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:
(1) femur
(2) vertebral bodies
(3) humerus
(4) ribs
(5) pelvis
(6) skull
(7) any tubular bone
Joints involved:
(1) hip joint
(2) shoulder joint
(3) sacroiliac joint
Bone Changes and Radiologic Features
Stage
normal
0
diffuse osteoporosis with a coarse trabecular pattern involving tubular bones and vertebrae
1
medullary expansion in long bones or ribs, with loss of normal concavity above the femoral condyles or the "Ehrlenmeyer flask" deformity
2
localized bone destruction in long bones with small bone erosions ("moth eaten")
3
ischemic necrosis with patchy densities and erosions; serpiginous
sclerosis; sequestra; layered periostitis
4
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
5
where:
• The Ehrlenmeyer flask deformity involves an expansion of the metaphysis in long bones with a central lytic focus.
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