H. Harder et al., Coincidence of Gaucher's disease due to a 1226G/1448C mutation and of an immunoglobulin G lambda multiple myeloma with Bence-Jones proteinuria, ANN HEMATOL, 79(11), 2000, pp. 640-643
We report about a 58-year-old female with coexisting type-I Gaucher's disea
se (GD) and multiple myeloma (MM). The diagnosis of GD was made in early ch
ildhood by means of bone marrow biopsy and was recently confirmed by analys
is of the patient's genomic DNA for the underlying glucocerebrosidase mutat
ions and the identification of the 1226G/1448C genotype. At the age of 24 y
ears, the patient developed massive splenomegaly. Therefore, a splenectomy
was performed. No further therapy was necessary for the next 34 years until
1999 when progressive anemia and thrombocytopenia occurred. Additional lab
oratory analysis revealed high serum protein and immunoglobulin (Ig) G leve
ls and evidence of monoclonal gammopathy and lambda light-chain proteinuria
, indicating plasma cell dyscrasia. This diagnosis was confirmed by the det
ection of osteolytic lesions in skeletal X-rays and a bone marrow biopsy sh
owing an extensive infiltration with Gaucher cells and an increase of plasm
a cells, which ex-pressed lambda light chains. When examined by means of el
ectron microscopy, typical Gaucher cells, i.e., histiocytes containing tubu
lar-structured cytoplasmatic material and spots of plasma cells with an inc
rease of the endoplasmic reticulum, were found. GD associated with acquired
Mh I has been described 13 times in the Literature from 1968 to 1997. Only
three of the patients were suffering from IgG myeloma. This distribution o
f the monoclonal component is in contrast to that of patients suffering fro
m MM alone.