Special form of osteoporosis in a 53-year-old man

BMJ Case Rep. 2018 Dec 13;11(1):e226672. doi: 10.1136/bcr-2018-226672.

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.

Keywords: calcium and bone; endocrine system; genetic screening / counselling.

Publication types

  • Case Reports

MeSH terms

  • Bone Density / genetics
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Fractures, Compression / genetics*
  • Humans
  • Lumbar Vertebrae / injuries*
  • Male
  • Middle Aged
  • Mutation, Missense
  • Osteoporosis / complications
  • Osteoporosis / genetics*
  • Osteoporotic Fractures / genetics*
  • Spinal Fractures / genetics*

Substances

  • Collagen Type I
  • Collagen Type I, alpha 1 Chain