Lysosomal storage diseases: A brief summary

Abstract

A considerable number of lysosomal storage diseases (LSD), which can occur at any age in life, should be included in the differential diagnosis of histiocytic diseases. To what extent can pathologists contribute to the diagnostics of LSD? In material collected from LSD, morphological storage phenomena in some disease forms, particularly in histiocytic cells from bone marrow smears and some tissues are highlighted, presented and described. Due to the multitude and heterogeneity of LSDs this list is by no means exhaustive. In Gaucher disease, the forms of Niemann-Pick disease, cholesteryl ester storage disease (CESD), GM1 gangliosidosis and other LSDs, the histiocytic storage cells seen, for example, in bone marrow smears can be finely and ultrastructurally differentiated. Thereby, not only the presence of an LSD in general but also some individual types of LSD can be identified, even though preliminarily. To confirm the diagnosis the genetic and sometimes biochemical analysis of blood samples or fibroblast cultures from patients is usually required. The pathologist may be the first to suspect LSD and this applies to LSDs that show storage histiocytes or one of a number of other LSDs in which only minor or absent storage is seen in histiocytes but marked storage phenomena are found in other cell systems. Some of the numerous, extremely heterogeneous LSDs may, however, be overlooked as detailed knowledge of the generally rare LSDs is the domain of LSD specialists. Clinicians, pathologists, geneticists and biochemists should cooperate in solving the diagnostic problems.