Pancreatitis in Familial Dysautonomia Patients

Familial dysautonomia (FD) is characterized by abnormal function of autonomic and sensory nervous systems. Gastrointestinal (GI) symptoms are extremely prevalent in FD patients, but the impact of FD on the pancreas is less well described. We aimed to elucidate the incidence and characteristics of acute pancreatitis (AP) in a population of FD patients and to identify potential risk factors.

A retrospective review was performed on FD patients treated at a single tertiary center between 1981 and 2020. FD patients were included in the study, except those who died before 6 months. Data collected included demographics, FD symptoms, medication use, laboratory results, imaging results, and surgical and hospitalization history. Statistical analysis was performed to determine prevalence of AP in FD patients and FD-related symptoms.

Out of 192 FD patients, 49% were male, and average age at the time of evaluation was 25.3 years (range: 1-59 years). Most patients had GI (n = 179, 96.8%) and respiratory (n = 166, 88.3%) FD manifestations. More than 33% of patients had an FD crisis frequency of more than four times/year. The incidence of AP among this FD population was 288.5 cases per 100,000 person-years, 8.5 times higher than the incidence in the general population. There was no significant difference in the prevalence of pancreatitis risk factors when comparing FD patients who developed AP to FD patients who did not.

There is a significantly increased risk for pancreatitis among FD patients that is not explained by traditional pancreatitis risk factors. This increased risk may be due to sphincter of Oddi dysfunction as part of their autonomic nervous system abnormalities.