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Primary hyperchylomicronemia syndrome treated with ciprofibrate in childhood
Síndrome de hiperquilomicronemia primaria tratado con ciprofibrato en la infancia
Marcos M. Lima-Martíneza,b,
Corresponding author
marcoslimamedical@hotmail.com

Corresponding author.
, Martha Piñangoa, Miguel Lima-Ostosa,c
a Departamento de Ciencias Fisiológicas, Escuela de Ciencias de la Salud, Universidad de Oriente, Ciudad Bolívar, Venezuela
b Unidad de Endocrinología, Diabetes, Metabolismo y Nutrición, Anexo A, Centro Médico Orinoco, Ciudad Bolívar, Venezuela
c Consultorio Dermatológico «Lima-Ostos», Ciudad Bolívar, Venezuela
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Primary hyperchylomicronemia syndrome or hyperlipoproteinemia type 1 &#40;HLP-1&#41; of the Fredrickson classification is a genetic disorder characterized by markedly increased triglyceride and chylomicron levels in blood which causes a high risk of pancreatitis and other complications&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">1</span></a> The syndrome is caused by mutations in the gene that encodes the enzyme lipoprotein lipase &#40;LPL&#41; or&#44; less commonly&#44; by mutations in genes encoding other proteins required for LPL function&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">2</span></a> The condition is usually diagnosed in childhood&#44;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">1</span></a> an age for which the use of lipid lowering drugs is controversial&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">We report the case of a three-year-old girl with no family history of consanguinity or primary hyperlipidemia who was referred for severe hypertriglyceridemia &#40;8492<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#41; and hypercholesterolemia &#40;584<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#41; measured at two years and 10 months of age&#46; A physical examination revealed 17<span class="elsevierStyleHsp" style=""></span>kg of weight&#44; a height of 98<span class="elsevierStyleHsp" style=""></span>cm&#44; and a body mass index of 17&#46;7<span class="elsevierStyleHsp" style=""></span>kg&#47;m<span class="elsevierStyleSup">2</span> &#40;between the 90th and 97th percentiles&#41;&#46; Eruptive xanthomas were found on the face&#44; shoulders&#44; buttocks&#44; and upper and lower limbs&#46; Eye fundus examination found <span class="elsevierStyleItalic">lipemia retinalis</span>&#44; and abdominal palpation revealed hepatomegaly with no splenomegaly&#46; Repeat lipid profile tests showed a lactescent plasma which contained 475<span class="elsevierStyleHsp" style=""></span>mg&#47;dL of total cholesterol&#44; 4727<span class="elsevierStyleHsp" style=""></span>mg&#47;dL of triglycerides&#44; and 32<span class="elsevierStyleHsp" style=""></span>mg&#47;dL of HDL cholesterol&#46; Lipoprotein electroforesis showed a marked elevation of chylomicrons only&#46; A complete blood count disclosed normochromic&#44; normocytic anemia &#40;10&#46;2<span class="elsevierStyleHsp" style=""></span>g&#47;dL&#41;&#46; An abdominal ultrasound examination confirmed hepatomegaly&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Based on the clinical signs and symptoms of the patient and on data from supplemental tests&#44; the patient was diagnosed HLP-1 and prescribed a low-fat diet &#40;18<span class="elsevierStyleHsp" style=""></span>g&#47;day&#41; and the addition of medium-chain triglycerides &#40;30<span class="elsevierStyleHsp" style=""></span>mL daily in salads&#41;&#46; Despite this&#44; the patient was seen again after two months of treatment for abdominal pain&#44; and testing revealed a triglyceride level of 3273<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#46; There was no elevation of liver enzymes or amylase&#46; In view of the persistence of hypertriglyceridemia&#44; the patient was prescribed ciprofibrate&#44; 50<span class="elsevierStyleHsp" style=""></span>mg daily after supper&#44; which achieved a significant clinical improvement at four months of treatment&#46; Lipid levels were as follows&#58; 191<span class="elsevierStyleHsp" style=""></span>mg&#47;dL of total cholesterol&#44; 169<span class="elsevierStyleHsp" style=""></span>mg&#47;dL of triglycerides&#44; 44<span class="elsevierStyleHsp" style=""></span>mg&#47;dL of HDL cholesterol&#44; and 112<span class="elsevierStyleHsp" style=""></span>mg&#47;dL of LDL cholesterol&#46; Transaminase and creatine phosphokinase levels were not increased&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">A genetic analysis found no changes in the gene sequence of apolipoprotein C-II <span class="elsevierStyleItalic">&#40;APOC2&#41;</span>&#44; apolipoprotein A-V <span class="elsevierStyleItalic">&#40;APOA5&#41;</span>&#44; and <span class="elsevierStyleItalic">GPIHBP1</span> &#40;the protein transporting LPL to capillaries&#44; which serves as a platform for chylomicron hydrolysis mediated by this enzyme&#41;&#46; Analysis of the LPL gene <span class="elsevierStyleItalic">&#40;LPL&#41;</span> showed a variant of the promoter 1-281C¿T which was not associated with any mutation&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">After two years of treatment with ciprofibrate&#44; the patient had not experienced new episodes of abdominal pain or new eruptive xanthomas&#46; Lipid levels in the last assessment included 212<span class="elsevierStyleHsp" style=""></span>mg&#47;dL of total cholesterol&#44; 307<span class="elsevierStyleHsp" style=""></span>mg&#47;dL of triglycerides&#44; 112<span class="elsevierStyleHsp" style=""></span>mg&#47;dL of LDL&#44; and 37<span class="elsevierStyleHsp" style=""></span>mg&#47;dL of HDL&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">In children&#44; hypertriglyceridemia is defined as plasma triglyceride levels above the 95th percentile for age and sex&#44; and HLP-1 is the best example of severe hypertriglyceridemia&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">3</span></a> HLP-1 is a disorder of autosomal recessive inheritance&#44; and the screening of first-degree relatives is therefore required&#46; Our patient&#44; however&#44; had no siblings&#44; and her parents had no lipid profile changes&#46; It should be noted that the variant of the promoter 1-281C¿T in the <span class="elsevierStyleItalic">LPL</span> gene has not been reported in the literature&#44; but it could not have caused the hypertriglyceridemia found in the patient because it causes no changes in the amino acid sequence and does not therefore impair LPL function&#46; In this regard&#44; Surendran et al&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">2</span></a> showed in 86 subjects with severe forms of hypertriglyceridemia that common variants were found in <span class="elsevierStyleItalic">LPL</span> and <span class="elsevierStyleItalic">APOA5</span> in 26&#37; of cases&#44; and that no mutation was found in 21&#37;&#46; These data open up new avenues for the study of novel candidate genes regulating triglyceride metabolism&#46; No relationship exists between genotype and phenotype&#44; but women with HLP-1 often experience anemia&#44;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">4</span></a> which was also found in our patient&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">The basic treatment consists of dietary fat restriction to no more than 20<span class="elsevierStyleHsp" style=""></span>g&#47;day<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">5</span></a>&#59; in this pediatric patient&#44; however&#44; diet adherence was poor because of its low palatability&#46; The use of medium-chain triglycerides is also recommended&#44; because they enter the bloodstream without being incorporated into chylomicrons&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">5</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">Fibric acid derivatives &#40;fibrates&#41; are recommended for the treatment of hypertriglyceridemia&#46; These are agonists of the peroxisome proliferator-activated receptor alpha&#44; and decrease extracellular triglyceride levels by inducing transcription of the <span class="elsevierStyleItalic">LPL</span> gene and reducing the expression of the apolipoprotein C-III gene&#44; an LPL inhibitor&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">6</span></a> To our knowledge&#44; no other case of HLP-1 treated with ciprofibrate has been reported in the literature&#46; However&#44; there is evidence of the effective and safe use of gemfibrozil 300<span class="elsevierStyleHsp" style=""></span>mg in two children with HLP-1 aged seven and four years&#46;<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">7</span></a> Genotyping was not performed in these cases&#44; but there is evidence that patients with a heterozygous mutation in <span class="elsevierStyleItalic">APOA5</span> respond adequately to medical treatment&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">4</span></a> It may thus be that the response to fibrates in patients with HLP-1 is dependent on the existence of significant residual LPL activity&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">The main adverse effects derived from the use of fibrates are gastrointestinal&#46; Wheeler et al&#46;<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">8</span></a> conducted a prospective&#44; randomized study in 14 children with familial hypercholesterolemia treated with bezafibrate and found good tolerability and no adverse effects on both growth and pubertal development&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">There is now evidence favoring the use of gene therapy in patients with HLP-1&#46; Access to these new agents is limited&#44; and the use of gene therapy requires the detection of the causative mutation in the <span class="elsevierStyleItalic">LPL</span> gene and the absence of LPL mass&#44; so that our patient would have been discarded as a suitable candidate&#46; Nutritional management combined with the use of fibrates may therefore be an effective and safe option in children with primary hyperchylomicronemia syndrome&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of interest</span><p id="par0055" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest related to this manuscript&#46;</p></span></span>"
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        "texto" => "<p id="par0060" class="elsevierStylePara elsevierViewall">To Dr&#46; Joep Defesche and the staff of the Department of Vascular Medicine of the Academic Medical Center in Amsterdam &#40;The Netherlands&#41; for the performance of genetic tests&#46; We also thank Sylvia Wertheim&#44; from Novartis Venezuela&#44; for her assistance in the literature review&#46;</p>"
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