Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis

OBJECTIVE: Arthropathy that mimics osteoarthritis (OA) and osteoporosis (OP) is considered a complication of hereditary hemochromatosis (HH). We have limited data comparing OA and OP prevalence among HH patients with different hemochromatosis type 1 (HFE) genotypes. We investigated the prevalence of OA and OP in patients with HH by C282Y homozygosity and compound heterozygosity (C282Y/H63D) genotype. METHODS: A total of 306 patients with HH completed a questionnaire. Clinical and demographic characteristics and presence of OA, OP and related complications were compared by genotype, adjusting for age, sex, body mass index (BMI), current smoking and menopausal status. RESULTS: In total, 266 of the 306 patients (87%) were homozygous for C282Y, and 40 (13%) were compound heterozygous. The 2 groups did not differ by median age [60 (interquartile range [IQR] 53 to 68) vs. 61 (55 to 67) years, P=0.8], sex (female: 48.8% vs. 37.5%, P=0.18) or current smoking habits (12.4% vs. 10%, P=0.3). As compared with compound heterozygous patients, C282Y homozygous patients had higher median serum ferritin concentration at diagnosis [1090 (IQR 610 to 2210) vs. 603 (362 to 950) µg/L, P<0.001], higher median transferrin saturation [80% (IQR 66 to 91%) vs. 63% (55 to 72%), P<0.001]) and lower median BMI [24.8 (22.1 to 26.9) vs. 26.2 (23.5 to 30.3) kg/m2, P<0.003]. The overall prevalence of self-reported OA was significantly higher with C282Y homozygosity than compound heterozygosity (53.4% vs. 32.5%; adjusted odds ratio [aOR] 2.4 [95% confidence interval 1.2-5.0]), as was self-reported OP (25.6% vs. 7.5%; aOR 3.5 [1.1-12.1]). CONCLUSION: Patients with C282Y homozygosity may be at increased risk of musculoskeletal complications of HH.

Influence of Apolipoprotein E Plasma Levels and Tobacco Smoking on the Induction of Neutralising Antibodies to Interferon-Beta

Interferon-beta (IFN-beta) therapy for multiple sclerosis (MS) is associated with a potential for induction of neutralizing antibodies (NAbs). Because immune reactivity depends on changes in lipoprotein metabolism, we investigated whether plasma lipoprotein profiles could be associated with the development of NAbs. Thirty-one female MS patients treated with subcutaneously administered IFN-beta were included. Demographic and clinical characteristics were compared between NAbs response groups using t tests for continuous and logistic regression analysis and Fisher's exact tests for categorical data, respectively. Multivariate logistic regression was used to evaluate the effect of potential confounders. Patients who developed NAbs had lower apoE levels before treatment, 67 (47-74) mg/L median (interquartile range), and at the moment of NAb analysis, 53 (50-84) mg/L, in comparison to those who remained NAb-negative, 83 (68-107) mg/L, P = 0.03, and 76 (66-87) mg/L, P = 0.04, respectively. When adjusting for age and smoking for a one-standard deviation decrease in apoE levels, a 5.6-fold increase in the odds of becoming NAb-positive was detected: odds ratios (OR) 0.18 (95% CI 0.04-0.77), P = 0.04. When adjusting for apoE, smoking habit became associated with NAb induction: OR 5.6 (95% CI 1.3-87), P = 0.03. These results suggest that apoE-containing lipoprotein metabolism and, possibly, tobacco smoking may be associated with risk of NAb production in female MS patients treated with IFN-beta.

Saúde Sexual e Reprodutiva das Adolescentes - a Nossa Realidade

Overview and Aims: Several behavioral and biological factors can make adolescents particularly vulnerable to unwanted pregnancies and sexually transmitted diseases. The aim of this study was to evaluate sexual behavior and contraceptive use patterns of a population of adolescents. Study Design: Retrospective study. Population: 163 female adolescents attending an Adolescence Unit for the first time, during 2010. Methods: Analysis of clinical charts and assessment of demographic data, smoking and drinking habits, drug use, gynecologic and obstetric history, sexual behavior and contraceptive use. Results: The mean age was 16.04 years (±1.32). 71.7% were students (of these, 70% had failed one or more years and were behind in their studies), 2.5% were working and 23.9% were neither studying or working. 95.1% had already had sexual intercourse and the mean age of first coitus was 14.53 years (±1.24). There was a history of at least one previous pregnancy in 77.3% of the cases. Before the first appointment at the AU, the contraceptive methods used were: the pill (33.2%, but 41.3% of these reported inconsistent use), and the condom (23.9%, with inconsistent use in 28.3% of these cases). 19.6% did not use any contraceptive method.. After counseling at the AU, 54% of the teenagers chose the contraceptive implant and 35% preferred the pill. Adolescents who had already been pregnant preferred a long acting method (namely, the contraceptive implant)in 61.9% of cases; those who had never been pregnant decided to use an oral contraceptive in 67.6% of cases (p<0.001). Conclusions: After counseling the number of teenagers using contraception increased. In this population there were a high number of adolescents with a previous pregnancy. This factor seems to have influenced the choice of the contraceptive method, with most of these adolescents choosing a long-acting method.