Patients with β-thalassaemia major have improved life expectancy and present unique challenges in medical management. The Monash Health service is the state referral centre for thalassaemia with experience spanning 30 years (1). We present the clinical course of a 49 year old man with β-thalassaemia major known to our health service since 1984, with multiple complications including hypogonadotrophic hypogonadism, severe osteoporosis, extramedullary erythropoiesis, mild cardiomyopathy and retinal pseudoxanthoma elasticum.
Having declined blood transfusions for over 20 years (religious beliefs), there has been significant impact on the progression of bone disease (2). From age 31, he had sustained multiple fractures despite regular im testosterone replacement and bisphosphonate therapy from 1997-2011 (3) . Extramedullary erythropoiesis resulted in spinal cord compression in 1999 in the setting of im testosterone, but also again in 2007. On both occasions he received radiotherapy and hydroxyurea. Testosterone therapy was considered essential given the evolving severe osteoporosis. Upon recovery in 2007 he was changed to transdermal testosterone formulations to avoid large fluctuations in serum testosterone (4), given concern these may lead to intermittent marrow expansion.
In the face of progressive BMD decline and additional vertebral fractures, ongoing active treatment of osteoporosis was desired, but options limited. Given previous treatment with radiotherapy, teriparatide was contraindicated. With stable cardiovascular status and no history of thrombosis, strontium ranelate was commenced October 2013 with full disclosure to the patient of potential side effects.
Our case highlights the morbidity associated with severe osteoporosis in β-thalassaemia, as well as the unique challenges of optimising bone health in the non-transfused, hypogonadal patient. Furthermore, we report the correlation between the testosterone preparation pharmacokinetics and the serious complication of bone marrow expansion with spinal cord compression in thalassemia. Considered selection of testosterone formulation according to clinical picture and the patients’ adequacy of transfusion is advisable.