RT Journal Article
SR Electronic
T1 Special form of osteoporosis in a 53-year-old man
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e226672
DO 10.1136/bcr-2018-226672
VO 11
IS 1
A1 Simon Lampart
A1 Silvia Azzarello-Burri
A1 Christoph Henzen
A1 Stefan Fischli
YR 2018
UL http://casereports.bmj.com/content/11/1/e226672.abstract
AB 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.