Familial hyperchylomicronemia syndrome is a monogenic autosomal recessive disorder that causes severe and refractory hypertriglyceridemia. This uncommon condition is challenging to diagnose and treat and can lead to comorbidities such as acute pancreatitis. Although treatment options are limited in the pediatric population, strict diets and treatments approved for other dyslipidemias may be implemented in familial hyperchylomicronemia syndrome, given the lack of pharmacological interventions available. We report a 14-year-old female presented to the emergency room with abdominal pain suggestive of acute pancreatitis. Biochemical analysis revealed a triglyceride value of 4260 mg/dL. Treatment for triglyceride reduction with a strict CHILD-2 triglyceride-lowering diet, insulin infusion, fibrates, and multiple plasmapheresis were initially insufficient. Primary hypertriglyceridemia was suspected, and genetic testing identified a homozygous pathogenic variant in the lipoprotein lipase gene, diagnosing familial hyperchylomicronemia syndrome. She was discharged with a maximum dose of fibrate, statin, omega-3 fatty acids, and a restrictive diet. At her 1-month and 9-month follow-ups, her triglyceride values were 756 and 495 mg/dL, respectively, without incident complications. Familial hyperchylomicronemia syndrome is an uncommon condition with limited available literature and treatment options, especially in the pediatric population. Acute pancreatitis secondary to severe hypertriglyceridemia is a condition with a high risk of mortality which requires prompt clinical suspicion and treatment.
Diabetic ketoacidosis is a life-threatening complication associated with type 1 diabetes (T1D). Recent evidence suggests that SARS-CoV-2 could trigger diabetic ketoacidosis in type 1 diabetes susceptibility and previous insulitis; however, the data on SARS-CoV-2-infected patients with diabetic ketoacidosis as their type 1 diabetes are still limited. We report a 13-year-old Latinamerican male with symptoms and laboratory tests diagnostic of diabetic ketoacidosis and positive SARS-CoV-2 reverse transcription polymerase chain reaction, who required mild COVID-19 care management, fluid resuscitation, and insulin infusion at a regular dose, without further complications after the acute infection. Clinical/biochemical improvement allowed outpatient endocrinology follow-up with insulin therapy and continuous glucose monitoring. To our knowledge, we report the first case of diabetic ketoacidosis as the debut of type 1 diabetes in a Colombian pediatric patient with concurrent SARS-CoV-2 infection. Therefore, this report aims to contribute to the global research on SARS-CoV-2 and diabetic ketoacidosis and discuss the approach to these concomitant pathologies.
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