Patients with Gaucher disease Type 1 may develop mild to severe bone disease. The severity of the bone disease can be staged based on the radiologic findings.
Bones often involved:
(2) vertebral bodies
(7) any tubular bone
(1) hip joint
(2) shoulder joint
(3) sacroiliac joint
Bone Changes and Radiologic Features
diffuse osteoporosis with a coarse trabecular pattern involving tubular bones and vertebrae
medullary expansion in long bones or ribs, with loss of normal concavity above the femoral condyles or the "Ehrlenmeyer flask" deformity
localized bone destruction in long bones with small bone erosions ("moth eaten")
ischemic necrosis with patchy densities and erosions; serpiginous
sclerosis; sequestra; layered periostitis
diffuse destruction of bone; femoral and humeral heads may show epiphyseal collapse and osteoarthrosis; mixed lytic and sclerotic foci; larger foci with a "soap bubble" pattern
• The Ehrlenmeyer flask deformity involves an expansion of the metaphysis in long bones with a central lytic focus.
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