Haemophilia A and B have been associated with increased prevalence of low bone mineral density (BMD). However, the utility of bone turnover markers (BTM) remains unknown. The aim of this study was to evaluate bone metabolism in men with haemophilia and to investigate associations between BTM and bone disease. Serum N- (NTX-I), C-terminal telopeptide of type I collagen (CTX-I) and tartrate-resistant acid phosphatase band-5b (TRAP-5b), as bone resorption markers, and osteocalcin (OC) and bone-specific alkaline phosphatase (b-ALP), as bone formation markers, were assessed. Seventy men with haemophilia A (n = 59) or B (n = 11) were studied. Patients with low BMD had significantly higher b-ALP concentrations compared with those with normal BMD (12.8 ± 1.60 vs. 9.72 ± 0.58 μg/L, P = 0.009), without any differences in the other BTM. NTX-I and CTX-I concentrations were negatively associated with oestradiol levels and hip BMD and positively with human immunodeficiency virus infection, number of affected joints and arthropathy scores. B-ALP and OC concentrations were negatively associated with hip BMD, severity of haemophilia and fracture history, and positively with the number of affected joints and testosterone concentrations. After multivariate analysis, NTX-I levels remained negatively associated with oestradiol levels, whereas b-ALP concentrations negatively correlated with the level of physical activity and positively with the number of affected joints. Increased bone metabolism exists in men with haemophilia and low BMD. Increased b-ALP levels may identify patients at high risk for fracture. Increased number of target joints, low physical activity and low oestradiol concentrations are independently associated with increased bone metabolism.

Several studies have shown that acromegaly is associated with increased psychological morbidity. However, it is not known whether this is attributed to acromegaly per se or to its chronicity as a debilitating disease affecting quality of life (QoL). The aim of this study was to assess psychological profile in acromegalics compared with those suffering from other serious chronic diseases and healthy controls. Secondary end points were QoL assessment and its association with mood disturbances. Comparative, cross-sectional study conducted in Northern Greece (2011-2012). The Greek versions of the Profile of Mood States (POMS) and AcroQoL questionnaires were used to assess psychological status and QoL, respectively. Forty acromegalics, 40 age- and sex-matched people with other chronic diseases and 80 healthy controls were included. No significant differences were identified between acromegalics and those suffering from other chronic diseases, regarding tension, anger, depression, confusion, fatigue and vigor. Compared with healthy controls, acromegalics suffered more from depression and anger, which remained significant after controlling for age, gender and marital status (p = 0.003 and p = 0.048, respectively). Negative predictors were female gender, macroadenomas and radiotherapy. AcroQoL scores were negatively associated with POMS subscales. Males had better QoL than females. Other than a negative association between AcroQoL-relationships subscale and disease duration, no association with other parameters was observed. Acromegaly has a negative impact on psychological status, which is worse than that of general population, but comparable to other chronic diseases. Mood disturbances are associated with impaired QoL, mainly in females and those with longer disease duration.

Haemophilia A and B has been associated with increased prevalence of low bone mass (67-86%). The aim of this study was to estimate the prevalence of bone disease in haemophiliacs and its association with potential risk factors. Adult patients with haemophilia A and B followed-up in the Haemophilia Centre of Northern Greece were included. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry (DXA) in lumbar spine (LS), femoral neck (FN), total hip (TH) and great trochanter (GT). One-hundred four male patients (aged 45.8 ± 15.1 years) and 50 controls (aged 44.9 ± 12.8 years) were screened. Low BMD was diagnosed in 28 patients (26.9%) and 10 controls (20%) (p=0.0001). Patients had lower BMD in TH (p=0.007), FN (p=0.029) and GT (p=0.008) than controls, without differences in LS. BMD was positively associated with the severity of haemophilia, history of herpes virus C or human immunodeficiency virus and level of physical activity, and negatively with the level of arthropathy. In multiple-regression analysis, only the level of physical activity and 25-hydroxyvitamin D [25(OH)D] significantly predicted BMD. Half of the patients had vitamin D deficiency. In conclusion, our study showed increased prevalence of low BMD in haemophiliacs. The levels of physical activity and 25(OH)D independently predicted low BMD.

Aim Hemophilia A and B has been associated with increased prevalence of low bone mineral density (BMD). However, the utility of bone turnover markers (BTM) is unknown. The aim of this study was to evaluate bone metabolism in men with hemophilia and investigate associations between BTM and bone disease. Methods Serum N- (NTX-I), C-terminal telopeptide of type I collagen (CTX-I) and tartrate-resistant acid phosphatase band-5b (TRAP-5b), as bone resorption markers, and osteocalcin (OC) and bone-specific alkaline phosphatase (b-ALP), as bone formation markers, were assessed. Results Seventy men (mean age 45.4±14.7 years) with hemophilia A (n=59) or B (n=11) were studied. Patients with low BMD had significantly higher b-ALP concentrations compared with those with normal BMD, without any differences in the other BTM. NTX-I and CTX-I concentrations were negatively associated with estradiol concentrations and hip BMD and positively with HIV infection, number of affected joints and arthropathy scores. B-ALP and OC concentrations were negatively associated with hip BMD, severity of hemophilia and fracture history, and positively with the number of affected joints and testosterone concentrations. In men with low BMD, NTX-I, TRAP-5b and b-ALP concentrations were positively correlated with the number of affected joints, whereas TRAP-5b concentrations were positively associated with arthropathy scores and negatively with the level of physical activity. Conclusion Increased bone metabolism exists in men with hemophilia and low BMD. Arthropathy, low physical activity and low estradiol concentrations are associated with increased bone resorption and may contribute to the pathogenesis of low BMD in these patients. Disclosures: No relevant conflicts of interest to declare.

IntroductionConflicting data exist regarding the role of leptin in bone metabolism. The purpose of the present study was to investigate serum leptin concentrations in male patients with haemophilia A and B, a disease known to be associated with low bone mass.Material and methodsEighty-one male patients, aged 45.4 ±15 years, were screened. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry (DXA) in lumbar spine (LS), femoral neck (FN) and total hip (TH).ResultsLow bone mass was diagnosed in 20 patients (24.7%). Serum leptin concentrations were strongly associated with body weight (r s = 0.457, p = 0.0001) and body mass index (BMI) (r s = 0.491, p = 0.0001). In unadjusted analysis leptin was inversely associated with BMD in LS (r s = –0.255, p = 0.023), but not in FN and TH (r s = –0.205, p = 0.068 and r s = –0.191, p = 0.090, respectively). However, after adjusting for BMI and body weight, leptin was inversely associated with BMD in FN (F 1,76 = 7.727, p = 0.007, β = –0.371, ΔR 2 = 0.089) and TH (F 1,76 = 4.533, p = 0.036, β = –0.290, ΔR 2 = 0.054), but not in LS (F 1,75 = 2.076, p = 0.154, β = –0.202, ΔR 2 = 0.026). No association was found between age, presence of HBV, HCV or HIV infection or alkaline phosphatase and leptin levels.ConclusionsOur study showed a negative association between circulating leptin levels and bone mass in males, independently of body weight and BMI.