Research related to osteoporosis in Maltese women, carried out at the Faculty of Health Sciences at the University of Malta, identified a number of risk factors contributing to an increased risk of developing this condition and sustaining a fragility fracture.

These risk factors include a low body mass index, young age at menopause, low physical activity, a strong family history of osteoporosis, low blood levels of calcium, albumin and alkaline phosphatase, as well as a number of genetic mutations in factors controlling bone formation and destruction.

Over 1000 postmenopausal women were recruited for this research study (specifically selected due to postmenopausal oestrogen deficiency) and divided into cases and controls, depending on whether they had sustained a fracture or not.

In addition, two extended Maltese families having more than three affected relatives, were also recruited and studied. Genetic testing identified a number of genes as yet unidentified in other populations, thus warranting further testing and investigation.

Osteoporosis is a silent bone disease in which bone mass significantly deteriorates, giving rise to an increased fracture risk, especially if left undiagnosed. Being a silent disease, it relies on bone mineral density (BMD) measurements for diagnosis and for the prediction of future fragility fractures, highlighting the importance of BMD testing.

The most common and important fracture sites are the hip, spine and wrist, which are the most debilitating and inflict huge costs on the national health services throughout the world.

Results from this research study were presented at a number of international conferences focusing specifically on the genetics of osteoporosis and other musculoskeletal diseases. The research work was partially funded by a Strategic Educational Pathways Scholarship, part-financed by the EU – European Social Fund.

The study was carried out by Melissa Formosa, under the supervision of Angela Xuereb-Anastasi.

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