biologyScience

A new classification of rare, non-skeletal disorders affecting bone

It identifies six groups of rare disorders that may affect osteocyte activity or characteristics of the bone matrix, classified by systemic disease, genetic defect, pathophysiology of bone phenotype and treatment.

Thanks to major advances in understanding and managing rare congenital diseases and syndromes, many patients with these rare disorders now live longer lives. With this progression, it became apparent that many rare, non-skeletal diseases have an impact on bone mass, bone quality and / or bone metabolism, with potential implications for adult quality of life.

The new paper, “Osteoporosis in Patients with Congenital Non-Skeletal Diseases”, was published in Orphant Journal of Rare Diseases The International Osteoporosis Foundation (IOF) Rare Skeletal Diseases Working Group (SRDWG) presents the first taxonomic classification of rare non-skeletal, rare congenital disorders that have an impact on bone physiology on the basis of phenotypes. Diseases are described by systemic disease. A genetic defect; The pathophysiology of the bone phenotype. Treatment, when available.

Classifications are presented in separate tables for these rare disorders as follows:

  • Rare metabolic diseases: lysosomal storage diseases, disorders of sulfur metabolism, and disorders of the tyrosine pathway
  • Rare liver disease: copper pathway disorders (Menkes and Wilson’s disease)
  • Rare respiratory disease: cystic fibrosis
  • Rare blood diseases: mastocytosis, beta-thalassemia, hemophilia, sickle cell disease, myelodysplastic dysplasia, severe congenital neutropenia, histiocytosis
  • A rare neurological disease: Rett syndrome
  • Malformation: Tricho-rhino-phalangeal syndrome, type 1

Professor Maria Luisa Brandi, Chair of the former IOF SRD Working Group and IOF Academy Contract for Rare Skeletal Diseases stated:

“Through this work, we established the first classification for rare systemic diseases that alter bone metabolism and which may be amenable to different therapeutic approaches to maintain bone health. We look forward to updating the classification as new knowledge becomes available and new treatment options become available. “

Professor Nicholas Harvey, Chair of the Committee of Scientific Advisors at the International Osteoporosis Foundation (CSA) and the Academy of Rare Skeletal Diseases of the International Osteoporosis Organization added:

“ This new publication, which documents a new approach to classifying these rare diseases, documents the tremendous value in bringing together global leaders in the field through the Science Program of the International Osteoporosis Foundation, which continues through the IOF Academy of Rare Skeletal Diseases, to create a case- Among the art reports that will inform clinical practices around the world. “

###

Further reading:

Masi, L., Ferrari, S., Javaid, MK et al. Osteoporosis in patients with congenital non-structural disease. Orphanet J Rare Dis 16, 11 (2021).

https: //Resonate.Deer /10.1186 /s13023-020-01611-5

Masi L, Agnusdei D, Bilezikian J, Chappard D, Chapurlat R, Cianferotti L, et al. Classification of rare genetic metabolic bone disorders. Osteoporos Int 2015; 26: 2529-2558

https: //Link.Springer.Com /Article /10.1007 /s00198-015-3188-9

International Osteoporosis Foundation Atlas of Rare Metabolic Bone Disorders

https: //www.Osteoporosis.Corporation /Health professionals /Rare structural disorders

About IOF:

The International Osteoporosis Foundation (IOF) is the world’s largest non-governmental organization dedicated to the prevention, diagnosis and treatment of osteoporosis and related musculoskeletal diseases. Members of Osteoporosis International, including committees of scientific researchers as well as 266 medical and research societies, work together to make fracture prevention and healthy movement a priority for healthcare around the world. https: //www.Osteoporosis.Corporation iofbonehealth

About the Academy of Rare Skeletal Diseases:

To continue the important work of the former IOF Rare Skeletal Diseases Working Group, the International Osteoporosis Foundation launched the Rare Skeletal Diseases Academy in 2020. The Academy is comprised of leading experts in this field whose mission is to advance and disseminate much-needed knowledge in this area. Communicating the importance of diagnosing, managing and supporting rare diseases. Areas of activity will include publications in scientific journals, development of educational programs and training courses, and the provision of practical information resources for patients and healthcare professionals. In addition, the Academy will present awards to recognize and promote research excellence and the work of young scholars in this field. https: //A little.Mine /35 S.

https: //www.Osteoporosis.Corporation /News /New Classification – Non-skeletal disorders – rare – trace – bone – 20210111-1410
http: // dx.Resonate.Deer /10.1186 /s13023-020-01611-5

Related Articles

Leave a Reply

Your email address will not be published. Required fields are marked *

Back to top button