Bone symptoms can be an early manifestation of gaucher disease implications for diagnosis

Abstract Gaucher disease (GD) is caused by mutations in the gene GBA1, which encodes for the synthesis of the enzyme lysosomal glucocerebrosidase (GCase). Lack or deficiency of GCase activity causes accumulation of glucosylceramide in the lysosomes of the monocyte-macrophage system in the bone marrow, spleen, and liver, and less frequently in the lungs and the central nervous system; this accumulation results in cell damage and organ dysfunction. Currently available diagnostic algorithms are based on the well-recognized hematological manifestations (cytopenia and splenomegaly), which are the manifestations most commonly associated with GD. However, 25 to 32% of patients have been found to present with bone signs and/or symptoms as the only or main presenting sign of the disease. A number of physicians may be unaware of this clinical presentation of GD, and may therefore delay in establishing diagnosis and initiating treatment, when necessary. We developed an educational program for early detection and diagnosis of GD, which includes a diagnostic algorithm based on GD-related bone manifestations. We herein report the case of a girl with bone symptoms as the only first manifestation of GD that were mistaken for stress fracture and osteomyelitis, and who was seen by 5 different specialists over a 4-year period before she was accurately diagnosed with GD. The case presented here shows the usefulness of the educational program for early detection and diagnosis of GD based on bone symptoms.