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Systemic AL amyloidosis in Gaucher disease. A case report and review of the literature
Author(s) -
Kaloterakis A.,
Filiotou A.,
Koskinas J.,
Raptis I.,
Zouboulis C.,
Michelakakis H.,
Hadziyannis S.
Publication year - 1999
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1046/j.1365-2796.1999.00607.x
Subject(s) - medicine , amyloidosis , systemic disease , disease , gaucher's disease , al amyloidosis , pathology , dermatology , immunology , antibody , immunoglobulin light chain
. Kaloterakis A, Filiotou A, Koskinas J, Raptis I, Zouboulis C, Michelakakis H, Hadziyannis S (Hippokration Hospital, and ‘Agia Sofia’ Children’s Hospital, Athens, Greece). Systemic AL amyloidosis in Gaucher disease. A case report and review of the literature (Case Report). J Intern Med 1999; 246 : 587–590. Chronic Gaucher disease [GD] in association with systemic AL amyloidosis is extremely rare. We describe a 46‐year‐old Greek male with chronic GD confirmed by low glucocerebroside activity in fibroblasts and N370S/L444P mutations at the cerebrosidase gene, who also had systemic AL amyloidosis diagnosed by bone marrow diffuse plasmacytosis, serum monoclonal IgA‐λ, severe total proteinuria with monoclonal IgA‐λ, Bence‐Jones‐λ and amyloid deposits in bone marrow, liver, spleen and kidney biopsy specimens. Treatment with melphalan and prednizolon has dramatically decreased both levels of serum M‐IgA and proteinuria and also improved the clinical symptoms of amyloidosis. He died from restrictive cardiac disease 30 months after the diagnosis of amyloidosis. Previously reported cases of GD in association with AL amyloidosis are reviewed.