A case of Erdheim-Chester disease initially mistaken for Ormond's disease

Nat Clin Pract Rheumatol. 2008 Jan;4(1):50-5. doi: 10.1038/ncprheum0677.

Abstract

Background: A 54-year-old man presented with fever, abdominal pain, anemia, elevated C-reactive protein level and decreased renal function. Idiopathic retroperitoneal fibrosis (Ormond's disease) had been diagnosed in the past, leading to surgical ureterolysis. Re-evaluation of the CT scans and histological biopsy samples revealed unusual sclerosis of the long bones and diffuse infiltrates of foamy histiocytes in the bone marrow and the retroperitoneum.

Investigations: Physical examination, laboratory tests including hemoglobin concentration, erythrocyte sedimentation rate, C-reactive protein level, beta2-microglobulin level, creatinine level, CT of the chest and abdomen, bone scintigraphy, bone marrow and soft tissue biopsies and immunohistochemistry.

Diagnosis: Erdheim-Chester disease with retroperitoneal fibrosis and bone sclerosis.

Management: Treatment with glucocorticoids failed. The patient's symptoms improved significantly after initiation of interferon-alpha therapy.

Publication types

  • Case Reports

MeSH terms

  • Anemia / etiology
  • Antineoplastic Agents / therapeutic use
  • Diagnosis, Differential
  • Erdheim-Chester Disease / complications
  • Erdheim-Chester Disease / diagnosis*
  • Erdheim-Chester Disease / drug therapy
  • Humans
  • Hydronephrosis / etiology
  • Interferon Type I / therapeutic use
  • Male
  • Middle Aged
  • Recombinant Proteins
  • Retroperitoneal Fibrosis / diagnosis*

Substances

  • Antineoplastic Agents
  • Interferon Type I
  • Recombinant Proteins