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Gastrointestinal bleeding in children with familial dysautonomia: a case–control study

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Abstract

Objective

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.

Methods

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.

Results

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).

Conclusion

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.

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Funding

NIH, T32-DK007740, Chethan Ramprasad, NIH, K23 DK119544, Lea Ann Chen

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Author notes

  1. Lea Ann Chen and Horacio Kaufmann contributed equally to this manuscript.

Authors and Affiliations

  1. Division of Gastroenterology and Hepatology, Department of Medicine, New York University Grossman School of Medicine, New York City, NY, USA

    Chethan Ramprasad & Lea Ann Chen

  2. Division of Gastroenterology, University of Pennsylvania, Philadelphia, PA, USA

    Chethan Ramprasad

  3. Department of Neurology, Dysautonomia Center, New York University Grossman School of Medicine, 530 First Av, Suite 9Q, New York City, NY, 10016, USA

    Jose-Alberto Palma, Lucy Norcliffe-Kaufmann & Horacio Kaufmann

  4. Division of Pediatric Gastroenterology, New York University Grossman School of Medicine, New York City, NY, USA

    Joseph Levy

  5. Division of Gastroenterology and Hepatology, Rutgers University, Robert Wood Johnson School of Medicine, New Brunswick, NJ, USA

    Lea Ann Chen

Authors
  1. Chethan Ramprasad
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  2. Jose-Alberto Palma
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  3. Lucy Norcliffe-Kaufmann
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  4. Joseph Levy
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  6. Horacio Kaufmann
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Corresponding author

Correspondence to Horacio Kaufmann.

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On behalf of all authors, the corresponding author states that there is no conflict of interest. Familial Dysautonomia Foundation.

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Ramprasad, C., Palma, JA., Norcliffe-Kaufmann, L. et al. Gastrointestinal bleeding in children with familial dysautonomia: a case–control study. Clin Auton Res 33, 87–92 (2023). https://doi.org/10.1007/s10286-023-00925-1

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  • DOI: https://doi.org/10.1007/s10286-023-00925-1

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