Total Knee Arthroplasty in a Patient with Erdheim-Chester Disease with Massive Joint Destruction

Abstract

Erdheim-Chester disease was named after William Chester, who described the disease in 1930, and the Viennese pathologist Jakob Erdheim. Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis that causes a systemic disease with involvement of the tubular long bones, sparing the axial skeleton, as well as the hands and feet1. The prognosis depends in large part on the extent and distribution of extraosseous manifestations, which most commonly includes diabetes insipidus; these manifestations can also include involvement of the retroperitoneum, skin, lung, and heart and include painless bilateral exophthalmus in >50% of cases2-4. Together with bone pain that arises from bone destruction affecting nociceptors within periosteum and bone marrow, mainly of the lower limbs, these clinical symptoms lead to the diagnosis of Erdheim-Chester disease. The diagnosis is usually based on typical radiographic findings, with symmetric bilateral osteosclerosis involving metaphyseal and diaphyseal regions of the long bones with sparing of the epiphyses. Bone scintigraphy reveals increased tracer uptake in Erdheim-Chester disease lesions, while magnetic resonance imaging shows replacement of the normal fatty bone marrow as well as periostitis2-6. Our report highlights a case of severe bilateral knee joint destruction and varus deformity in a fifty-eight-year-old man with Erdheim-Chester disease and describes the clinical details, technical aspects of surgery, and short-term outcome one year after surgery. To our knowledge, this is the first report of a joint arthroplasty (specifically, bilateral total knee replacement) in a patient with Erdheim-Chester disease. The patient was informed that data concerning the case would be submitted for publication, and he consented. This fifty-eight-year-old male winegrower with a body-mass index of 39.5 kg/m2 and a five-year history of Erdheim-Chester disease developed progressive motion-dependent pain and varus deformity in both knees two years prior to presentation. There was no …