Registry of rare bone diseases. Experience in a center of the city of Rosario
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Abstract
Introduction: A rare disease (RD) is defined as one whose prevalence in the population is equal to or less than 1 in 2,000 individuals. This term not only relates to the few reported cases but also to the lack of understanding of their pathophysiology or the absence of therapeutic options to treat them. They are also referred to as “orphan diseases” or “rare diseases.” It is estimated that currently, there are more than 8,000 different rare diseases.
Methodology: A retrospective study was conducted from January 2013 to December 2024. Medical records of patients diagnosed and followed for rare bone diseases, where the initial consultation was due to bone involvement (defined as persistent bone pain or non-traumatic fractures), were analyzed. Both male and female patients of all ages were included. Patients with rare diseases not involving bone, as well as those diagnosed with rare diseases of rheumatologic, endocrinologic, infectious, neoplastic causes, or those presenting with osteoporosis or osteoporotic fractures, were excluded.
Results: A registry of 133 cases of rare bone diseases from a center in the city of Rosario over the past 12 years is presented. The diagnosed cases included the following: Complex Regional Pain Syndrome (CRPS), X-linked Hypophosphatemia (XLH), Paget’s disease, fibrous dysplasia, osteogenesis imperfecta, osteopetrosis, Gorham’s disease, pseudohypoparathyroidism, pseudomiogenetic hemangioendothelioma, Ollier’s disease, calcinosis (CREST), brown tumors due primary hyperparathyroidism, tumor-induced osteomalacia, high bone mass disease due LRP6 mutation, MEN1, extensive heterotopic ossification secondary to COVID, Mazabraud’s syndrome, Gaucher disease, sarcoidosis, uremic tumoral calcinosis, systemic mastocytosis, Rosai-Dorfman disease, congenital central core myopathy, hypoparathyroidism.
Discussion: 80% of rare diseases have an identified genetic origin, affecting one or more genes. Most of these conditions begin in childhood, but many are diagnosed in adulthood, especially when the forms are non-life-threatening. Most do not have specific treatments. Interdisciplinary management is crucial in handling these cases, as is genetic study to advance research and treatment of these conditions.
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Derechos de autor: Actualizaciones en Osteología es la revista oficial de la Asociación Argentina de Osteología y Metabolismo Mineral (AAOMM) que posee los derechos de autor de todo el material publicado en dicha revista.
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