Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know.
Curr Osteoporos Rep
; 22(3): 308-317, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38600318
ABSTRACT
PURPOSE OF REVIEW The purpose of this review is to outline the principles of clinical genetic testing and to provide practical guidance to clinicians in navigating genetic testing for patients with suspected monogenic forms of osteoporosis. RECENT FINDINGS:
Heritability assessments and genome-wide association studies have clearly shown the significant contributions of genetic variations to the pathogenesis of osteoporosis. Currently, over 50 monogenic disorders that present primarily with low bone mass and increased risk of fractures have been described. The widespread availability of clinical genetic testing offers a valuable opportunity to correctly diagnose individuals with monogenic forms of osteoporosis, thus instituting appropriate surveillance and treatment. Clinical genetic testing may identify the appropriate diagnosis in a subset of patients with low bone mass, multiple or unusual fractures, and severe or early-onset osteoporosis, and thus clinicians should be aware of how to incorporate such testing into their clinical practices.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Osteoporose
/
Densidade Óssea
/
Testes Genéticos
Limite:
Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article