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Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review
Rana Aljaberi1, Lindsay Romo2, Reuven Zev Cohen3
1Department of Human Genetics, Emory University, School of Medicine, Atlanta, Georgia, USA.
Insights
Classic homocystinuria (HCU), a metabolic disorder, can lead to acute pancreatitis (AP) in patients with poor disease control. This study identifies AP as a significant complication, offering insights into HCU management.
Area of Science:
- Metabolic Disorders
- Gastroenterology
- Genetics
Background:
- Classic homocystinuria (HCU) results from cystathionine beta-synthase deficiency, causing elevated homocysteine and methionine.
- Known complications include ocular, skeletal, neurological, and vascular issues, notably thromboembolic events.
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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