Gaucher disease with foamy transformed macrophages and erythrophagocytic activity.
Foamy transformation of macrophages is typically seen in lysosomal storage disorders in patients with Niemann-Pick disease, but foamy Gaucher cells (GC) were previously reported only once, in the autopsy report. Although the majority of stored glucocerebroside in GC is of erythrocyte origin, apparent erythrophagocytosis by GC in bone marrow is an unusual finding. Here, we describe the case of an adult non-Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination. Approximately 15% of his GC showed a notable erythrophagocytic activity or unusual appearance of foamy transformed macrophages with a great number of vacuoles and erythrocyte rests in the cytoplasm. This report highlights the fact that morphological examination of cells and tissue specimens is very helpful in the diagnosis of a storage disorder but that confirmatory testing for specific diseases should always follow. Moreover, it is now clear that Gaucher disease should be a part of the differential diagnosis of foamy transformed macrophages.
Hematology Center Karolinska, M54, Karolinska University Hospital Huddinge, Stockholm, Sweden. maciej.machaczka@ki.se
Maciej
M
Machaczka
Monika
M
Klimkowska
Sofie
S
Regenthal
Hans
H
Hägglund
D000369:Aged, 80 and over; D004912:Erythrocytes / Q000378:metabolism* / Q000473:pathology; D005487:Foam Cells / Q000378:metabolism / Q000473:pathology* / Q000502:physiology; D005776:Gaucher Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005962:Glucosylceramidase / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008264:Macrophages / Q000378:metabolism / Q000473:pathology* / Q000502:physiology; D008297:Male; D010587:Phagocytosis / Q000235:genetics / Q000502:physiology*
D005962:Glucosylceramidase