Endocrine Abstracts

A 30 year old woman presented with two year history of right lower leg pain. The pain was constant, worse in cold weather, not worsened by weight bearing and occasionally woke her from sleep. On examination she was tender on palpation of mid distal right tibia. X ray showed sclerotic portions of right tibia and fibula. MR lower right leg demonstrated extensive area of intramedullary bone marrow oedema in the distal half of the right tibia with associated cortical thickening and periosteal reaction. NM Bone scan had increased uptake in midshaft of the right tibia, distal shafts of both femora and ulnar shafts. MR forearms and femurs revealed no obvious bone expansion with predominant inwards growth, and in the left forearm almost complete obliteration of the fat in the medullary bone. Adjusted calcium, Alkaline phosphatase, phosphate and vitamin D were normal. Genetics confirmed diagnosis of Camurati Engelmann disease, a rare sclerosing bone autosomal dominant dysplasia due to a mutation of the Transforming growth factor β-1(TGFβ1) gene. Affected individuals present with bone pain commonly of the legs, muscle weakness and easy fatigability between 20 and 50 years old. Clinical examination usually reveals bony tenderness on palpation. The patient may often be slender or marfanoid. Radiologically the most common finding is cortical thickening of the diaphysis of the long bones. Hyperostosis may be bilateral or asymmetric. The skull is also commonly involved with sclerosis of the skull base. Bone mineral density is usually increased therefore bone scintigraphy has been suggested to be helpful to aid in monitoring. Treatment strategies such as losartan, thought to downregulate TGFβ1 signalling, and steroid use have been suggested in the literature to reduce pain. The patient is currently being trialled on losartan therapy. Due to the rarity of this disease the exact protocol for follow up is unclear.