Background: Secondary fracture prevention services (FLS) have been established around the world during several last years. However, due to the differences of medical care organization in different regions, it is difficult to offer a unified approach of the structure and separate components of such services, which could be used everywhere. It is recommended to apply the Plan-Do-Study-Act (PDSA) cycle to evaluate the FLS in the institution.

Aim: To study the application of the PDSA cycle in the optimization  of FLS working in Yaroslavl.

Materials and methods: We evaluated the effectiveness of FLS organization which was created in the Emergency medical care hospital n.a. N. V. Solovyov at two stages of its development: at the first stage we worked using the principle «by referral of a traumatologist», at the second stage we used a dedicated coordinator. We used the questionnaire «Best Practice framework» for assessment. We also used PDSA cycle to analyze and evaluate the effectiveness of FLS organization.

Results: At the stage «by referral of a traumatologist» we revealed problems with patients’ identification, timing of assessment after a fracture, low frequency of initiation of osteoporosis therapy, lack of a falls prevention system and problems with a database. After the analysis and revealing shortcomings we’ve made several changes in the organization of our FLS. First of all we introduced a dedicated coordinator-nurse in the staff of FLS.The following analysis showed that significant improvements had been made in all revealed directions. The following application of the PDSA cycle again identified  several issues of FLS organization requiring improvement.

Conclusion: Thus, the use of the PDSA cycle during the organization of FLS is a tool of effective control and establishment of an effective care system  for patients with low-energy fractures.

Acromegaly is a chronic endocrine disease characterized by excessive secretion of growth hormone (GH), which, in turn, leads to increased insulin-like growth factor 1 (IGF-1) secretion by the liver. GH and IGF-1 excess leads to excessive cell and tissue growth, including the osteoarticular apparatus. Joint pain in acromegaly is a frequent and early symptom. In some cases, joint manifestations can be one of the first signs of acromegaly and their intensity increases with duration of the active disease. Estimated prevalence of joint damage signs is around 70% of patients at the time of diagnosis of acromegaly. Musculoskeletal system alterations can manifest either in axial skeleton and peripheral joints. Besides arthropathy, patients with acromegaly (both active and controlled) are more prone to vertebral fractures, although it was previously thought that acromegaly has a low risk of osteoporosis. In this article, we review features of damage to the axial skeleton, peripheral joints in the setting of excessive GH and IGF-1 production, as well as the association of autoimmune rheumatic diseases and acromegaly.

Osteoporosis is the most common cause of low bone mineral density (BMD) and low-traumatic fractures in adults. However, differential diagnosis should also consider other causes of decreased BMD, including osteomalacia, as treatment for these conditions vary significantly. Osteomalacia is a systemic disorder characterized by decrease in bone strength due to of excessive accumulation of non-mineralized osteoid and uncoupling between bone matrix formation and mineralization. Osteomalacia in adults mostly develops due to severe vitamin D deficiency of any etiology, less often – along with kidney pathology, mesenchymal tumors secreting fibroblast growth factor 23 or hereditary metabolic bone diseases. Clinical symptoms of osteomalacia are nonspecific and mostly manifest by generalized diffuse bone pain, muscle weakness, skeletal deformities and often go unnoticed at initial stage of the disease. Histomorphometric examination is the most accurate method of the diagnosis, which allows assessment of bone formation rate and calcification. The utmost priority of the treatment of osteomalacia of any etiology is the elimination of vitamin D deficiency, hypocalcemia, hypophosphatemia and prevention of bone deformities progression and muscle hypotension.

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. Main clinical manifestations include recurring pathological fractures and progressive skeletal deformation. Five types of OI are distinguished based on clinical symptoms. In most cases, the disease is caused by mutations in the COL1A1 and COL1A2 genes, leading to a defect of type 1 collagen synthesis, which is the main component of the bone matrix. Up to 5% of patients with OI have a mutation in IFITM5 gene, which leads to the development of OI type V. Approximately 150 cases of the OI type V are described in the literature, and mutation c.-14C> T in IFITM5 gene is found in most of the cases. Only 5 patients have a c.119C> T: p.S40L.mutation.

Pathogenesis of OI type V is not fully understood. It is assumed that mutations in the IFITM5 gene cause impaired osteoblastogenesis, decreased bone mineral density and multiple low-traumatic fractures. There is probably a phenotype-genotypic correlation in cases with different mutations of the IFITM5. However, it is currently difficult to assess the relationship in view of the variability of the characters and the low prevalence of the OI type V.

We present the first description in Russia of the clinical case of an adult patient with OI type V due to a rare mutation p.119C> T: p.S40L in the IFITM5 gene.