The orthopedic aspects of Gaucher disease

Orthopedic problems are an important feature of the adult, chronic or non-neuropathic form of Gaucher disease. Thirty-five South African patients have been investigated and of these 29 had significant skeletal complications. Twenty-one had nonspecific bone pains, 14 had episodes of pseudoosteomyelitis and 2 had acute hematogenous osteomyelitis. Twenty experienced collapse of femoral heads and in 9, prosthetic joint replacement had been successfully undertaken. Four had kyphoscoliosis due to wedging of vertebral bodies and three had pathological fractures of tubular bones. Twenty-eight of the patients were of Askhenazi Jewish stock and the minimum prevalence of the disorder in this group in South Africa is one in 4,300. If skeletal problems and splenomegally coexist in a Jewish patient, the diagnosis of Gaucher disease warrants serious consideration.