Abstract
The word osteoporosis means “porous bone” a disease that is defined as a skeletal disorder characterized by alterations in its microarchitecture making the bones more porous and less dense, leading to a decrease in bone strength, generating a greater risk of fractures.
It is a disease considered among the greatest public health problems in the elderly population worldwide, affecting women to a greater extent; around a third of women suffer from osteoporosis and one in eight men over 50 years of age.
Known as a silent disease because significant signs do not appear before fractures appear, so in most cases, people realize they have osteoporosis until they suffer a fracture. Osteoporotic fractures have various risk factors, from low physical activity, smoking, and the use of certain drugs, as well as genetic variations that have been associated with diverse types of fractures.
There is a considerable group of drugs to treat the disease, however, management is only focused on monotherapy according to the quantitative value of a phenotype (BMD) bone mineral density. It has never focused on individual pathophysiology, since it was unknown. The main treatment guidelines for osteoporosis include a bisphosphonate and it is maintained for years depending on response, in addition to lifestyle and dietary recommendations. However, a controversial aspect is the low response to treatment, which is accompanied by poor adherence to treatments.
The new drugs that have more intense and prolonged effects are expensive and are not available in most countries. Much progress has been made in terms of knowledge of the factors that contribute to the development of this and other pathologies. Diversity of variations in the genome has been implicated both in the development of the disease and in the response to pharmacological treatments.
Many of these variations in the genome and its expression represent part of the genetic factors that contribute to the development of the disease. They are now important biomarkers that allow us to better understand and develop more specific drugs or individualized schemes with those already existing. There are already various scores and indications of first guidelines on how to quantify these factors, such as the Polygenic Risk Score (PRS) or Mendelian Randomization (MR). However, there is still a need to analyze and expand the perspectives of how the factors involved interact without being specifically additive/summative, and the difficulties that this face have already been observed.
The aims of this brief review are to discuss shortly the actual drugs approved for osteoporosis by the main treatment guidelines. The advances in molecular biology studies that support the importance of genetic factors in risk and response to osteoporosis treatment.