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Multifactorial Chylomicronemia Syndrome With a Rare APOA5 Variant and Recurrent Acute Pancreatitis: A Case Report
Carlos J Clavijo Rios1, Juan S Bolivar Egurrola1, Julian M Moreno Leon2
1School of Medicine, Universidad del Rosario, Bogota, COL.
Severe hypertriglyceridemia, a condition with very high triglyceride levels, can be linked to APOA5 gene variants. A case study shows a PCSK9 inhibitor effectively lowered triglycerides in a patient with an APOA5 variant of uncertain significance.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Medicine
- Metabolic Disorders
Background:
- Severe hypertriglyceridemia (triglycerides ≥ 500 mg/dL) is linked to acute pancreatitis and cardiovascular disease.
- APOA5 gene variants are associated with hyperlipoproteinemia type V and familial hypertriglyceridemia.
- Published case reports on variants of uncertain significance (VUS) with severe phenotypes and therapeutic responses are rare.
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Chronic Pancreatitis II: Pathophysiology
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Assessment:
Chronic Pancreatitis I: Introduction
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
Chronic Pancreatitis I: Introduction
Acute Pancreatitis II: Clinical Manifestations and Management