Cuando las enfermedades metabólicas se confunden con las inflamatorias

Juan Politei; Consuelo Durand; Andrea Beatriz Schenone

Juan Politei Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN). Buenos Aires, Argentina
Consuelo Durand Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN). Buenos Aires, Argentina
Andrea Beatriz Schenone Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN). Buenos Aires, Argentina

Keywords: Fabry disease, pompe disease, enzyme replacement therapy

Abstract

The presence of distal extremity pain and muscle weakness in patients usually triggers the search for rheumatic diseases without giving thought to non-rheumatologic etiologies. Approaching these symptoms with a broad differential diagnosis including non-rheumatologic entities may lead to earlier diagnosis of metabolic diseases, thus decreasing cost and aiding in earlier initiation of appropriate therapy. Aim: To present 2 cases of patients who, after years of rheumatologic work up for arthralgia and muscle weakness, were found to have inherited metabolic diseases. Rheumatologists and immunologists may be the first to encounter patients with Fabry and Pompe disease. If these disorders are not considered in the differential diagnosis, we will miss the opportunity for early institution of therapy.

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References

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When metabolic diseases are misdiagnosed as inflammatory disorders

Abstract

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