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CASE REPORT
Special form of osteoporosis in a 53-year-old man
  1. Simon Lampart1,
  2. Silvia Azzarello-Burri2,
  3. Christoph Henzen1,3 and
  4. Stefan Fischli3
  1. 1 Department of Internal Medicine, Luzerner Kantonsspital, Luzern, Switzerland
  2. 2 Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland
  3. 3 Division of Endocrinology and Diabetes, Luzerner Kantonsspital, Luzern, Switzerland
  1. Correspondence to Dr Stefan Fischli, stefan.fischli{at}luks.ch

Abstract

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.

  • calcium and bone
  • genetic screening / counselling
  • endocrine system

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Footnotes

  • Contributors SL wrote the first draft of the article. SF reviewed the article, making substantial alterations in order to completely present the case and to fully show the scientific intent of the presentation. SA-B reviewed the section on genetical information and provided further details in this respect. CH suggested that we present the case. The patient reviewed the article several times after providing his consent.

  • Funding This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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