ABSTRACT
Descrevemos o caso de uma paciente de 19 anos diagnosticada com hipobetalipoproteinemia primária. A paciente apresentava sintomas compatíveis com a doença como diarreia desde o primeiro mês de vida, défice de crescimento e retinopatia. A biópsia duodenal evidenciou presença de vacúolos lipídicos intraepiteliais, os quais foram altamente sugestivos para o diagnóstico. Os exames complementares evidenciaram disfunção hepática, baixos níveis séricos de triglicerídeos, e de colesterol total e frações. Após a dosagem de apolipoproteína B abaixo dos valores da normalidade, aliada a clínica e exames complementares, o diagnóstico foi realizado. A relativa escassez de dados na literatura em nosso meio, atrelada à raridade da doença, ilustra a relevância deste relato de caso, somado à importância do diagnóstico precoce
The case of a 19-year-old female patient who was diagnosed with Primary Hypobetalipoproteinemia (HBL) is described.The patient presented symptoms that were consistent with the disease, such as diarrhea from the very first month of life, growth failure and retinopathy. The duodenal biopsy showed the presence of intraepithelial lipid vacuoles that were highly suggestive of the diagnosis. Further tests showed liver dysfunction, low serum levels of triglycerides and total cholesterol and fractions. After the dosage of Apolipoprotein B below normal values, and clinical exam along with laboratory tests, the diagnosis was made. The lack of data in the literature and the rarity of the disease illustrate the importance of this case report,and of an early diagnosis.
Subject(s)
Humans , Female , Adult , Abetalipoproteinemia/therapy , Hypobetalipoproteinemia, Familial, Apolipoprotein B/diagnosis , Hypobetalipoproteinemia, Familial, Apolipoprotein B/therapy , Vitamins/therapeutic use , Apolipoproteins B/genetics , Vitamin K/therapeutic useABSTRACT
Los biomarcadores de riesgo aterogénico están presentes desdeetapas tempranas de la vida, uno de ellos son las apolipoproteínas. Estas juegan un papel fundamental en eldesarrollo de aterosclerosis según resultados de numerosos estudios epidemiológicos. El objetivo del trabajo fue evaluar los niveles de apolipoproteínas (apo) A-I y B y el coeficiente apo B/ apo A-1 en niños dislipidémicos. Se realizó un estudioobservacional, descriptivo, de corte transversal con muestreo no probabilístico. En una población de 132 niños, de ambos sexos, entre 4 a 13 años de edad, pertenecientes a 4 escuelas rurales de diferentes localidades del Paraguay, se encontraron 38 niños hipercolesterolémicos en quienes además se evaluaron los niveles de apolipoproteínas A-I y B. Se obtuvo consentimiento informado de los padres. El colesterol total fue medido por elmétodo enzimático automatizado y las apolipoproteínas A-I y B por el método inmunoturbidimétrico. Las concentraciones medias de apo A-I y B fueron de 159,89 ± 28,63 mg/dl y 99,79 ± 20,86 mg/dl respectivamente, la concentración media de colesterol fue de 192 ± 22,31. La media del cociente apo B/apo A-I fue de 0,64. Se detectaron niveles moderados a altos de apo B, en un considerable número de niños (63,5 %), y una correlación positiva entre las apolipoproteínas B y el colesterol, un 10, 53 % de los niños presentaron riesgo aterogénico alto deacuerdo al cociente apo B/apo A-I.
Biomarkers for atherogenic risk are present early in life, one such biomarker are the apolipoproteins. Apolipoproteins play a key role in the development of atherosclerosis according to results of numerous epidemiological studies. Our objective was to assess the levels of apolipoprotein (apo) A1 and B and the apo B/A-1 ratio in dyslipidemic children. We performed an observational, descriptive, cross-sectional study with nonprobabilistic sampling. In a population of 132 children aged 4 to13 years of both sexes from 4 rural schools in different parts of Paraguay, levels of apolipoproteins A-1 and B were assessed in 38 who were found to be hypercholesterolemic. Informedconsent was obtained from parents. Total cholesterol was measured by the automated enzymatic method andapolipoproteins A1 and B by the immunoturbidimetric method. Mean concentration was 159.89 ±28.63 mg/dl for apo A-1 and 99.79 ±20.86 mg/dl for apo B, while the mean cholesterol concentration was 192 ±22.31. The mean ratio of apo B/A1 was 0.64. We detected moderate to high levels of apo B in a considerable number of children (63.5%), and a positive correlation between apolipoprotein B and cholesterol. Some10.53% of children demonstrated high atherogenic risk as shown by the apo B/A1 ratio found.
Subject(s)
Humans , Apolipoprotein A-I , Hypobetalipoproteinemia, Familial, Apolipoprotein B , Child, PreschoolABSTRACT
Chronic hepatitis C virus (HCV) infection is often associated with fatty liver. Apolipoprotein B (ApoB) deficiency is one of the known causes of fatty liver and acquired ApoB deficiency has recently been reported with HCV infection. We report two patients (47-year-old lady and 48-year-old man) who had asymptomatic transaminase elevation, fatty liver, anti-HCV positive with high viral load (genotype 3). Their lipid profile showed low total cholesterol, low-density lipoprotein, triglycerides and ApoB. One of the patients who received treatment for HCV infection showed improvement in lipid profile and ApoB levels.