title: Endocrine and bone disease in appropriately treated adult patients with beta-thalassemia major.
abstract: With the optimization of transfusional and chelation regimens, beta-thalassemia has changed from a pediatric disease with poor life expectancy into a chronic disease. Bone demineralization is an important cause of morbidity in older patients; the etiology is multifactorial and partially unknown. We examined, cross-sectionally, 111 adult patients with beta-thalassemia major (66 females and 45 males, 32.6 ± 6 years) who were regularly transfused, sufficiently chelated and replaced for endocrine defects. Bone demineralization was detected in 92.7% of patients with different severity according to gender and site: osteopenia was the prominent finding at the femur, osteoporosis at the lumbar spine (p < 0.001), more evident in males. The femoral site was more influenced by biochemical and clinical factors; despite adequate replacement, the femoral T-score was lower in the hypogonadic group than in the eugonadic group (p = 0.047). A significant correlation was found between the bone mass and body mass index (BMI), alkaline phosphatase (ALP), and pre-transfusional Hb levels. The multivariate analysis indicated as significant regressors ALP, BMI and hypoparathyroidism (T-score, p = 0.005, 0.035, and 0.002; Z-score, 0.002, 0.009, and 0.003, respectively) at the femoral site; whereas, only ALP at the lumbar spine (p = 0.008 and 0.045 for T-and Z-scores, respectively). The statistical significance was reached more frequently by the T-score, while the Z-score seemed to be a less sensitive parameter. Despite best care facilities, bone demineralization in thalassemic patients remains a challenge. Further exploration of the relationships between bone loss and endocrine, biochemical and hematologic parameters is warranted to find effective measures to reduce the risk of fracture in this disease.
authors.affiliation: Internal Medicine 1 A, Department of Internal Medicine, University of Milan, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, via F. Sforza 35, 20122, Milan, Italy. marina.baldini@policlinico.mi.it
authors.forename: Marina
authors.initials: M
authors.lastname: Baldini
authors.forename: Stella
authors.initials: S
authors.lastname: Forti
authors.forename: Alessia
authors.initials: A
authors.lastname: Marcon
authors.forename: Fabio Massimo
authors.initials: FM
authors.lastname: Ulivieri
authors.forename: Alessandra
authors.initials: A
authors.lastname: Orsatti
authors.forename: Benedetta
authors.initials: B
authors.lastname: Tampieri
authors.forename: Lorena
authors.initials: L
authors.lastname: Airaghi
authors.forename: Laura
authors.initials: L
authors.lastname: Zanaboni
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D000328:Adult; D000469:Alkaline Phosphatase / Q000378:metabolism; D001803:Blood Transfusion; D015992:Body Mass Index; D015519:Bone Density; D001851:Bone Diseases, Metabolic / Q000150:complications* / Q000453:epidemiology; D002118:Calcium / Q000097:blood; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000453:epidemiology; D007502:Iron Chelating Agents / Q000627:therapeutic use; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D015675:Osteocalcin / Q000378:metabolism; D010024:Osteoporosis / Q000150:complications* / Q000453:epidemiology; D010758:Phosphorus / Q000097:blood; D015995:Prevalence; D055815:Young Adult; D017086:beta-Thalassemia / Q000150:complications* / Q000628:therapy
chemical_list: D007502:Iron Chelating Agents; D015675:Osteocalcin; D010758:Phosphorus; D000469:Alkaline Phosphatase; D002118:Calcium