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Pancreatitis in Familial Dysautonomia Patients
Ariel A Benson1, Adi Cohen2, Guy Peskin2
1Digestive Diseases Institute, Shaare Zedek Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, ari.benson@gmail.com.
Digestive Diseases (Basel, Switzerland)
|June 25, 2026
Summary
Familial Dysautonomia (FD) patients have a significantly higher risk of acute pancreatitis (AP). This increased risk is not linked to common pancreatitis causes and may stem from autonomic nervous system dysfunction in FD.
Area of Science:
- Gastroenterology
- Genetics
- Neurology
Background:
- Familial Dysautonomia (FD) affects autonomic and sensory nervous systems, with frequent gastrointestinal issues.
- The impact of FD on the pancreas and acute pancreatitis (AP) risk is not well understood.
Purpose of the Study:
- To determine the incidence and characteristics of AP in FD patients.
- To identify potential risk factors for AP in this population.
Main Methods:
- Retrospective review of 192 FD patients treated between 1981-2020.
- Data included demographics, FD symptoms, medications, labs, imaging, and medical history.
- Statistical analysis to assess AP prevalence and risk factors.
Main Results:
- The incidence of AP in FD patients was 288.5 per 100,000 person-years, 8.5 times higher than the general population.
- Gastrointestinal (96.8%) and respiratory (88.3%) manifestations were common in FD patients.
- No significant differences in traditional pancreatitis risk factors were found between FD patients with and without AP.
Conclusions:
- FD patients face a substantially elevated risk of acute pancreatitis.
- This heightened risk is not attributable to conventional risk factors for pancreatitis.
- Autonomic nervous system dysfunction, specifically Sphincter of Oddi (SOD) dysfunction, may underlie the increased AP risk in FD.
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