# A Rare Case of Hereditary Pancreatitis Unveiling Systemic Lupus Erythematosus in a Young Female Patient

## TL;DR

A young woman with hereditary pancreatitis was later diagnosed with systemic lupus erythematosus, highlighting the challenge of diagnosing overlapping genetic and autoimmune conditions.

## Contribution

This case report adds to the understanding of atypical SLE presentations with pancreatitis as an initial symptom.

## Key findings

- Hereditary pancreatitis was diagnosed via a heterozygous SPINK1 gene mutation in a 19-year-old female.
- Systemic lupus erythematosus was identified through multiple clinical and immunological findings.
- The case underscores the need for comprehensive evaluation in young patients with unexplained abdominal symptoms.

## Abstract

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with varied clinical presentations, sometimes occurring in atypical presentations that cause a delay in diagnosis. Pancreatitis, though uncommon, may be an initial presentation of SLE and needs to be carefully evaluated to rule out other causes. We present the case of a 19-year-old woman who presented with vomiting and abdominal pain and was later diagnosed with hereditary pancreatitis following the detection of a heterozygous SPINK1 gene mutation. Additional evaluation showed systemic manifestations such as non-scarring alopecia, painful oral ulcers, pancytopenia, lupus hepatitis, and a highly positive autoimmune profile, in keeping with a new diagnosis of SLE. This case highlights the diagnostic challenge at the interface of genetic and autoimmune pancreatitis and reinforces the need for a thorough clinical, immunologic, and genetic evaluation in young patients with unexplained abdominal complaints.