Background: Osteogenesis imperfecta (OI) is a group of disorders in which there is a defect in the quantitative and qualitative production of collagen synthesis due to genetic mutations.
Case description: We report a case of a 37-year-old dwarf male with OI who presented with severe anemia and cardiac failure. He was on alendronate sodium 70 mg weekly once for the past 2 years. She was treated with transfusions of packed red blood cells, Lasix (loop diuretic), and iron therapy.
Conclusion: There is no curative treatment for OI, but bisphosphonate therapy improves the quality of life of the patients. Bisphosphonates reduce bone resorption and thereby fractures. Judicial use should be considered in view of adverse side effects.
Glorieux FH. Experience with bisphosphonates in osteogenesis imperfecta. Pediatrics 2007;119(Suppl 2):S163–S165. DOI: 10.1542/peds.2006-2023I
Michałus I, Nowicka Z, Pietras WA, et al. Pamidronate administration may result in anaemia in children with osteogenesis imperfecta. Arch Dis Child 2019;104(9):906–907. DOI: 10.1136/archdischild-2019-317467
Szczepaniak-Kubat A, Kurnatowska O, Jakubowska-Pietkiewicz E, et al. Assessment of quality of life of parents of children with osteogenesis imperfecta. Adv Clin Exp Med 2012;21(1):99–104.
Cremers S, Papapoulos S. Pharmacology of bisphosphonates. Bone 2011;49(1):42–49. DOI: 10.1016/j.bone.2011.01.014
Gertz BJ, Holland SD, Kline WF, et al. Clinical pharmacology of alendronate sodium. Osteoporos Int 1993;3(suppl 3):S13–S16. DOI: 10.1007/BF01623002
Papapoulos SE, Cremers SC. Prolonged bisphosphonate release after treatment in children. N Engl J Med 2007;356(10):1075–1076. DOI: 10.1056/NEJMc062792
Ward LM, Rauch F, Whyte MP, et al. Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. J Clin Endocrinol Metab 2011;96(2):355–364. DOI: 10.1210/jc.2010-0636
Ralston SH, Gaston MS. Management of osteogenesis imperfecta. Front Endocrinol (Lausanne) 2020;10:924. DOI: 10.3389/fendo.2019.00924