Challenges in managing frequent fractures in an adult patient with Osteogenesis Imperfecta; Bruck syndrome Type 1 (FKBP 10 mutation) — ASN Events
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Challenges in managing frequent fractures in an adult patient with Osteogenesis Imperfecta; Bruck syndrome Type 1 (FKBP 10 mutation) (#163)

Thaw Htet 1 , Tamara Milder 1 , Jacqueline Center 1 2 3 , John Eisman 1 2 3 4
  1. Endocrinology department, St Vincent's Hospital, Sydney, NSW, Australia
  2. Division of Bone Biology, Garvan Institute of Medical Research, University of New South Wales, Sydney, New South Wales, Australia
  3. Faculty of Medicine, University of New South Wales, Sydney, NSW
  4. School of Medicine, University of Notre Dame, Sydney, NSW

Osteogenesis Imperfecta (OI) is a group of inherited skeletal disorders with variable severity and phenotypic heterogeneity, usually inherited in autosomal dominant form. Here, we will be presenting an adult OI patient with a rare autosomal recessive form (FKBP10 mutation or Bruck syndrome type I) and the challenges in management.

A 36 years old male with known OI, presented to a metropolitan hospital with two-week history of back pain due to a spontaneous T8 spinal compression fracture. At birth, he had a fracture neck of humerus and femur and was diagnosed with OI type IV at the age of 2. He developed bilateral knee and elbow contractures, bilateral talipes equino varus, protrusion acetabuli and restrictive lung disease secondary to progressive kyphoscoliosis. He has been wheelchair bound most of his life due to bony deformities and contractures.

He was treated with IV pamidronate 1mg/kg/month from the age of 17 to 20 years. Over the past 15 years, he has continued to have spontaneous vertebral crush fractures and rib fractures but no long bone fractures. Despite suffering from chronic back and rib pain, he lives independently and is a university student. Recent genetic testing led to a change of diagnosis to OI type III, Bruck syndrome Type 1 based on a double heterozygous FKBP10 mutation. FKBP10 encodes 65 kDA prolyl cis-trans isomerase/ FKBP65 protein which is important for crosslinking and folding of Type I collagen.

Challenges in management of this patient include maintaining quality of life and optimising pharmacologic therapy. The options include continuing bisphosphonate therapy in the setting of widespread gum recession and poor dentition vs. teriparatide and/or denosumab in the face of limited evidence of benefit in this type of OI. Ongoing challenges include chronic pain management due to frequent fractures, psychosocial support and maintaining functional independence. 

 

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  2. Lindahl K, Langdahl B, Ljunggren O, Kindmark A. Treatment of osteogenesis imperfecta in adults. Eur J Endocrinol. 2014;171(2):R79-90.
  3. Biggin A, Munns CF. Osteogenesis imperfecta: diagnosis and treatment. Curr. 2014;12(3):279-88.