Open AccessSpecial form of osteoporosis in a 53-year-old man
Author(s) -
Simon Lampart,
Silvia Azzarello-Burri,
Christoph Henzen,
Stefan Fischli
Publication year - 2018
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2018-226672
Subject(s) - medicine , teriparatide , osteogenesis imperfecta , osteoporosis , missense mutation , differential diagnosis , pediatrics , bisphosphonate , surgery , bone mineral , pathology , mutation , biochemistry , chemistry , gene
Male osteoporosis often remains unrecognised. Osteoporotic fractures occur approximately 10 years later in men than in women due to higher peak bone mass. However, 30% of all hip fractures occur in men. Risk factors of osteoporotic fractures can be grouped into primary and secondary causes. We present the case of a 53-year-old man, who suffered a compression fracture of a lumbar vertebra after a generalised seizure and an atraumatic rib fracture 5 months later. We could exclude secondary causes of bone mineral loss such as primary hyperparathyroidism, glucocorticoid use and hypogonadism. However, a heterozygous missense mutation of the COL1A1 gene in exon 48 in further search of a secondary cause was found. Therapy was changed from bisphosphonate treatment to teriparatide. Considering the lack of other osteogenesis imperfecta (OI) symptoms and signs, the patient's illness can be classified as mild. OI should be considered as differential diagnosis in unexplained cases with osteoporosis.