SUN-749 - Camurati-Engelmann Disease, A Rare Cause of Debilitating Bone Pain

Introduction:
Camurati-Engelmann Disorder (CED) is a rare, autosomal dominant bone disorder characterized by hyperostosis of the long bones of the arms, legs and skull. The exact prevalence of CED is unknown, however over 300 cases have been described. CED is typically caused by a gain of function mutation in the transforming growth factor beta 1 (TGFB1) gene which plays a crucial role in bone metabolism. Symptoms typically include proximal muscle weakness, a wide-based gait, and joint contractures. We describe a case of CED managed with losartan and analgesic therapy. We hope to highlight the manifestations of this rare condition and discuss current management strategies.

Case:
A 35-year-old female with a past medical history of Camurati-Engelmann Disease (CED) presented to the endocrinology clinic for management. She was diagnosed at the age of 5 years old after genetic testing after her mother and sister were diagnosed with CED, however, records regarding genetic testing were unavailable. The patient initially started prednisone therapy, however eventually required oxycodone for bone pain and stopped steroids. The patient was pregnant twice in the past and had significant improvements in pain during pregnancy. Losartan therapy, which downregulates TGFB1, was also introduced with some improvement in her pain, however, the dose was limited to 25 mg daily due to hypotension. Physical examination demonstrated the following vital signs: blood pressure 119/69 mmHg, heart rate 96 beats per minute, and temperature 36.4 C. Examination demonstrated decreased range of motion of the upper extremities due to bilateral pain. Imaging of her ankles in the past for pain demonstrated thickened distal tibial periosteum bilaterally consistent with CED. Currently the patient has been referred to physical therapy for pain management and is being considered for prednisone therapy.

Discussion:
CED is a rare bone metabolism disorder characterized by hyperostosis of long bones leading to occasionally debilitating upper and lower extremity pain. Most commonly it is caused by TGFB1 mutations with an autosomal dominant inheritance pattern with unknown rates of penetrance. Steroids, losartan, and physical therapy have all been shown to be beneficial in improving pain and mobility with pain also improving during pregnancy and also potentially with bisphosphonates. Through this case report we hope to describe this rare condition, and the multidisciplinary approach needed to treat affected patients.

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