Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1
Arch. endocrinol. metab. (Online)
;
65(4): 500-504, July-Aug. 2021. graf
Artículo
en Inglés
| LILACS
| ID: biblio-1339102
ABSTRACT
SUMMARY The occurrence of fractures in young individuals is frequently overlooked by physicians, especially when associated with exercise or trauma. Nevertheless, multiple fractures should always be investigated since underlying conditions can predispose to such events. We describe here the case of a young, healthy woman who sustained multiple fractures in the lower limbs, which were initially considered to be "stress fractures". Further investigation, including a panel of genes associated with osteogenesis imperfecta, revealed that the patient is a heterozygous carrier of a SERPINF1 variant. According to criteria recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, this variant is classified as likely benign (PM2, PP3, PP4, BP1, and BP4). The patient's mother and brother were also asymptomatic carriers of the variant and had sustained previous minor fractures. The patient had normal biochemical profile and bone density. This condition has been rarely described and is not associated with low bone mineral density or altered bone turnover markers. This case highlights the importance of investigating multiple fractures in young patients who are otherwise healthy since these may be a warning sign of rare genetic conditions associated with fragility fractures.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Osteogénesis Imperfecta
/
Fracturas por Estrés
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Arch. endocrinol. metab. (Online)
Asunto de la revista:
Endocrinologia
/
Metabolismo
Año:
2021
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade de São Paulo/BR
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