Rheumatic manifestations of inherited diseases.
In this paper the rheumatic features of a selection of inherited diseases are reviewed. Further evidence has been reported strengthening the association between hypercholesterolemia and Achilles tendinous xanthomatosis, although the clinical manifestations of hyperlipidemic arthropathy remain poorly understood. Osteonecrosis of the femoral head is demonstrated to have a good functional prognosis in children and adolescents with Gaucher's disease. Magnetic resonance imaging of the liver may prove to be useful in monitoring enzyme replacement in Gaucher's disease because it correlates with the presence of avascular necrosis. A case of cervical myelopathy in Hunter's disease is also presented.
Sholter
D
D
Rheumatic Disease Unit, University of Alberta, Edmonton, Canada.
Jones
N
N
D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D012216:Rheumatic Diseases / Q000150:complications*