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.

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.

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