The 5q- syndrome and autoimmune phenomena: report of three cases

Leuk Res. 2006 Apr;30(4):507-10. doi: 10.1016/j.leukres.2005.08.025. Epub 2005 Oct 10.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Autoimmune Diseases / genetics*
  • Chromosomes, Human, Pair 5*
  • Humans
  • Karyotyping
  • Male
  • Middle Aged
  • Myelodysplastic Syndromes / genetics*