ICCBH2017 Poster Presentations (1) (209 abstracts)
The treatment of Camurati-Engelmann disease with Losartan: a case report
Alex Moylan 1 , Emma L. Wakeling 2 , M. Zulf Mughal 3 , Richard Keen 1 , Matt Thornton 1 , Daniela Peeva 1 & Benjamin Jacobs 1
1Royal National Orthopaedic Hospital, Stanmore, UK; 2Northwick Park Hospital, London, UK; 3Royal Manchester Children’s Hospital, Manchester, UK.
Background: Camurati-Engelmann disease (CED) is a rare bone dysplasia characterised by hyperostosis and sclerosis of the diaphyses of the long bones and skull. It is caused by autosomal dominant gain-of function mutations within TGFB1, which result in increased activity of transforming growth factor β1 (TGF-β1). It typically presents in mid-childhood with bone pain, myopathy and progressive immobility. Evidence for treatment is based on a number of case reports, most of which describe the response to glucocorticoids. Losartan, an angiotensin-II receptor antagonist, is known to reduce expression of TGF-β1 and there are reports of two children with CED who showed significant improvement in pain and mobility in response to this treatment.
Presenting problem: A 10 year old child with a clinical and radiological diagnosis of CED (Figures 1 and 2) was found to have a heterozygous TGFB1 mutation (p.Y104H). He had significant leg pain and difficulty walking.
Clinical management: We commenced losartan treatment at a dose of 0.6 mg/kg daily. Response to treatment was assessed using the 6 minute walk test, Child Health Assessment Questionnaire (CHAQ) and formal assessment of gait, and bone health using biochemical markers of inflammation and bone turnover and radiological appearance including radiographs and densitometry. We monitored for side effects, including specific monitoring for hypotension and electrolyte abnormalities. He reported a significant decrease in pain and improvement in walking, his progress is shown in the table.
Discussion: The early response to treatment in our patient and the lack of side-effects supports the use of losartan as a first line treatment for CED.
Disclosure: The authors declared no competing interests.
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