Manifestaciones osteoarticulares de las enfermedades por depósito lisosómico

Patients with mucopolysaccharidosis are characterized by coarse facial features, visceromegaly, dysostosis multiplex, joint stiffness and mental retardation. Patients with Gaucher's disease show hepatosplenomegaly, anemia, thrombopenia, fatigue and bone remodeling failure with osteonecrosis and fractures. Early symptoms in Fabry disease can include acroparesthesias, hypohidrosis and acute episodes of pain. Patients can also develop angiokeratomas, chronic kidney disease, cardiac disease and cerebrovascular events. Rheumatologists should bear in mind that the presence of joint contractures, carpal tunnel syndrome in children, dysostosis multiplex, outbreaks of severe bone pain, radiological bone remodeling with fractures and osteonecrosis, anemia and thrombopenia, together with hepatosplenomegaly or progressive neurological impairment can be manifestations of a lysosomal storage disorder. Early diagnosis will allow more effective treatment in many of these patients.