Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant

Familial chylomicronemia is caused by deficiency of lipoprotein lipase or its co-activators. Here, we report an infant with apolipoprotein C-II (APOC2) deficiency, who developed acute pancreatitis 37 days after birth. He presented as abdominal sepsis with fever, irritability and abdominal distention...

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Veröffentlicht in:Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2020-06, Vol.20 (4), p.644-646
Hauptverfasser: Yıldız, Yılmaz, Uysal Yazıcı, Mutlu, Çınar, Hasibe Gökçe, Özbay Hoşnut, Ferda, Kurt Çolak, Fatma, Kılıç, Mustafa
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Sprache:eng
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Zusammenfassung:Familial chylomicronemia is caused by deficiency of lipoprotein lipase or its co-activators. Here, we report an infant with apolipoprotein C-II (APOC2) deficiency, who developed acute pancreatitis 37 days after birth. He presented as abdominal sepsis with fever, irritability and abdominal distention. Amylase levels were low, but lipase levels and imaging findings were consistent with acute pancreatitis. He had severe hypertriglyceridemia (1091 mg/dl). Keeping him nil orally for two days resulted in rapid decrease in triglyceride levels and resolution of the clinical findings. APOC2 gene sequencing revealed a homozygous splice-site mutation (c.55+1G>C). To the best of our knowledge, this patient is not only the youngest reported patient with APOC2 deficiency, but also the youngest such patient who developed pancreatitis. Although he had a severe presentation, invasive methods to treat hypertriglyceridemia were not necessary. We emphasize that clinical findings and amylase levels are not reliable to diagnose pancreatitis in this age group.
ISSN:1424-3903
1424-3911
DOI:10.1016/j.pan.2020.03.008