Positive Family History Of Osteoporosis Research Articles

Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.

ContextMany different inherited and acquired conditions can result in premature bone fragility/low bone mass disorders (LBMDs).ObjectiveWe aimed to elucidate the impact of genetic testing on differential diagnosis of adult LBMDs and at defining clinical criteria for predicting monogenic forms.MethodsFour clinical centers broadly recruited a cohort of 394 unrelated adult women before menopause and men younger than 55 years with a bone mineral density (BMD) Z-score < -2.0 and/or pathological fractures. After exclusion of secondary causes or unequivocal clinical/biochemical hallmarks of monogenic LBMDs, all participants were genotyped by targeted next-generation sequencing.ResultsIn total, 20.8% of the participants carried rare disease-causing variants (DCVs) in genes known to cause osteogenesis imperfecta (COL1A1, COL1A2), hypophosphatasia (ALPL), and early-onset osteoporosis (LRP5, PLS3, and WNT1). In addition, we identified rare DCVs in ENPP1, LMNA, NOTCH2, and ZNF469. Three individuals had autosomal recessive, 75 autosomal dominant, and 4 X-linked disorders. A total of 9.7% of the participants harbored variants of unknown significance. A regression analysis revealed that the likelihood of detecting a DCV correlated with a positive family history of osteoporosis, peripheral fractures (> 2), and a high normal body mass index (BMI). In contrast, mutation frequencies did not correlate with age, prevalent vertebral fractures, BMD, or biochemical parameters. In individuals without monogenic disease-causing rare variants, common variants predisposing for low BMD (eg, in LRP5) were overrepresented.ConclusionThe overlapping spectra of monogenic adult LBMD can be easily disentangled by genetic testing and the proposed clinical criteria can help to maximize the diagnostic yield.

The Influence of Non-preventable Risk Factors on the Development of Osteoporosis in Postmenopausal Women.

Introduction:Scientific studies show that many genetic factors can significantly contribute to the onset of osteoporosis in women.Aim:The aim of our study was to determine whether non-preventable risk factors (certain genetic predisposition - positive parameters of family and personal history, i.e. family history of osteoporosis, family history of fractures, osteoporotic fractures, previous fractures, menopause duration) can affect the occurrence of osteoporosis in women in postmenopausal age.Methods:The study was performed as matched case and controls study. A group of cases consisted of 100 female postmenopausal women in whom by the DEXA method was newly diagnosed osteoporosis at the Clinic for Endocrinology, Diabetes and Metabolism of the University Clinical Center of Republic Srpska during 2015-2016, while the control group consisted of 100 female postmenopausal women without diagnostic signs of osteoporosis. Groups were matched by age (± 2 years). In order to collect demographic data and data on risk factors for osteoporosis and life habits of patients, the Bone Mineral Density Questionnaire for females of the Irish Society for Osteoporosis was used.Results:The results of the univariate logistic regression in our study did not show that early loss of the menstrual cycle before 50 years of age was a significant factor for osteoporosis in postmenopausal women (p=0.421, OR=0.966, 95% CI=0.889-1.051). The analysis of the data of a positive family history of osteoporosis as a risk factor by the model of the multivariate of logistic regression shows that the presence of osteoporosis in close relatives (usually the mother) represents a significant and independent risk factor for the development of osteoporosis (p=0.003, OR=4.567, 95% CI=1.674- 12.460). The results of the study show that the presence of earlier fractures in the tested subjects is a significant independent risk factor for osteoporosis (p=0.015, OR=2.464, 95% CI=1.195-5.084).Conclusion:The results of our study show that the presence of osteoporosis in close relatives (usually the mother) and the existence of previous fractures are significant risk factors for the occurrence of osteoporosis. The presence of these factors may be the reason for the selection of patients for further preventive or curative procedures.

Lifestyle and Preventive Behaviors of Osteoporosis among Women of Reproductive Age in Qazvin-Iran: A Cross Sectional Study

Introduction: Osteoporosis is a silent illness with many negative consequences that can decrease women's quality of life and daily life activities and even cause death. The aim of this study was to examine the lifestyle and preventive behaviors related to osteoporosis among women of reproductive age in Qazvin city, Iran. Methods: In this cross-sectional study, 300 women (mean age = 30.75 ± 7.47 years) were selected using the stratified cluster sampling method. A researcher-made questionnaire consisting of 15 questions on the patterns of nutrition, physical activity, and specific preventive behaviors related to osteoporosis and demographic factors was used for data collection. Data were analyzed using Chi-square with Fisher's exact test and logistic regression model. Results: The study results showed that most women (73.3%) had a positive family history of osteoporosis and 65.3% of them consumed carbonated beverages at least twice a week. Furthermore, 46.7% of them used coffee twice a week. There was a statistically significant relationship between their age (P

Prevalence and Risk Factors of Osteoporosis Among Jordanian Postmenopausal Women Attending the National Center for Diabetes, Endocrinology and Genetics in Jordan.

To assess the prevalence of osteoporosis and osteopenia among Jordanian postmenopausal women attending the National Center for Diabetes, Endocrinology, and Genetics (NCDEG), and to determine the potential associated risk factors. A cross-sectional study was conducted at (NCDEG) in Amman, Jordan. A total of 1079 Jordanian postmenopausal women aged between 45 and 84 years were included in this study that was conducted during the period between April 2013 and December 2014. All patients underwent bone mineral density measurement through dual-energy X-ray absorptiometry (DEXA) scan. DEXA scan was interpreted in terms of T score as per World Health Organization guidelines. The overall prevalence of osteoporosis and osteopenia was 37.5% and 44.6%, respectively. The maximum prevalence of osteoporosis was observed at the lumbar spine (32.4%) followed by the left femoral neck (14.4%), while the maximum prevalence of osteopenia was observed at the left femoral neck (56.1%) followed by the lumbar spine (41.3%). Patients with longer menopausal duration, normal or overweight body mass index, high parity, physical inactivity, positive family history of osteoporosis, inadequate sun exposure, high daily caffeine intake, low daily calcium intake, and delay in the age of menarche were all positively associated with osteoporosis. On the other hand, women with type 2 diabetes mellitus had lower risk of osteoporosis. There is a high prevalence of osteoporosis and osteopenia among Jordanian postmenopausal women. Necessary steps are needed for more public education and a wider dissemination of information about osteoporosis and its prevention.

The knowledge of osteoporosis risk factors and preventive practices among women of reproductive age in the state of Qatar: a cross-sectional survey

Background: Osteoporosis is a global health problem and its prevalence is rapidly increasing worldwide. Misunderstanding about osteoporosis and the lack of preventive action among women are still common, making primary prevention at an early age the preferable intervention. This study aims at assessing the knowledge of osteoporosis and preventive practices among women aged 20-44 years. Furthermore, the planning for osteoporosis prevention requires sufficient information about women`s health beliefs, knowledge, and preventive practices as well as the cultural and socioeconomic features.Methods: This is a cross-sectional study where participants were recruited using cluster sampling with proportionate allocation. The sample (N=766) consisted of eligible women, attending the primary health care centers in Qatar during 2010, and they were interviewed using the modified Osteoporosis Knowledge Assessment Tool (OKAT). The period of this study was between January 2010 and December 2011.Results: The overall knowledge score was 61.4%, with the risk factors knowledge component being the lowest at 50%. A statistically significant relation was noted between the overall knowledge score and age, the level of education, marital status, and positive family history of osteoporosis. About 79% of the participants reported being exposed to direct sun rays for &gt; 30 minutes /week, while only 33.6% of them were engaging in proper weight bearing exercise. Finally, the food consumption score was low at 45.4%, especially when it came to fruits and vegetables (39.6%).Conclusions: The knowledge of osteoporosis risk factors, the practice of weight bearing exercise, and the consumption of calcium and vitamin D rich diet were low. Thus, it is necessary to integrate the different components of osteoporosis prevention into a comprehensive women health program.

Osteoporosis in primary care: an opportunity to approach risk factors

IntroductionClimacteric women are susceptible to a number of changes, among them osteoporosis. Osteoporosis is a disease characterized by low bone mass and susceptibility to fracture. Currently, this disease is a public health issue, being necessary to recognize its risk factors. ObjectivesIdentify risk factors related to osteoporosis in women attending PROPIS/PROEX/UFMA, tracing a socio-demographic characterization and considering community lifestyles. Material and methodsThis is a transversal retrospective clinical with a quantitative approach study conducted between March and June 2013 in São Luís-MA with 107 women treated at the Programa de Práticas de Integralidade em Saúde (PROPIS – Integrality Health Practice Program). The study was approved by the University Hospital Ethics Committee of UFMA under opinion no. 362/07. Data were tabulated and analyzed in the epidemiological Epi-Info® software, version 3.4.1. ResultsThe brown color was predominant, consensual relationships proved to be a protective factor and low education was a risk factor. The average age of the group with menopause was 54.1 years and without menopause was 31.3 years (p<0.0001). The average age of menopause was 43.7 years. The irregular menstrual cycle was a protective factor. The average number of pregnancies was 4.56 for the group with menopause and 2.45 for the group without menopause, with most births occurring normally (p<0.0001). Smoking, physical inactivity and caffeine intake were risk factors, while the absence of alcoholism and of soda intake were protective factors for the disease. ConclusionThe patients followed the socioeconomic and demographic profile of Maranhão. Most had menarche and menopause in appropriate periods, showed no positive family history of osteoporosis, did not usually drink alcohol, were sedentary and the caffeine intake was high.

PREVALENCE AND CORRELATES OF OSTEOPOROSIS IN ELBASAN REGION, ALBANIA

BACKGROUND: The information on the size and determinants of osteoporosis in population-based studies from Albania is scarce. The aim of this study was do assess the prevalence and correlates of osteoporosis in Elbasan, which constitutes one of the biggest regions in Albania. Methods: A cross-sectional study was conducted in Elbasan prefecture in 2013. A representative sample of 983 primary health care users aged 50 years and over was included (57% females, 43% males; overall response rate: 98%). B one densitometry was used to establish the presence of osteoporosis among study participants. Binary logistic regression was employed to assess the association of osteoporosis with covariates. RESULTS: Overall, the prevalence of osteoporosis in this sample was 59% (N=579). There was evidence of a positive association of osteoporosis with female gender (OR=12.8, 95%CI=9.4-17.4), older age (OR=2.0, 95%CI=1.5-2.6), heredity (OR=1.7, 95%CI=1.3-2.3), a low-calcium dietary pattern (OR=1.7, 95%CI=1.3-2.2), physical inactivity (OR=1.8, 95%CI=1.3-2.4) and a lower body mass (OR=1.8, 95%CI=1.2-2.7). CONCLUSION: Our study provides useful evidence about the prevalence and correlates of osteoporosis in Elbasan region. Female sex, older age, a positive family history of osteoporosis, a dietary pattern low in calcium, physical inactivity and a lower body mass were all positively and significantly associated with osteoporosis in this study population. Keywords: Albania, bone densitometry, Elbasan, fractures, osteoporosis.

Osteoporose na atenção primária: uma oportunidade para abordar os fatores de risco

IntroductionClimacteric women are susceptible to a number of changes, among them osteoporosis. Osteoporosis is a disease characterized by low bone mass and susceptibility to fracture. Currently, this disease is a public health issue, being necessary to recognize its risk factors. ObjectivesIdentify risk factors related to osteoporosis in women attending Propis/Proex/UFMA, tracing a socio‐demographic characterization and considering community lifestyles. Material and methodsThis is a transversal retrospective clinical with a quantitative approach study conducted between March and June 2013 in São Luís (MA) with 107 women treated at the Programa de Práticas de Integralidade em Saúde (Propis ‐ Integrality Health Practice Program). The study was approved by the University Hospital Ethics Committee of UFMA under opinion no. 362/07. Data were tabulated and analyzed in the epidemiological Epi‐Info® software, version 3.4.1. ResultsThe brown color was predominant, consensual relationships proved to be a protective factor and low education was a risk factor. The average age of the group with menopause was 54.1 years and without menopause was 31.3 years (p<0.0001). The average age of menopause was 43.7 years. The irregular menstrual cycle was a protective factor. The average number of pregnancies was 4.56 for the group with menopause and 2.45 for the group without menopause, with most births occurring normally (p<0.0001). Smoking, physical inactivity and caffeine intake were risk factors, while the absence of alcoholism and of soda intake were protective factors for the disease. ConclusionThe patients followed the socioeconomic and demographic profile of Maranhão. Most had menarche and menopause in appropriate periods, showed no positive family history of osteoporosis, did not usually drink alcohol, were sedentary and the caffeine intake was high.

Adverse Effects of Corticosteroids on Bone Metabolism: A Review

Glucocorticoid (GC) exposure is the most common etiology of drug-induced (secondary) osteoporosis. Twenty percent of all cases of osteoporosis have been attributed to GC exposure. Significant risk factors for the development of fractures after GC exposure include age older than 65 years, prolonged GC exposure (>3 months), positive family history of osteoporosis, and low calcium intake. GCs are known to inhibit bone remodeling and to increase fracture risk. GC exposure alters the fragile balance between osteoclast and osteoblast activity in bone metabolism. GC stimulates osteoclast-mediated bone resorption and reduces osteoblast-mediated bone formation, which results in increased overall net bone resorption. Specifically, the 2 main effects of GCs on bone metabolism are (1) inducing apoptosis in osteoblasts and osteocytes, thereby decreasing bone formation, and (2) prolonging the lifespan of osteoclasts and increasing bone resorption. The risk of fracture decreases 3 months after cessation of GC therapy; thus, a 3-month period may be ideal between GC exposures in patients at high risk for the development of osteoporosis. Patients managed with GCs who are at high risk for the development of secondary osteoporosis should have appropriate diagnostic testing; pre-GC exposure medication management (ie, use of bisphosphonates, human parathyroid hormone); and a limitation of GC therapy, with a wait period of 3 months between GC exposures if possible.

Osteoporosis in men: are we referring enough for DXA and how?

The aim of the study is to determine the pattern of male referrals to an osteodensitometry unit in a tertiary hospital in UAE. In this study, we reviewed the records of male patients referred for dual X-ray absorptiometry over 9 months since the establishment of the unit. Indications for scanning were categorized into high and medium risk and infrequent causes of osteopenia/osteoporosis. They were ranked according to frequency. The outcome was documented by category and patients were considered normal when they have bone mineral densities (BMD) over 0.82 g/cm(2), osteopenia between 0.60 and 0.82 g/cm(2), and osteoporosis below 0.60 g/cm(2) for hips and lumbar spine. The site with the lowest value was taken as representative of the patient's BMD status. The ages of the patients ranged from 16 to 91 years (mean of 55.2 years). Male referrals made up 8.8% (71/805) over the 9-month period. The number of indications was 83 accounting for 1.16 per patient. Most common reasons were patients on corticosteroid therapy (20.5%), bone rarefaction on radiographs (13%), and fragility fractures (12%). Others included back pain, general aches and pains, querying osteoporosis, and miscellaneous causes that made up 8.5% each. These were followed by immobilization, (6%) arthropathies (6%), excess alcohol intake (3.5%), aging, (2.5%), and hepatorenal disorders (2.5%). A positive family history of osteoporosis, treatment for neoplasia, smoking, and chronic obstructive airway disease (1% each) were the least common reasons for referral. Thirty-five patients (49%) had osteopenia, 16 (22.5%) had osteoporosis, and 20 (28%) were normal. The low referral rate and relatively high normal outcome among men suggest that osteoporosis is still viewed as a disease of females. This aberrant referral pattern, when viewing the majority of indications, reflects an inability to prioritize the reasons for referral. It is prudent, therefore, to instill an awareness of the increasing importance of osteoporosis in men in the minds of the referring clinicians.

Increased 2-Hydroxylation of Estrogen in Women with a Family History of Osteoporosis

Recent studies indicate that women with predominant estrogen metabolism through the 2-hydroxyl (inactive) pathway have lower bone mineral density (BMD) compared with those with predominant 16alpha-hydroxylation (active). Although many factors have been identified to affect estrogen metabolism, the role of a family history of osteoporosis remains unknown. The objective of this study was to investigate the influence of family history of osteoporosis and other clinical factors on estrogen hydroxylation. This was a cross-sectional study conducted in a university-based research center from May 2002 to February 2004. The participants included 175 otherwise healthy postmenopausal women at least 1 yr from the last menstrual period. Main outcome measures were urinary estrogen metabolites and BMD of the spine and femur. Women with a family history of osteoporosis had significantly higher log-transformed ratios of 2-hydroxyestrone/16alpha-hydroxyestrone (0.303 +/- 0.03 vs. 0.226 +/- 0.03; P = 0.04) and 2-methoxyestrone/16alpha-hydroxyestrone (0.024 +/- 0.02 vs. -0.036 +/- 0.02; P = 0.03) compared with women without family history. As expected, these women also had significantly lower BMD at the total femur, trochanter, and intertrochanter. Surprisingly, calcium intake positively correlated with metabolite levels, and women in the highest quartile of calcium intake had the highest levels of urinary metabolites. In conclusion, women with a positive family history of osteoporosis have predominant estrogen metabolism through the inactive 2-hydroxyl pathway; thus, the increased risk of osteoporosis in those with family history may in part be related to inherited differences in estrogen metabolism. The finding that calcium intake modulates estrogen hydroxylation has never been reported and thus deserves additional investigation.

Bone density estimates and risk factors for osteoporosis in young women

The bone mineral density (BMD) of the calcaneus was estimated in 185 young women from the United Arab Emirates, using SAHARA ultrasound. All participants completed a questionnaire on factors potentially associated with osteoporosis. In all, 29 (15.7%) of the women were classified as having osteopenia and none as having osteoporosis. Participants with osteopenia were more likely to have had a later onset of menarche, irregular periods, lower body mass index, and a positive family history of osteoporosis. Only late menarche and low body mass index, however, were independent predictors of osteopenia.

Osteoporosis with vertebral fractures associated with pregnancy and lactation

Three cases of young women who developed severe vertebral osteoporosis after pregnancy and during lactation are described. These patients shared several features: a low-calcium diet during most of their lives, very-low body weight in two patients, and a positive family history of osteoporosis in two patients. Initial studies disclosed vertebral fractures, severely diminished bone mineral density of the spine ( Z score = −3.3 to −4.1), and a less severely affected bone mineral density of the hip ( Z score = −1.6 to −2.3). During the prolonged follow-up of these patients, treated with oral biphosphonates, vitamin D, and calcium, an improved clinical response with a marked recovery of spine bone mineral density was observed. Poor general nutrition, low calcium intake, and a positive family history of osteoporosis appear to be strong risk factors for pregnancy- and lactation-associated osteoporosis. Although the mechanism of action is uncertain, calcium, vitamin D, and antiresorptive agents may have been beneficial in the treatment of this severe disorder.

Gerontologic aspects of postmenopausal measurement of bone density and prevention of osteoporosis

I. Among 454 postmenopausal women to undergo bone mineral density (BMD) examination 7 out of 10 were aged 50 to 70 years. 1. 50 of patients older than 70 years had BMD examination because of being clinically suspicious of osteoporosis. 2. In this group of age 4 out of 10 women had BMD results of the lumbar spine below 0,8 gcm2. 3. Half of all women aged up to 50 years had a positive family history of osteoporosis. 4. Patients older than 60 years often underestimated their own risk of osteoporosis. 5. 50 of women up to the age of 50 and only one sixth of women older than 70 said they had very good to good knowledge of osteoporosis. 6. Resentments against estrogen substitution are rapidly growing with every decade of age. 7. Only one third of the women selected by BMD-indication were ready to accept longterm estrogen substitution to prevent osteoporosis. II. 4 out of 10 women had entered menopause maximally 8 years ago.1. Out of this group 6 of 10 patients were substituted with estrogen. 2. When menstruation had sisted more than 15 years ago the BMD examination indication, clinically suspicious of osteoporosis, rose immensely and made up for 50 of patients. 3. One third to one half of patients who had reached menopause more than 22 years ago showed pathological BMD results, which means they were at risk of fractures. 4. In this group only 1 in 10 women had a positive history of osteoporosis. III. Obese postmenopausal women (more than 25 of overweight according to Broca) had pathologic BMD results only half as often as postmenopausal women with normal weight. Summing it up these facts may be the basis of special counselling on the prevention of osteoporosis by estrogen substitution.

Estrogen status and heredity are major determinants of premenopausal bone mass.

To analyze their relative effects on premenopausal bone mass, we have studied the impact of lifelong estrogen exposure, assessed by an estrogen score (ES; computed on age at menarche, average length of menstrual cycles since menarche, and use of birth control pills), heredity, and some environmental factors on vertebral bone density (VBD), of 63 premenopausal women (age, 19-40 yr). Compared with women with normal bone density (Z score > -1), subjects with low VBD (Z score < -1) had significantly lower ES (15.1 +/- 3.9 vs. 18.7 +/- 2.4, P = 0.001), higher age at menarche (13.8 +/- 1.7 vs. 12.6 +/- 1.4 yr, P = 0.005), and lower serum estradiol (46.9 +/- 37 vs. 86.6 +/- 57 pg/ml, P = 0.023) and estrone levels (107.4 +/- 60 vs. 178.8 +/- 9.0 pg/ml, P = 0.05). Likewise, women in the lowest quartile for VBD had significantly lower ES (15.3 +/- 4.5 vs. 18.1 +/- 2.7, P = 0.006) and higher age at menarche (13.9 +/- 1.9 vs. 12.8 +/- .4, P = 0.02) than those in the upper three quartiles. A higher proportion of subjects with irregular menses (52 vs. 23%, P = 0.03) and a positive family history of osteoporosis (86 vs. 61%, P = 0.04) was found in the low VBD group compared with subjects with normal VBD. VBD correlated positively with ES (r = 0.44, P = < 0.001) and negatively with age at menarche (r = -0.30, P = 0.03) by simple linear regression, whereas no correlation was found between VBD and age, body mass index, parity, lactation, physical activity, sunlight exposure, and dietary calcium and vitamin D intakes. The correlation between VBD and ES improved after correcting for the effect of all the other variables by partial correlation analysis (Pearson partial r = 0.57, P = < 0.01), which also disclosed a significant contribution of dietary calcium to VBD. However, ES was the only significant independent determinant of VBD, by stepwise multiple regression analysis (R2 = 0.24). Therefore, premenopausal estrogen exposure, and possibly genetic predisposition, rather than environmental factors, are the major determinants for the development of peak bone mass before menopause.

Identification of women at risk for developing postmenopausal osteoporosis with vertebral fractures: role of history and single photon absorptiometry

Putative risk factors for the development of postmenopausal osteoporosis (PMO) with vertebral fractures were examined in a retrospective study of 663 postmenopausal white females aged 45–75 years (266 women with non-traumatic vertebral compression fractures (VF+), 134 non-fractured women from a general medicine clinic (controls) and 263 non-fractured women who were evaluated when they presented specifically for osteoporosis screening (VF−)). The VF+ women differed from control women in several respects. The VF+ group reported a higher prevalence of a positive family history of osteoporosis, and a higher prevalence of a history of medical or surgical conditions known to be independently associated with metabolic bone disease, had fewer children, were smaller (weight, height) and were slightly older. The two groups, VF+ and controls, did not differ with respect to cigarette smoking, alcohol consumption, exercise habits, menstrual or menopausal history, dietary intake of milk and cheese or in amount taking calcium supplements during pregnancy. The VF+ group also differed in certain respects from the VF− group. The VF+ group were smaller (weight, height) and were older. The VF+ group had lower cortical bone mass (measured by single photon absorptiometry of the non-dominant forearm) than either the control or VF- groups. The latter two groups did not differ from each other with respect to this measurement. These markers demonstrated limited sensitivity and specificity as estimated from a confirmatory data set, particularly for the historical and anthropometric variables. We conclude that an assessment of the risk of developing PMO with vertebral fractures cannot be based on the putative risk factors as measured in our study, but must be based on measurement of bone mass.