The 5q- syndrome and autoimmune phenomena: report of three cases.
Myelodysplastic syndrome is a clonal hematopoietic stem cell disorder characterized by ineffective hematopoiesis, peripheral cytopenias and an additional risk to evolve to acute leukemia in up to 30% of the cases. Autoimmune manifestations as vasculitis, pyoderma gangrenosum, hemolytic anemia, immune thrombocytopenia, rheumatoid arthritis as well as positive anti-nuclear factor and rheumatoid factor have been reported in 13-30% of MDS patients. The aim of this report is to present three patients with 5q- syndrome who presented different autoimmune serological and clinical phenomena and review the literature. Patient 1 showed a focal and segmental glomerulosclerosis (FSGE) in the course of a MDS. Renal involvement in MDS as autoimmune phenomenon is rare and few reports have documented different forms of glomerular diseases in adults with MDS. Patients 2 and 3 showed a rheumatoid factor of 1/140 and the direct Coomb's test positive (3+), respectively, but without evidence of clinical autoimmune manifestation. In conclusion, patients with the 5q- syndrome experience a relative benign disease course extending over several years. We believe that careful follow-up of patients with autoimmune manifestations as here reported is important to detect any unexpected outcome.
Pinheiro
Ronald Feitosa
RF
Disciplina de Hematologia e Hemoterapia, Universidade Federal de São Paulo-UNIFESP-EPM, Rua Botucatu 740, 3 andar, Hematologia-CEP: 04023-900, São Paulo-SP, Brazil. ronaldfpinheiro@uol.com.br
Silva
Maria Regina Régis
MR
Chauffaille
Maria de Lourdes L F
Mde L
D000368:Aged; D000369:Aged, 80 and over; D001327:Autoimmune Diseases / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*