Hilbert James E, Barohn Richard J, Clemens Paula R, Luebbe Elizabeth A, Martens William B, McDermott Michael P, Parkhill Amy L, Tawil Rabi, Thornton Charles A, Moxley Richard T
From the Departments of Neurology (J.E.H., E.A.L., W.B.M., M.P.M., R.T., C.A.T., R.T.M.) and Biostatistics and Computational Biology (M.P.M.), University of Rochester Medical Center, NY; Department of Neurology (R.J.B.), University of Kansas Medical Center, Kansas City; Department of Neurology (P.R.C.), University of Pittsburgh and Department of Veterans Affairs Medical Center, PA; and Wegmans School of Pharmacy (A.L.P.), St. John Fisher College, Rochester, NY.
Neurology. 2017 Sep 26;89(13):1348-1354. doi: 10.1212/WNL.0000000000004420. Epub 2017 Aug 30.
To analyze gastrointestinal (GI) manifestations, their progression over time, and medications being used to treat GI symptoms in a large cohort of patients with myotonic dystrophy types 1 (DM1) and 2 (DM2).
We analyzed patient-reported data and medical records in a national registry cohort at baseline and 5 years.
At baseline, the majority of patients reported trouble swallowing in DM1 (55%; n = 499 of 913) and constipation in DM2 (53%; n = 96 of 180). Cholecystectomy occurred in 16.5% of patients with DM1 and 12.8% of patients with DM2, on average before 45 years of age. The use of medications indicated for gastroesophageal reflux disease was reported by 22.5% of DM1 and 18.9% of patients with DM2. Greater risk of a GI manifestation was associated with higher body mass index and longer disease duration in DM1 and female sex in DM2. At the 5-year follow-up, the most common new manifestations were trouble swallowing in patients with DM1 and constipation in patients with DM2.
GI manifestations were common in both DM1 and DM2, with a relatively high frequency of gallbladder removal in DM1 and DM2 occurring at a younger age compared to normative data in the literature. Studies are needed to determine the pathomechanism of how sex, weight gain, and duration of disease contribute to GI manifestations and how these manifestations affect quality of life and clinical care for patients with DM1 and DM2.
分析1型（DM1）和2型（DM2）强直性肌营养不良症患者队列中胃肠道（GI）表现、其随时间的进展情况以及用于治疗GI症状的药物。
我们分析了国家登记队列中患者在基线和5年时报告的数据及病历。
在基线时，大多数DM1患者报告有吞咽困难（55%；913例中的499例），DM2患者报告有便秘（53%；180例中的96例）。平均在45岁之前，16.5%的DM1患者和12.8%的DM2患者进行了胆囊切除术。报告使用治疗胃食管反流病药物的DM1患者占22.5%，DM2患者占18.9%。在DM1中，较高的体重指数和较长的病程与GI表现风险增加相关；在DM2中，女性与GI表现风险增加相关。在5年随访时，最常见的新表现是DM1患者的吞咽困难和DM2患者的便秘。
GI表现在DM1和DM2中均很常见，与文献中的标准数据相比，DM1和DM2中胆囊切除的频率相对较高且发生年龄较小。需要开展研究以确定性别、体重增加和疾病持续时间如何导致GI表现的发病机制，以及这些表现如何影响DM1和DM2患者的生活质量和临床护理。
