A 49-Year-Old Man With Pain at the Site of a Previous Fracture

Maria Romanova, MD


January 14, 2016

On initial presentation, exclusion of other diseases that result in a similar "bright bone" appearance on radiography is important. The causes of diffuse osteosclerosis include hypervitaminosis D, hypoparathyroidism, myelofibrosis, Paget disease, lead toxicity, diffuse skeletal metastasis of breast or prostate cancer, pseudohypoparathyroidism, fluoride toxicity, beryllium toxicity, sickle cell disease, and leukemia.

A case report has also described abnormal bone modeling and increased bone density, with histologic features of drug-induced osteopetrosis, in a 12-year-old boy treated with bisphosphonates.[3] When given for an extended period, agents that inhibit the recruitment and function of osteoclasts may cause a clinical picture similar to that of heritable osteopetrosis.[4]

Once other causes of increased bone density are excluded, patients with osteopetrosis do not require additional testing. Benign osteopetrosis requires no treatment except in patients who present with complications.

Infantile osteopetrosis warrants treatment because of the adverse outcomes associated with the disease. Vitamin D (calcitriol) appears to help by stimulating dormant osteoclasts, thereby stimulating bone resorption. Treatment with gamma-interferon has produced long-term benefits by improving leukocyte function and decreasing the incidence of new infections. Combination therapy with calcitriol often results in a decrease in trabecular bone volume and an increase in bone marrow volume. This effect causes increases in hemoglobin, platelet counts, and survival rates. Erythropoietin can be used to correct anemia.

Corticosteroids have been used to stimulate bone resorption and treat anemia because of their effect in reducing the destruction of erythrocytes in the reticuloendothelial system. Internal and external fixations have been used for the treatment of fractures, with excellent results.[2,5] Despite increased susceptibility to fractures, bone healing appears to proceed normally, although impaired osteoclast functioning eventually leads to osteopetrotic bone. Healthcare providers caring for adult patients with marble bone disease (osteoporosis) should also be aware of potential bone fragility and an increased propensity to develop osteomyelitis.

The patient in this case underwent an extensive evaluation for the noted changes, including several laboratory investigations that were within normal limits, to rule out other etiologies. Tests in the evaluation included parathyroid hormone, calcium, 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, serum fluoride, total protein, and prostate-specific antigen levels. A bone scan was performed and was negative for skeletal metastases. At this presentation, the patient unfortunately refused a repeat surgical intervention, and he remained wheelchair-bound 4 months later. Follow-up radiographs (not pictured) showed interval healing of the fracture, without complications.


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