Division of Gastroenterology and Hepatology, Department of Medicine, New York University Grossman School of Medicine, New York City, NY, USA.
Division of Gastroenterology, University of Pennsylvania, Philadelphia, PA, USA.
Clin Auton Res. 2023 Apr;33(2):87-92. doi: 10.1007/s10286-023-00925-1. Epub 2023 Feb 3.
Familial dysautonomia (FD) is a rare inherited autosomal recessive disorder with abnormal somatosensory, enteric, and afferent autonomic neurons. We aimed to define the incidence of gastrointestinal bleeding and its associated risk factors in patients with FD.
In this retrospective case-control study, we identified all episodes of gastrointestinal bleeding in patients with FD, occurring over four decades (January 1980-December 2017), using the New York University FD registry.
We identified 104 episodes of gastrointestinal bleeding occurring in 60 patients with FD. The estimated incidence rate of gastrointestinal bleeds in the FD population rate was 4.20 episodes per 1000 person-years. We compared the 60 cases with 94 age-matched controls. Bleeding in the upper gastrointestinal tract from gastric and duodenal ulcers occurred most frequently (64 bleeds, 75.6%). Patients were more likely to have a gastrostomy (G)-tube and a Nissen fundoplication [odds ratio (OR) 3.73, 95% confidence interval (CI) 1.303-13.565] than controls. The mean time from G-tube placement to first gastrointestinal bleed was 7.01 years. The mean time from Nissen fundoplication to bleed was 7.01 years. Cases and controls had similar frequency of intake of nonsteroidal antiinflammatory drugs (NSAID) and selective serotonin reuptake inhibitors (SSRI).
The incidence of gastrointestinal bleeding in the pediatric FD population was estimated to be 4.20 per 1000 person-years, 21 times higher than in the general pediatric population (0.2 per 1000 person-years). Patients with FD with a G-tube and a Nissen fundoplication had a higher risk of a subsequent gastrointestinal bleeding.
家族性自主神经机能异常（FD）是一种罕见的常染色体隐性遗传性疾病，其特征为感觉、肠和传入自主神经元异常。我们旨在确定 FD 患者胃肠道出血的发生率及其相关危险因素。
在这项回顾性病例对照研究中，我们使用纽约大学 FD 登记处，确定了 1980 年 1 月至 2017 年 12 月 40 多年来 FD 患者的所有胃肠道出血发作。
我们确定了 60 例 FD 患者中有 104 例胃肠道出血发作。FD 人群胃肠道出血的估计发生率为每 1000 人年 4.20 例。我们将 60 例病例与 94 例年龄匹配的对照组进行了比较。胃和十二指肠溃疡引起的上消化道出血最为常见（64 例，75.6%）。与对照组相比，患者更有可能接受胃造口术（G）-管和尼森胃底折叠术（比值比 [OR] 3.73，95%置信区间 [CI] 1.303-13.565）。从 G 管放置到首次胃肠道出血的平均时间为 7.01 年。从尼森胃底折叠术到出血的平均时间为 7.01 年。病例和对照组 NSAID 和选择性 5-羟色胺再摄取抑制剂（SSRIs）的摄入频率相似。
儿科 FD 人群胃肠道出血的发生率估计为每 1000 人年 4.20 例，是一般儿科人群（0.2 例/1000 人年）的 21 倍。有 G 管和尼森胃底折叠术的 FD 患者发生随后胃肠道出血的风险更高。
