Ankle fractures are common in older people. However, their association with osteoporosis remains controversial. This systematic review aims to determine the relationship between ankle fracture and bone mineral density (BMD). The article presents an overview of articles that have statistical data on the relationship of bone mineral density with the frequency of ankle fractures in the elderly. The aim of the review is to define ankle fracture associations in the geriatric population. Search was performed in PubMed, Medline, Scopus publications for articles in which a study of elderly patients with ankle fractures was conducted with an assessment of bone mineral density, followed by statistical processing with the presentation of the results. Ankle fractures in the geriatric population are due to generalized bone loss and changes in trabecular bone microarchitectonics, fragility, and therefore should be considered osteoporotic fractures, regardless of BMD. Correlation relationships were established with female sex, overweight, type 2 diabetes mellitus, arterial hypertension, which are characterized by a decrease in the trabecular structure. The FRAX fracture algorithm underestimates the likelihood of fractures in geriatric patients who have a high BMI and comorbid physical pathology, so it is necessary to focus on independent clinical risk factors for BMD in order to optimize fracture prevention.

We would like to present a clinical case of severe primary hyperparathyroidism due to a parathyroid carcinoma of atypical location in a patient with chronic kidney disease of complex etiology and multinodular goiter. Patient S., 59 years old, was followed-up for a long time in tertiary referral hospitals for “chronic tubulointerstitial nephritis with nephrosclerosis”, secondary hyperparathyroidism due to chronic kidney disease (CKD) G3–4, osteoporosis, and a multinodular euthyroid colloid goiter. In July 2021 she was referred to the Endocrinology Research Centre in order to clarify the diagnosis because of the persistence of an extremely high level of parathyroid hormone (PTH) despite cinacalcet treatment. During examination, primary hyperparathyroidism, a left parathyroid gland lesion, multinodular goiter with subclinical thyrotoxicosis, and vitamin D deficiency were diagnosed. After the removal of the left parathyroid gland lesion (histologically confirmed parathyroid carcinoma) and a left-sided hemithyroidectomy, hypocalcemia («hungry bone syndrome») developed, but the level of parathyroid hormone remained elevated. After 3–18 months after surgery, no data for relapse of primary hyperparathyroidism was obtained. The persistent moderate increase in PTH was regarded as secondary hyperparathyroidism in CKD and hypocalcemia. Complex therapy of osteoporosis with the antiresorptive drug denosumab, vitamin D and its active metabolite, calcium preparations, and parathyroidectomy led to a significant increase in bone mineral density (BMD) and no repeated fractures 18 months after surgery.

Conclusion. In patients with pre-dialysis CKD and high PTH levels, it is necessary to make a differential diagnosis between primary (PHPT) and secondary hyperparathyroidism (SHPT). Severe manifestations of primary hyperparathyroidism can be suspicious for parathyroid carcinoma.

Pachydermoperiostosis (primary hypertrophic osteoarthropathy) is an orphan disease, the main clinical manifestations of which include pin-shaped deformity of the fingers according to the type of «drumsticks», periostosis (non-inflammatory changes of the periosteum) of tubular bones, pachydermia of the face (hypertrophy and hyperplasia of all skin layers). Two genes associated with the development of pachydermoperiostosis are known — HPGD and SLCO2A1. Mutations in these genes lead to impaired prostaglandin E2 metabolism. This article describes a clinical case of a patient with pachydermoperiostosis, in which two mutations in the HPGD gene were detected during a molecular genetic study: in 1 exon (chr4-174522451-T-A, NM_000860.6:c.1A>T) and in 2 exon (chr4-174521985-AG-, NM_000860.6:c.175_176del) in compound-heterozygous state, while the c.1A>T mutation was previously described once, and the revealed biallelic combination of mutations in the HPGD gene was not previously found in the literature. This clinical case of pachydermoperiostosis is the second described in the Russian population, and the first with confirmed mutations in the HPGD gene. The article expands the knowledge about the correlation of genotype and phenotype in pachydermoperiostosis, which contributes to a faster and more correct interpretation of genetic information during genetic counseling.

A female patient with early surgical menopause and severe S-shaped scoliosis was diagnosed with osteoporosis at the place of residence and treated with a bisphosphonate (zoledronic acid). Despite the deformity of the spine and chest, the patient had no complaints until recently and led an active lifestyle. During X-ray densitometry at the National Medical Research Center for Therapy and Preventive Medicine, in particular when examining the lumbar spine, there were difficulties with positioning the patient for correct scanning of the area of interest and, as a result, obtaining information about the true state of trabecular bone tissue. Bone mineral density (BMD) in the proximal femur was consistent with osteopenia. Additional laboratory and instrumental parameters, such as biochemical markers of bone remodelling (osteocalcin and C-terminal type 1 collagen telopeptide) and trabecular bone score (TBS), also did not allow to precise the risk of fractures and make an unambiguous conclusion about the necessity of continuing antiresorptive therapy. Given the low BMD values in lumbar spine (T-score -4.8 SD) and the possibility of developing vertebral compression fractures as a result of minimal trauma with further chest deformity progression and vital organs failure, it was decided to continue treatment with zoledronic acid. Further therapeutic tactics will be determined after the next scheduled examination in 1 year.