August 7, 2025

Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review

RARana AljaberiEmory University LRLindsay RomoBroad Institute RCReuven Zev CohenEmory University

Key Points

MAIN FINDING: Acute pancreatitis emerged as a complication in patients with poorly controlled homocystinuria.
KEY EVIDENCE: Four cases of pancreatitis were detailed alongside 11 instances found in literature, exhibiting varied outcomes.
APPROACH: The examination involved a case series supported by a literature review of additional pancreatitis cases in homocystinuria.
SIGNIFICANCE: This expands the understanding of the clinical spectrum of homocystinuria and emphasizes the necessity for proper management.

Abstract

ABSTRACT Classic homocystinuria (HCU) is caused by a deficiency in cystathionine beta‐synthase, leading to excessive accumulation of homocysteine and methionine in plasma and tissues. Clinical manifestations typically involve the eyes, skeleton, central nervous system, and vasculature. Thromboembolic events, such as stroke and deep vein thrombosis, are well‐recognized complications. Here, we report four patients with poorly controlled HCU who developed acute pancreatitis (AP) with varying outcomes, along with 11 additional cases identified through a literature review. This study highlights AP as a potential complication in poorly controlled HCU, expanding the clinical spectrum of the disease and offering guidance on surveillance and appropriate acute management.

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