Erdheim-Chester syndrome

Synonyms

2

Overview

Erdheim-Chester syndrome: A very rare lipid storage disorder involving lipid deposits in various organs and hardening of the ends of long bones which affects the growth of the bone. The severity of the condition is variable

Symptoms

The list of signs and symptoms mentioned in various sources for Erdheim-Chester syndrome includes the 17 symptoms listed below: 

  • Fever
  • Weight loss 
  • Excessive urination 
  • Bone pain 
  • Chest pain 
  • Cough 
  • Sinus discharge 
  • Cardiac failure 
  • Pulmonary disease 
  • Kidney disease
  • Enlarged liver 
  • Enlarged Spleen 
  • Eyelid xanthoma 
  • Lipogranulomatosis 
  • Bone lesions 
  • Lesions of visceral organs 
  • Diabetes insipidus

Causes

The cause of Erdheim-Chester syndrome is unknown. More it's non genetic and not asociated to an infectious agent. 

Diagnosis

Radiologic osteosclerosis and histology are the main diagnostic features. Diagnosis can often be difficult because of the rareness of ECD as well as the need to differentiate it from LCH. A diagnosis from neurological imaging may not be definitive. The presence of symmetrical cerebellar and pontine signal changes on T2-weighted images seem to be typical of ECD, however, multiple sclerosis and metabolic diseases must also be considered in the differential diagnosis. ECD is not a common cause of exophthalmos but can be diagnosed by biopsy. However, like all biopsies, this may be inconclusive. Video-assisted thoracoscopic surgery may be used for diagnostic confirmation and also for therapeutic relief of recurrent pericardial fluid Drainage.

Prognosis

Erdheim–Chester syndrome is associated with high mortality rates. In 2005, the survival rate was below 50% at three years from diagnosis.

Treatment

Current treatment options include:

  • Surgical debulking
  • High-dose Corticosteroid therapy
  • Cyclosporin
  • Interferon-α
  • Chemotherapy
  • vemurafenib It would appear that approximately half these patients harbor point mutations of the BRAF gene at codon 600 substituting the amino acid glutamine for valine. Vemurafenib an oral FDA approved targeted agent to the BRAF protein for melanoma shows dramatic activity in patients Erdheim–Chester disease whose tumor contains the same mutation.
  • Radiation therapy

All current treatments have had varying degrees of success.

The vinca alkaloids and anthracyclines have been used most commonly in ECD Treatment.