Systemic AL amyloidosis in Gaucher disease. A case report and review of the literature
Authors: Kaloterakis, A.1; Filiotou, A.1; Koskinas, J.1; Raptis, I.1; Zouboulis, C.1; Michelakakis, H.2; Hadziyannis, S.2
Source: Journal of Internal Medicine, Volume 246, Number 6, December 1999 , pp. 587-590(4)
Publisher: Blackwell Publishing
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Abstract:
. 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.Keywords: amyloidosis; Gaucher disease
Document Type: Research article
DOI: 10.1046/j.1365-2796.1999.00607.x
Affiliations: 1: Academic Department of Internal Medicine and Department of Pathology, Hippokration Hospital, and 2: Department of Enzymology and Cellular Function, `Agia Sofia' Children's Hospital, Athens, Greece
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