Background and aim: The lysosomal storage diseases are a group of monogenic diseases with multisystemic impairment and chronic progression induced by the deficiency of lysosomal acid hydrolases involved in the breakdown of various macromolecules. The accumulation occurs in the macrophages of the reticule-endothelial system and causes enlargement and functional impairment. The mainly involved organs are the brain, liver, spleen, bones, joints, airways, lungs, and heart. The aim of this study was to evaluate early symptoms, signs and the delay in the diagnosis of different lysosomal diseases.
Methods: The medical documentation of 188 patients with lysosomal storage disorders, aged 1-70 years, were analyzed. All these patients were specifically diagnosed, by enzyme and molecular assay.
Results: The age of clinical signs onset varies in different type of lysosomal diseases, from the first months of life or early childhood in severe form, to adulthood in attenuated forms. The delay between the clinical signs onset and specific diagnosis ranged from 0.5 months to 57.91 years.
Conclusions: The lysosomal storage diseases are rare diseases with childhood onset, but these early signs and symptoms are not recognized and are often taken into account when the vital organs damage becomes manifest.
Keywords: early diagnosis; lysosomal disease.