disease, were retrospectively investigated using a large-scale multicenter database.
During the study period, 1115 patients were treated for achalasia at six tertiary centers. Familial achalasia, achalasia with a comorbid hereditary disease, and achalasia with a comorbid autoimmune disease occurred in 7 (0.63%), 11 (0.99%), and 27 (2.4%) patients, respectively. Familial achalasia had a slightly younger age of onset (37.6 ± 12.1 years old) and a higher incidence in male patients (six patients; 85.7%). Down's syndrome was the most common hereditary comorbidity, and thyroid disease was the most common autoimmune comorbidity.
We clarified the frequency and clinical characteristics of special types of achalasia. Although special types of achalasia are rare, these comorbidities should be considered when treating patients with achalasia.
贲门失弛缓症是一种罕见疾病，发病率为每 10 万人中有 1 例。其病因学中报道了遗传因素和自身免疫参与，并且强烈怀疑其涉及遗传因素和自身免疫参与，尤其是在家族性贲门失弛缓症患者和伴有遗传性或自身免疫性疾病的患者中。然而，这些特殊类型的贲门失弛缓症较为罕见，其频率和临床特征尚不清楚。
本回顾性多中心队列研究纳入了在日本六家三级中心接受贲门失弛缓症治疗的日本患者，这些患者的诊断时间为 2010 年至 2019 年。使用大型多中心数据库回顾性调查特殊类型贲门失弛缓症（即家族性贲门失弛缓症、伴发遗传性疾病的贲门失弛缓症和伴发自身免疫性疾病的贲门失弛缓症）的频率和临床特征。
在研究期间，六家三级中心共治疗了 1115 例贲门失弛缓症患者。家族性贲门失弛缓症、伴发遗传性疾病的贲门失弛缓症和伴发自身免疫性疾病的贲门失弛缓症分别发生在 7（0.63%）、11（0.99%）和 27（2.4%）例患者中。家族性贲门失弛缓症的发病年龄稍轻（37.6±12.1 岁），男性患者发病率较高（6 例；85.7%）。唐氏综合征是最常见的遗传性合并症，甲状腺疾病是最常见的自身免疫性合并症。
我们明确了特殊类型贲门失弛缓症的频率和临床特征。尽管特殊类型贲门失弛缓症较为罕见，但在治疗贲门失弛缓症患者时应考虑这些合并症。
