Poster Presentation ESA-SRB-ANZBMS 2024 in conjunction with ENSA

Ongoing Minimal Trauma Fracture in a Non-Transfused Patient with ß-Thalassemia Major Despite 20 Years of Osteoporosis Therapies (#613)

Chrislyn Ng 1 , Navira Samad 1 2 3 , Anne Trinh 1 2 3 , Phillip Wong 1 2 3 , Frances Milat 1 2 3
  1. Monash University, School of Clinical Sciences, Clayton, VIC, Australia
  2. Hudson Institute of Medical Research, Melbourne, Victoria, Australia
  3. Department of Endocrinology, Monash Health, Melbourne, Victoria, Australia

Thalassemia bone disease is a common and severe complication of ß-thalassaemia major and occurs secondary to marrow expansion, hormonal deficiency including hypogonadism, iron toxicity and increase in bone turnover. This results in reduced bone mineral density (BMD) and increased susceptibility to minimal trauma fracture (MTF). Optimal transfusions/iron chelation therapy, management of hormone deficiencies and antiresorptive therapies are the cornerstone of management. There is limited data examining bone anabolic therapies.

We report the case of a 58-year-old male (Jehovah’s Witness) with ß-thalassaemia major, osteoporosis and multiple fractures. In addition to bone disease, he has widespread extramedullary haematopoiesis (declined red blood cell transfusion) complicated by spinal cord compression requiring radiotherapy. He receives transdermal testosterone for treatment of his hypogonadism.

Despite osteoporosis therapies over 20 years, this patient continued to suffer MTF and declining BMD (Fig 1). He initially received 13 years of bisphosphonates, with relative BMD stability. He was switched to strontium ranelate, where there was a significant bone loss (-6.9%) at the femoral neck (FN T-score: -3.1). He commenced 6-monthly denosumab with initial BMD gains at the LS but sustained MTF rib and left humeral fracture. Despite a switch to 3-monthly denosumab, he had ongoing high bone turnover markers (C-telopeptide: 470ng/L; normal range 150-800ng/L) and had further supracondylar femoral and humeral fractures following a fall. Given multiple fractures and ongoing BMD decline, monthly romosozumab was commenced in 2023. He tolerated romosozumab well, with an increase in procollagen type 1 propeptide (P1NP from 34μg/L to 130μg/L at 3-4 months (normal range 15-70 µg/L)). He will have repeat DXA shortly.

This case highlights the complex management of osteoporosis in a non-transfused man with ß-thalassemia major. Despite various osteoporosis treatments, ongoing fracture necessitating bone anabolic treatments. This is the first report of romosozumab in a patient with ß-thalassemia major.66b4ad0439c43-Figure1_ESA.png66b4ad0439c43-Figure2_ESA.png