RESUMO
BACKGROUND: Neonatal severe hypertriglyceridemia is rarely reported in the literature and there is no consensus for hypertriglyceridemia management at this age group. METHODS: The index case is a 4-week-old male infant with severe hypertriglyceridemia accidentally discovered during a circumcision surgery. His clinical and genetic characteristics and his successful management strategy are described. Furthermore, a detailed ophthalmological examination of the proband was conducted at 3 and 6 months of age using Fourier-domain-optical coherence tomography. RESULTS: Triglycerides level at presentation was extremely high 33,727 mg/dL (380.8 mmol/L). Two sessions of exchange blood transfusion on two consecutive days successfully reduced triglycerides to 382 mg/dL (4.3 mmol/L) with no adverse effects. The infant was discharged 3 days later. At discharge, the mother was advised to continue breastfeeding together with a medium-chain triglycerides formula. Satisfactory growth parameters and lipid profile values were obtained for a follow-up duration of 5 months with no reported attacks of acute pancreatitis. Lipoprotein lipase deficiency was confirmed by the detection of the LPL homozygous pathogenic variant c.805G > A; p.(Glu269Lys). Early corneal and macular lesions were detected and persisted on follow-up despite relatively good lipemic control. CONCLUSION: This case highlights the importance of the early discovery of severe hypertriglyceridemia during the neonatal period, which is needed for prompt management and prevention of severe complications. Rationalized breastfeeding can be tolerated within the diet plan of the disease with satisfactory outcomes. To our knowledge, it is the first study reporting early corneal and macular affection by severe hypertriglyceridemia in a neonate. Prolonged follow-up is needed to determine the extent of ophthalmological lesions.
Assuntos
Hiperlipoproteinemia Tipo IV/terapia , Doenças do Recém-Nascido/terapia , Retina/patologia , Transfusão Total , Humanos , Hiperlipoproteinemia Tipo IV/patologia , Recém-Nascido , Doenças do Recém-Nascido/patologia , Masculino , Tomografia de Coerência Óptica , Triglicerídeos/sangueRESUMO
The leading cause of mortality in the United States is atherosclerotic cardiovascular disease (ASCVD). Atherosclerotic lesions begin during childhood and can place individuals at greater risk for ASCVD. Providers play an active role in preventing the progression of risk factors and future ASCVD events through appropriate clinical management of genetic and acquired dyslipidemias in the pediatric population. Health care providers need to be aware of current recommendations related to screening for dyslipidemia, lifestyle modification strategies, pharmacologic treatment, and guidelines for ongoing monitoring. Most patients with mild to moderate dyslipidemia can be managed by a primary care provider. It is imperative that providers understand the pathophysiology, screening methods, and available treatment options to effectively manage the condition. Frequent reassessment of family history and adherence to lifestyle modifications and pharmacologic interventions is essential for effective treatment.
Assuntos
Dislipidemias/terapia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Dieta Saudável , Dislipidemias/diagnóstico , Dislipidemias/tratamento farmacológico , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/terapia , Hiperlipoproteinemia Tipo IV/diagnóstico , Hiperlipoproteinemia Tipo IV/terapia , Hipolipemiantes/uso terapêutico , Lactente , Recém-Nascido , Guias de Prática Clínica como Assunto , Comportamento de Redução do Risco , Higiene do Sono , Adulto JovemRESUMO
Acute pancreatitis in pregnancy is rare and can be caused by hypertriglyceridaemia. The management of hypertriglyceridaemia in pregnancy is complex and challenging as many lipid-lowering medications have been found to be unsafe in pregnancy. Patients who present with hypertriglyceridaemia commonly have multiple risk factors such as, diabetes, alcohol excess and hypothyroidism which pose a greater challenge to the management of these patients. We present a case of a 31-year-old woman presenting with familial hypertriglyceridaemia and type 2 diabetes mellitus in her third pregnancy. She had an uneventful pregnancy with the use of omega-3 fatty acids nutritional support, low-fat diet and tight glucose control with insulin and metformin.
Assuntos
Diabetes Mellitus Tipo 2/terapia , Dieta com Restrição de Gorduras , Ácidos Docosa-Hexaenoicos/uso terapêutico , Ácido Eicosapentaenoico/uso terapêutico , Hiperlipoproteinemia Tipo IV/terapia , Pancreatite/prevenção & controle , Adulto , Diabetes Mellitus Tipo 2/complicações , Combinação de Medicamentos , Feminino , Humanos , Hiperlipoproteinemia Tipo IV/complicações , Gravidez , Complicações na Gravidez/tratamento farmacológico , Resultado da Gravidez , Triglicerídeos/sangueRESUMO
Hypertriglyceridemia is the third most common etiology of acute pancreatitis, but lacks a clear, evidence-based treatment approach. We present the case of a 25-year-old man who was admitted eleven times over seven years for hypertriglyceridemia-induced pancreatitis. In his first ten admissions, he received conservative therapy. During his eleventh admission, he underwent therapeutic plasma exchange with lowering of serum triglycerides from 5080 to 332 mg/dL. He was discharged on hospital day five and was noted to have persistently lowered triglyceride levels upon follow up. The case affirms plasma exchange's ability to rapidly lower serum triglyceride levels and provides future research opportunities for examining the long-term effects of this treatment.
Assuntos
Hiperlipoproteinemia Tipo IV/complicações , Pancreatite/etiologia , Troca Plasmática , Adulto , Humanos , Hiperlipoproteinemia Tipo IV/terapia , Masculino , Troca Plasmática/métodos , Triglicerídeos/sangueAssuntos
Hiperlipoproteinemia Tipo IV/diagnóstico , Lipase Lipoproteica/deficiência , Feminino , Humanos , Hiperlipoproteinemia Tipo IV/sangue , Hiperlipoproteinemia Tipo IV/genética , Hiperlipoproteinemia Tipo IV/terapia , Recém-Nascido , Lipase Lipoproteica/genética , Proteínas do Leite/uso terapêutico , MutaçãoRESUMO
Primary hyperchylomicronemia is characterized by a marked hypertriglyceridemia due to an increase in chylomicrons, which may cause acute pancreatitis and eruptive xanthomas. This entity includes familial lipoprotein lipase (LPL) deficiency, familial apolipoprotein C-II deficiency, primary type V hyperlipoproteinemia, and idiopathic hyperchylomicronemia. Idiopathic hyperchylomicronemia is caused by an LPL inhibitor or autoantibody against LPL. More recently, patients with primary hyperchylomicronemia caused by mutations in the gene for glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1(GPIHBP1) or lipase maturation factor 1(LMF1). For the treatment of primary hyperchylomicronemia, a strict restriction of dietary fat is essential to avoid acute pancreatitis.
Assuntos
Hiperlipoproteinemia Tipo IV , Hiperlipoproteinemia Tipo I , Apolipoproteína C-II/deficiência , Apolipoproteína C-II/genética , Apolipoproteína C-II/metabolismo , Autoanticorpos/sangue , Autoanticorpos/genética , Humanos , Hiperlipoproteinemia Tipo I/genética , Hiperlipoproteinemia Tipo I/terapia , Hiperlipoproteinemia Tipo IV/genética , Hiperlipoproteinemia Tipo IV/terapia , Lipase Lipoproteica/deficiência , Lipase Lipoproteica/metabolismo , Mutação/genéticaAssuntos
Hipertrigliceridemia/sangue , Hipertrigliceridemia/diagnóstico , Terapia Combinada , Estudos Transversais , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/epidemiologia , Diagnóstico Diferencial , Dieta com Restrição de Gorduras , Humanos , Hiperlipoproteinemia Tipo IV/sangue , Hiperlipoproteinemia Tipo IV/diagnóstico , Hiperlipoproteinemia Tipo IV/epidemiologia , Hiperlipoproteinemia Tipo IV/terapia , Hipertrigliceridemia/epidemiologia , Hipertrigliceridemia/terapia , Estilo de Vida , Lipídeos/sangue , Masculino , Pessoa de Meia-Idade , Obesidade/sangue , Obesidade/epidemiologia , Valores de Referência , Fatores de Risco , Triglicerídeos/sangueRESUMO
Monogenic disorders that cause abnormal levels of plasma cholesterol and triglycerides have received much attention due to their role in metabolic dysfunction and cardiovascular disease. While these disorders often present clinically during adulthood, some present most commonly in the pediatric population and can have serious consequences if misdiagnosed or untreated. This review provides an overview of monogenic lipid disorders that present with unusually high or low levels of plasma cholesterol and/or triglycerides during infancy, childhood and adolescence. Biochemical and genetic findings, clinical presentation and treatment options are discussed with an emphasis upon recent advances in our understanding and management of these monogenic disorders.
Assuntos
Dislipidemias , Serina Endopeptidases/genética , Adolescente , Ácidos e Sais Biliares/metabolismo , Criança , Dislipidemias/classificação , Dislipidemias/genética , Dislipidemias/metabolismo , Dislipidemias/terapia , Humanos , Hiperlipoproteinemia Tipo II/genética , Hiperlipoproteinemia Tipo II/metabolismo , Hiperlipoproteinemia Tipo II/terapia , Hiperlipoproteinemia Tipo IV/genética , Hiperlipoproteinemia Tipo IV/metabolismo , Hiperlipoproteinemia Tipo IV/terapia , Hipolipoproteinemias/genética , Hipolipoproteinemias/metabolismo , Hipolipoproteinemias/terapia , Mutação , Pró-Proteína Convertase 9 , Pró-Proteína ConvertasesAssuntos
Hiperlipoproteinemia Tipo IV/terapia , Complicações na Gravidez/terapia , Adulto , Cesárea , Ácidos Docosa-Hexaenoicos/uso terapêutico , Combinação de Medicamentos , Ácido Eicosapentaenoico/uso terapêutico , Feminino , Humanos , Hipolipemiantes/uso terapêutico , Gravidez , Resultado da Gravidez , Cuidado Pré-NatalAssuntos
Humanos , Hiperlipoproteinemia Tipo IV/prevenção & controle , Hiperlipoproteinemia Tipo IV/terapia , Hipertrigliceridemia/complicações , Hipertrigliceridemia/terapia , Hipertrigliceridemia/tratamento farmacológico , Niacina/administração & dosagem , Niacina/uso terapêutico , Ácido Clofíbrico/administração & dosagem , Ácido Clofíbrico/uso terapêutico , /administração & dosagem , /uso terapêutico , Doença das Coronárias/prevenção & controle , Doença das Coronárias/tratamento farmacológico , HDL-Colesterol/efeitos adversos , LDL-Colesterol/efeitos adversosRESUMO
CASE REPORT: A 24-year-old woman in her 13th gestational was admitted to our department with acute retrosternal and epigastric pain. She had been transferred from the gynecologic department where she was treated for vaginal bleeding because of abortus imminens. A cardiac cause was excluded by ECG and echo. Clinical chemistry and abdominal ultrasound confirmed the diagnosis of acute pancreatitis. The woman was known in our outpatient department for hyperchylomicronemia and had already had an earlier episode of acute pancreatitis under oral contraception years ago. At current admission, triglycerides were 11,500 mg/dl. To reduce plasma triglycerides, selective lipid apheresis was performed. Apheresis was well tolerated, and the patient became free of pain within the first 30 min of treatment. Triglycerides decreased to 6,600 mg/dl at this session. Keeping to a low-fat diet (< 30 g fat per day), the patient remained healthy and completed pregnancy with the delivery of a healthy girl in her 39th week of pregnancy. CONCLUSION: Selective lipid apheresis is a safe and effective option in the treatment of hyperlipidemic pancreatitis, even in pregnant patients.
Assuntos
Dor Abdominal/etiologia , Dor no Peito/etiologia , Hiperlipoproteinemia Tipo I/diagnóstico , Complicações Hematológicas na Gravidez/diagnóstico , Dor Abdominal/sangue , Doença Aguda , Adulto , Dor no Peito/sangue , Terapia Combinada , Dieta com Restrição de Gorduras , Feminino , Seguimentos , Humanos , Hiperlipoproteinemia Tipo I/sangue , Hiperlipoproteinemia Tipo I/terapia , Hiperlipoproteinemia Tipo IV/sangue , Hiperlipoproteinemia Tipo IV/diagnóstico , Hiperlipoproteinemia Tipo IV/terapia , Recém-Nascido , Pancreatite/sangue , Pancreatite/diagnóstico , Pancreatite/terapia , Gravidez , Complicações Hematológicas na Gravidez/sangue , Complicações Hematológicas na Gravidez/terapia , Primeiro Trimestre da Gravidez , Triglicerídeos/sangueRESUMO
OBJECTIVE: To report the case of an 85-year-old man with asymptomatic massive hypertriglyceridemia (MHTG). CLINICAL PRESENTATION AND INTERVENTION: Our case was a non-smoker, healthy 85-year-old Caucasian male, with no excessive alcohol intake and no evidence of an excessive sedentary lifestyle, body mass index = 23.2 kg/m(2), BP = 125/85 mm Hg and plasma triglyceride (TG) >1,000 mg/dl. The MHTG was an incidental finding at the age of 70. He had no cardiovascular disease, xanthomas, xanthelasmas or keratic precipitate. During the last 15 years, his average TG plasma levels showed a significant variability independent of specific diet treatment and fibrate therapy. Liver ultrasound examination excluded hepatomegaly and fatty degeneration. Carotid artery ultrasound showed only intimal thickening in both carotid bifurcations. CONCLUSION: In this patient, MHTG had been silent for many years, with no evidence of coronary heart disease and liver fatty degeneration, both typical complications present in MHTG subjects with low high-density lipoprotein. Hence, this case must be considered as a rarity.
Assuntos
Doença das Coronárias/diagnóstico , Doença das Coronárias/etiologia , Fígado Gorduroso/diagnóstico , Fígado Gorduroso/etiologia , Hiperlipoproteinemia Tipo IV/complicações , Hiperlipoproteinemia Tipo IV/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Doença das Coronárias/terapia , Fígado Gorduroso/terapia , Humanos , Hiperlipoproteinemia Tipo IV/terapia , Masculino , Índice de Gravidade de DoençaRESUMO
Neonatal hypertriglyceridaemia is extremely rare in pediatrics. We narrowed down the possibilities to a case of lipoprotein lipase (LPL) deficiency through a designed process of elimination with this particular patient. The biochemical hallmark of the disease is the presence of hyperchylomicronemia in fasting plasma. The patient responded well to a special formula containing median chain triglyceride (MCT). This was one of the youngest cases of hyperlipidemia and hyperlipoproteinemia to be reported during the neonatal period. Therefore the approach is mainly through the process of elimination because of inadequate laboratory facilities.
Assuntos
Hiperlipoproteinemia Tipo IV/genética , Lipase Lipoproteica/genética , Feminino , Humanos , Hiperlipoproteinemia Tipo IV/terapia , Recém-Nascido , Lipase Lipoproteica/deficiência , MutaçãoAssuntos
Hiperlipoproteinemia Tipo IV/terapia , Hipertrigliceridemia/terapia , Colesterol/sangue , LDL-Colesterol/sangue , Quilomícrons/sangue , Terapia Combinada , Humanos , Hiperlipoproteinemia Tipo IV/sangue , Hipertrigliceridemia/sangue , Hipertrigliceridemia/etiologia , Hipolipemiantes/uso terapêuticoRESUMO
Los perfiles de los tipos clásicos mencionados pueden encontrarse en forma aislada o en diversas combinaciones. Muchas veces el perfil resulta limítrofe entre dos clasificaciones, siendo difícil incluirlo en uno de los dos tipos. Este problema se presenta en el 10%de las muestras
Assuntos
Humanos , Eletroforese em Gel de Ágar/métodos , Lipoproteínas/análise , Hiperlipoproteinemias/diagnóstico , Hiperlipoproteinemias/sangue , Técnicas de Laboratório Clínico/métodos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/terapia , Hiperlipoproteinemia Tipo III/sangue , Hiperlipoproteinemia Tipo III/terapia , Hiperlipoproteinemia Tipo IV/sangue , Hiperlipoproteinemia Tipo IV/terapia , Hiperlipoproteinemia Tipo V/sangue , Hiperlipoproteinemia Tipo V/terapiaRESUMO
Los perfiles de los tipos clásicos mencionados pueden encontrarse en forma aislada o en diversas combinaciones. Muchas veces el perfil resulta limítrofe entre dos clasificaciones, siendo difícil incluirlo en uno de los dos tipos. Este problema se presenta en el 10%de las muestras
Assuntos
Humanos , Técnicas de Laboratório Clínico , Eletroforese em Gel de Ágar , Hiperlipoproteinemias/sangue , Hiperlipoproteinemias/diagnóstico , Lipoproteínas/análise , Hiperlipoproteinemia Tipo III/sangue , Hiperlipoproteinemia Tipo III/terapia , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/terapia , Hiperlipoproteinemia Tipo IV/sangue , Hiperlipoproteinemia Tipo IV/terapia , Hiperlipoproteinemia Tipo V/sangue , Hiperlipoproteinemia Tipo V/terapiaAssuntos
Hiperlipoproteinemia Tipo IV/metabolismo , Triglicerídeos/metabolismo , Clofibrato/uso terapêutico , Doença da Artéria Coronariana/etiologia , Dieta , Terapia por Exercício , Feminino , Humanos , Hiperlipoproteinemia Tipo IV/complicações , Hiperlipoproteinemia Tipo IV/terapia , Lipoproteínas VLDL/metabolismo , Fígado/metabolismo , Masculino , Ácidos Nicotínicos/uso terapêuticoRESUMO
A review of the literature confirms a regular and significant lowering of serum triglycerides by omega-3 fatty acids. This effect is the more pronounced the higher the initial levels are. Accordingly, in type V hyperlipoproteinemia, it is particularly marked. In normolipemic subjects and in patients with hypercholesterolemia (type IIA), total cholesterol is only slightly reduced. In patients with elevation of cholesterol and triglycerides (types IIB, IV and V), both triglycerides and cholesterol are lowered. This decrease is mainly obtained by reduction in VLDL cholesterol. In the case of types IV and V, on the other hand, triglyceride reduction is associated with an elevation of LDL and HDL cholesterol. At present, it is not clear whether the increase in LDL cholesterol is of a transient nature and prognostically irrelevant. It can be prevented by reducing the intake of saturated fat. HDL cholesterol is decreased by high doses and increased by low doses of omega-3 fatty acids. In the differential treatment of hyperlipoproteinemias, consideration should be given to these points.