Hipertrigliceridemia grave y síndrome de quilomicronemia familiar: una revisión de la literatura reciente / Severe hypertriglyceridemia and familial chylomicronemia syndrome: a review of recent literature

Resumen La hipertrigliceridemia (HTG) es un problema que se presenta con frecuencia en la práctica clínica. Su prevalencia en adultos es cercana al 10%. El espectro varía desde una predisposición que resulta en HTG solo en presencia de sobrepeso considerable o consumo excesivo de alcohol hasta mutaciones graves muy raras que pueden conducir a HTG grave en la infancia, incluso en ausencia de factores adicionales, como en el síndrome de quilomicronemia familiar (FCS, familial chylomicronemia syndrome). Este es un trastorno autosómico recesivo poco frecuente del metabolismo del quilomicrón que causa una importante elevación de los triglicéridos (>10 mmol/885 mg/dl). Esta condición está asociada con un riesgo significativo de pancreatitis aguda recurrente. La aproximación diagnóstica se logra mediante la caracterización fenotípica, y el hallazgo de la alteración genética ayuda a dar un diagnóstico más preciso. Además, se ha propuesto una puntuación clínica para el diagnóstico de FCS, pero necesita más validación. Las opciones de tratamiento disponibles para reducir los triglicéridos, como los fibratos y los ácidos grasos omega-3, no son eficaces en los pacientes con FCS. Actualmente, el único tratamiento sigue siendo una dieta de por vida muy baja en grasas, que reduce la formación de quilomicrones. Finalmente, los inhibidores de la apolipoproteína C-III están en desarrollo y podrían constituir opciones de tratamiento para estos pacientes. Considerando lo anterior, el objetivo de este artículo es realizar una revisión general sobre la HTG grave, con énfasis en el FCS, basados en la literatura disponible más reciente.

Abstract Hypertriglyceridemia (HTG) is a problem that occurs frequently in clinical practice. Its prevalence in adults is close to 10% and it varies between regions. The spectrum ranges from a disposition that results in HTG only in the presence of considerable overweight and/or excessive alcohol consumption to very rare serious mutations that can lead to severe HTG in childhood, even in the absence of additional factors such as familial chylomicronemia syndrome (FCS). This is a rare autosomal recessive disorder of chylomicron metabolism that causes a severe elevation in triglyceride levels (>10 mmol/885 mg/dL). This condition is associated with a significant risk of recurrent acute pancreatitis. Because this is a genetic condition, the optimal diagnostic strategy remains the genetic test. In addition, a clinical score for the diagnosis of FCS has been proposed but it needs further validation. Available treatment options to lower triglycerides, such as fibrates or omega-3 fatty acids, are not effective in patients with FCS. Currently, the cornerstone of treatment remains a very low-fat, lifetime diet that reduces chylomicron formation. Finally, apolipoprotein C-3 inhibitors are under development and may eventually be treatment options for these patients. The objective of this article is to carry out a general review of severe HTG, with an emphasis on FCS and based on the most recent available literature.

Severe hypertriglyceridemia caused by autoimmune disease：Case summary and literature review / 中华内分泌代谢杂志

[Summary]_ Severe hypertriglyceridemia is the third common cause of acute pancreatitis following after alcohol abuse and cholelithiasis. Moreover, it is also an important risk factor of cardiovascular events. However, the cases of severe hypertriglyceridemia caused by autoimmune disease were rare in clinical, which would bring the difficulty for diagnosis and treatment. A better understanding of the clinical characteristics, possible pathogenesis, and corresponding therapy of the disease would be helpful, which would reduce the risk of complications, and finally improve both the survival rate as well as quality of life of these patients.

Cheese-like Material in the Heart: An Autopsy Case Report of Severe Hypertriglyceridemia in Diabetic Ketoacidosis Patient / 대한법의학회지

Here we report an autopsy case of diabetic ketoacidosis (DKA) with severe hypertriglyceridemia (12,900 mg/dl). A 29-year-old woman with a history of type 1 diabetes was found dead at a motel. There was no injury on external inspection, but a lump of cheese-like material was noted in the heart at autopsy and peripheral blood plasma had a creamy appearance. After postmortem biochemical analysis, we made a diagnosis of DKA with severe hypertriglyceridemia and concluded that these unusual autopsy findings were caused by DKA and postmortem change. Uncontrolled diabetes often causes DKA and hypertriglyceridemia. To the best of our knowledge, this is the first report in Korea of DKA with severe hypertriglyceridemia diagnosed by autopsy.