Search

ObjectiveGH deficiency (GHD) in adults is associated with an altered serum lipid profile that responds to GH replacement therapy (GHRT). This study evaluated the influence of polymorphisms in genes related to lipid metabolism on serum lipid profile before and after 1 year of GHRT in adults.Design and methodsIn 318 GHD patients, total cholesterol (TC) serum concentrations, LDL-C, HDL-C, and triglycerides (TG) were assessed. Using a candidate gene approach, 20 single nucleotide polymorphisms (SNPs) were genotyped. GH dose was individually titrated to obtain normal serum IGF1 concentrations.ResultsAt baseline, the minor alleles of cholesteryl ester transfer protein (CETP) gene SNPs rs708272 and rs1800775 were associated with higher serum TC and apolipoprotein E (APOE) gene SNP rs7412 with lower TC concentrations;CETPSNPs rs708272, rs1800775, and rs3764261 and apolipoprotein B (APOB) gene SNP rs693 with higher serum HDL-C;APOESNP rs7412, peroxisome proliferator-activated receptor gamma (PPARG) gene SNP rs10865710 with lower LDL-C, andCETPSNP rs1800775 with higher LDL-C; andAPOE/C1/C4/C2cluster SNP rs35136575 with lower serum TG. After treatment,APOBSNP rs676210 GG genotype was associated with larger reductions in TC and LDL-C andPPARGSNP rs10865710 CC genotype with greater TC reduction. All associations remained significant when adjusted for age, sex, and BMI.ConclusionsIn GHD adults, multiple SNPs in genes related to lipid metabolism contributed to individual differences in baseline serum lipid profile. The GH treatment response in TC and LDL-C was influenced by polymorphisms in theAPOBandPPARGgenes.

A Síndrome Hipereosinofílica é uma desordem rara com prevalência estimada entre 0.36-6.3/100.000 habitantes, com seu diagnóstico através da contagem absoluta de eosinófilos superior a 1500 células/mm³ em duas medidas com intervalo mínimo entre elas de quatro semanas e/ou aumento no número de eosinófilos nos tecidos. Além disso, é preciso que haja lesão/disfunção orgânica associada e exclusão de causas potenciais de eosinofilia.Este é um caso de um paciente masculino, 49 anos, com um quadro de dispneia aos pequenos esforços, edema e dor em panturrilha direita, sem outras comorbidades prévias. Ao hemograma verificou-se a média de 30.021 eosinófilos, ultrassonografia de membros inferiores com trombose venosa em veia femoral direita, e tomografia torácica demonstrando trombo distal em artéria pulmonar direita. Apesar de essa síndrome ser rara, sempre deve-se estar atento para suspeitar do seu diagnóstico e trata-la rapidamente, evitando complicações letais.