Report on a case of fibrogenesis imperfecta ossium and a possible new treatment option

B. Bakos, A. Lukáts, P. Lakatos, G. Gyori, A. Tremmel, I. Takács

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Fibrogenesis imperfecta is an extremely rare acquired progressive bone disorder of unknown etiology. In its course, normal bone architecture is replaced at sites by structurally unsound collagen-deficient tissue resulting in a disorganized bone structure and a skeleton that is radically susceptible to deformity and fracture. Herein, we report the case of a patient who had experienced constant bone pain and several spontaneous fractures since 1997. In 10 years' time with the sole exception of his skull, the disease affected the entire skeleton causing a significant decrease in height and progressive disablement. Laboratory findings included elevation of serum alkaline phosphatase and C-terminal telopeptide of type 1 collagen, with normal serum calcium, phosphate, 25-hydroxy-vitamin-D, and parathyroid hormone concentrations. Monoclonal gammopathy was present with no pathological plasma cells in bone marrow. Radiological and histological results were inconclusive suggesting either osteoporosis, osteomalacia, or Paget's disease and later on osteosclerosis. Treatment administered for the abovementioned conditions has proven to be of no effect. The findings eventually raised the possibility of fibrogenesis imperfecta ossium, which was confirmed by polarized light microscopy as well as transmission electron microscopy. The suggested therapy for the disease is melphalan that could not be initiated due to legal restrictions. Steroid monotherapy also reported to be moderately successful in one case resulted in no improvement. Paraproteinemia had been suggested not only to be a characteristic feature but also a possible etiological factor in this condition. In 2012, plasmapheresis was initiated monthly at the beginning, later on biweekly. In response, the patient's symptoms improved dramatically supporting the abovementioned theory.

Original languageEnglish
Pages (from-to)1643-1646
Number of pages4
JournalOsteoporosis International
Volume25
Issue number5
DOIs
Publication statusPublished - 2014

Fingerprint

Bone and Bones
Paraproteinemias
Skeleton
Osteosclerosis
Polarization Microscopy
Osteomalacia
Spontaneous Fractures
Melphalan
Plasmapheresis
Therapeutics
Collagen Type I
Plasma Cells
Parathyroid Hormone
Serum
Transmission Electron Microscopy
Skull
Vitamin D
Osteoporosis
Alkaline Phosphatase
Collagen

Keywords

  • Collagen
  • Fibrogenesis imperfecta
  • Osteomalacia
  • Paget's disease
  • Plasmapheresis

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Medicine(all)

Cite this

Report on a case of fibrogenesis imperfecta ossium and a possible new treatment option. / Bakos, B.; Lukáts, A.; Lakatos, P.; Gyori, G.; Tremmel, A.; Takács, I.

In: Osteoporosis International, Vol. 25, No. 5, 2014, p. 1643-1646.

Research output: Contribution to journalArticle

Bakos, B. ; Lukáts, A. ; Lakatos, P. ; Gyori, G. ; Tremmel, A. ; Takács, I. / Report on a case of fibrogenesis imperfecta ossium and a possible new treatment option. In: Osteoporosis International. 2014 ; Vol. 25, No. 5. pp. 1643-1646.
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